and Managing - Scleroderma

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Understanding and Managing Scleroderma Maureen D. Mayes, M.D., M.P.H.

Transcript of and Managing - Scleroderma

UnderstandingandManaging

Scleroderma

Maureen D. Mayes, M.D., M.P.H.

A publication of Scleroderma Foundation

300 Rosewood Drive, Suite 105 Danvers, MA 01923

Understanding

andManaging

Scleroderma

Maureen D. Mayes, M.D., M.P.H.A publication of

Scleroderma Foundation

300 Rosewood Drive, Suite 105

Danvers, MA 01923

800-722-HOPE (4673) www.scleroderma.org

www.facebook.com/sclerodermaUS

www.twitter.com/scleroderma

Understanding and Managing SclerodermaThis booklet is intended to help people with scleroderma, their families and others interested in learning more about the disease to better understand what scleroderma is, what effects it may have, and what those with scleroderma can do to help themselves and their physicians manage the disease. It answers some of the most frequently asked questions about scleroderma.

DisclaimerThe Scleroderma Foundation does not provide medical advice nor does it endorse any drug or treatment mentioned herein.

The material contained in this booklet is presented for general information only. It is not intended to provide medical advice, to answer questions specific to the condition or problems of particular individuals, nor in any way to substitute for the professional advice and care of qualified physicians. Mention of particular drugs and/or treatments is for information purposes only and does not constitute an endorsement of said drugs and/or treatments.

Thanks!The Scleroderma Foundation expresses its deep appreciation to the many physicians whose efforts have led to this booklet.

Special thanks are owed to Maureen D. Mayes, M.D., M.P.H., of the University of Texas McGovern Medical School, Houston.

Maureen D. Mayes, M.D., M.P.H.

My notes________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________

Funding for this booklet was provided by an educational grant from Actelion Pharmaceuticals U.S., Inc.

Funding for this booklet was provided by an educational grant from Actelion Pharmaceuticals U.S., Inc.

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ContentsWhat is scleroderma? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3

Whatsclerodermaisnot . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3

Howseriousisscleroderma? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3

Whodevelopsscleroderma,andwhen? . . . . . . . . . . . . . . . . . . . . . . . . . 4

Whatcausesscleroderma? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4

Aretheredifferentformsofscleroderma? . . . . . . . . . . . . . . . . . . . . . . . 5

Localizedscleroderma . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5

Systemicscleroderma(systemicsclerosis) . . . . . . . . . . . . . . . . . . . . . . 6

Howissclerodermadiagnosed? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7

What are the symptoms of scleroderma, and how are they treated? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8

RaynaudPhenomenon . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8

Swellingorpuffinessofthehands . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10

Painandstiffnessofthejoints . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10

Skincomplications . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10

Skinthickening . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10

Skinulcerations . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11

Calcinosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11

Telangiectasia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11

Dryskin . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11

Itchyskin . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 12

Otherskinsymptoms . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 12

Sclerodactylyandjointcontractures . . . . . . . . . . . . . . . . . . . . . . . . . . . 12

Digestivesystemandgastrointestinaltractproblems . . . . . . . . . . . . 12

Esophagealdysfunction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 13

Swallowingdifficulties . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 13

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Diarrhea . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 14

Constipation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 14

SjögrenSyndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 14

Oral,facial,anddentalproblems . . . . . . . . . . . . . . . . . . . . . . . . . . 15

Kidneyinvolvement . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15

Lunginvolvement . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 16

Heartinvolvement . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17

Non-specificsymptoms . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17

Managing scleroderma . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17

Thecourseofscleroderma . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17

Beingalerttosymptoms . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 18

Developinganindividualtreatmentprogram . . . . . . . . . . . . . . . . . . . . 18

Physicaltherapyandexercise . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19

Protectingthejoints . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19

Takingmedications . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19

Common-sensemeasures . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 20

Theemotionalaspectsofscleroderma . . . . . . . . . . . . . . . . . . . . . . . . 20

Buildingahealthandsupportnetwork . . . . . . . . . . . . . . . . . . . . . . . . 21

Progress through research . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 22

The Scleroderma Foundation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 23

Glossary . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 24

Additional resources . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 30

What is scleroderma?Sclerodermaisachronicconnectivetissuediseasegenerallyclassifiedasoneoftheautoimmunerheumaticdiseases .Thesystemicform(SScforsystemicsclerosis)isdifferentfromthelocalizedform(morphea)andthisdistinctionwillbediscussedfurtherinthisbrochure .Toavoidconfusionsystemicsclerodermawillbereferredtoas“SSc”andlocalizedsclerodermawillbecalled“morphea .”Itisbelievedthatthesearetwoseparateconditionsthathavelittleincommon .

Theword“scleroderma”comesfromtheGreekword“sclero”meaninghard,andtheLatinword“derma”meaningskin .Hardeningoftheskinisoneoftheearliestandmostvisiblemanifestationsofthedisease .PreviouslySSchadbeencalled“progressivesystemicsclerosis,”buttheuseofthattermhasbeendiscouragedsinceithasbeenfoundthatSScisnotnecessarilyprogressive .Thediseasemaytakeseveralformswhichwillbeexplainedlater .Thereisalsomuchvariabilityamongpatients .

Sclerodermaisadiseasewhosesymptomsmaybevisible,asisthecasewhentheskinisaffected,orthesymptomsmaybeinvisible,aswheninternalorgansareaffected .

What scleroderma is notSclerodermaisnotcontagious,itisnotinfectious,itisnotcancerousormalignant,anditisusuallynothereditary .

How serious is scleroderma?Anychronicdiseasecanbeserious .Thesymptomsofsclerodermavarygreatlyfromindividualtoindividual .Morpheaisneverlife-threatening,whereasSSccanrangefromverymildtoveryserious .Theseriousnesswilldependonwhatpartsofthebodyareaffectedandtheextenttowhichtheyareaffected .AnearlycaseofSSccanbecomemoreseriousifnotproperlytreated .Promptandproperdiagnosisandtreatmentbyqualifiedphysiciansmayminimizethesymptomsofsclerodermaandlessenthechanceforirreversibledamage .

The symptoms of scleroderma vary greatly from individual to individual.

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Who develops scleroderma, and when?Itisestimatedthatthereareapproximately300,000personswithsclerodermaintheUnitedStates,including80,000to100,000withthesystemicform(SSc)andtherestwiththelocalizedform(morphea) .Internationalprevalencevariesfromcountrytocountryandithasbeenreportedworldwide .

Statistically,approximatelythreetofourtimesmorewomenthanmendevelopthedisease .Sclerodermacandevelopandisfoundineveryagegroupfrominfantstotheelderlybutitsonsetismostfrequentbetween25and55 .

Factorsotherthangender,suchasraceandethnicbackground,mayinfluencetheriskofgettingscleroderma,theageofonsetandthepatternorseverityofinternalorganinvolvement .Thereasonsforthisarenotclear .Althoughsclerodermaisnotdirectlyinherited,somescientistsfeelthereisaslightpredispositiontoitinfamilieswithahistoryofrheumaticdiseases .Thissuggeststhattherearesomegenesthatcanpredisposetowardgettingscleroderma .Inaddition,somegenesmayinfluencethetypeandseverityofthisdisease .

What causes scleroderma?Theexactcauseorcausesofsclerodermaarestillunknown,butscientistsandmedicalinvestigatorsinawidevarietyoffieldsareworkinghardtomakethosedeterminations .

Whatisknownaboutthediseaseprocessinsclerodermaisthatitinvolvesthreefeatures:

✦anoverproductionofcollagen .✦anautoimmuneprocess .✦bloodvesseldamage .

Collagenisthemajorproteinportionoftheconnectivetissueofthebody,whichincludestheskin,joints,tendonsandpartsofinternalorgans .Collagenismadeupoftinyfibers,whichweavetogethermuchlikethethreadsformingapieceofcloth .Whenthereisanoverproductionofcollagen,thickeningandhardeningoftheaffectedareastakesplace,ofteninterferingwiththenormalfunctioningofthoseparts .

Thereareseveraltheoriesabouthowcollagenisoverproduced .The“autoimmunetheory”suggeststhatthebody’sownimmunesystemplaysapart .Normally,thebody’simmunesystemproduceschemicalsignalsinthebloodcalledcytokines,whichcoordinatethebody’sdefenseagainstbacteria,virusesandotherforeigninvaders .Inaddition,somecytokineshelptorepairwoundsbystimulatingcollagenproductionthatformsascar .Thereareanumberoftheoriesinwhichtheimmunesystemisactivatedinappropriately,causingabnormallevelsofcytokinestobeproduced .These,inturn,mountanattacknotagainstaforeigninvaderbutagainstthebody’sownhealthytissues,stimulatinganoverproductionofcollagen .

The“vasculartheory”concernsbloodvessels .Damagetothebloodvessels,especiallythesmallones,istypicalinscleroderma .Injurytobloodvesselscausesthemtoconstrictandstiffen,andleadsthemtooverreacttocoldorstress .Thesereactionscancausefurtherdamagetothevesselsthemselvesandtotheorgans,whichtheysupply .Theremayalsobeaconnectionbetweenthebuildupofexcesscollagenandbloodvessels,theprocesseswhichtakeplace,andtheirsignificanceforpreventionandtreatment .

Researchisbeingdonetostudytheseandothertheories .Itishopedthatabetterunderstandingofwhatcausessclerodermawillleadtobettertreatmentmethodsand,ultimately,toacure .

Are there different forms of scleroderma?Therearetwomajorclassificationsofscleroderma:localized scleroderma(morphea)andsystemic sclerosis(SSc) .Thesystemicformisusuallysub-dividedintolimitedanddiffuseSSc .

Localized sclerodermaThechanges,whichoccurinlocalizedscleroderma,areusuallyfoundinonlyafewplacesontheskinormuscles,andrarelyspreadelsewhere .Generally,localizedsclerodermaisrelativelymild .Theinternalorgansareusuallynotaffected,andpersonswithlocalizedsclerodermararelydevelopsystemicscleroderma .Somelaboratoryabnormalitiescommonlyseeninsystemicsclerodermaarefrequentlyabsentinthelocalizedform .

Morpheaisaformoflocalizedsclerodermacharacterizedbywaxy,thickenedpatchesofskinofvaryingsizes,shapesandpigment .Theremaybeasinglepatchorseveral .Thepatchesmayenlargeorshrink,andoftenmaydisappearspontaneously .Morpheausuallyappearsbetweentheagesof20and50,butitcanalsobeseeninyoungchildren .

Although scleroderma is not directly inherited, some scientists feel there is a slight predisposition

to it in families with a history of rheumatic

diseases.

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Linear sclerodermaisaformoflocalizedsclerodermawhichfrequentlystartsasastreakorlineofhardened,waxyskinonanarmorlegorontheforehead .Sometimesitformsalongcreaseontheforeheadreferredtoassclerodermaen coup de sabrebecauseitresemblesasaberorswordwound .Linearsclerodermatendstoinvolvedeeperlayersoftheskinaswellasthesurfacelayers,andsometimesaffectsthemotionofthejointswhichlieunderneath .Linearsclerodermaoftendevelopsinchildhoodalthoughitcanstartinadultsaswell .Inchildren,thegrowthofinvolvedlimbsmaybeaffected .

Systemic scleroderma (systemic sclerosis, SSc)SSccaninvolvetheskin,esophagus,gastrointestinaltract(stomachandbowels),lungs,kidneys,heartandotherinternalorgans .Itcanalsoaffectbloodvessels,musclesandjoints .Thetissuesofinvolvedorgansbecomehardandfibrous,causingthemtofunctionlessefficiently .Thetermsystemic sclerosisindicatesthat“sclerosis”(hardening)mayoccurintheinternalsystemsofthebody .Therearetwomajorrecognizedpatternsthattheillnesscantake-diffuseorlimiteddisease .Indiffusescleroderma,skinthickeningoccursmorerapidlyandinvolvesmoreskinareasthaninlimiteddisease .Inaddition,peoplewithdiffusesclerodermahaveahigherriskofdeveloping“sclerosis”orfibroushardeningoftheinternalorgans .

About50percentofpatientshavelimited SSc .Inlimitedscleroderma,skinthickeningislesswidespread,typicallyconfinedtothefingers,forearms,handsandface,andtendstodevelopmoreslowly .Althoughinternalproblemsoccur,theyarelessfrequentandtendtobelessseverethanindiffusescleroderma,andareusuallydelayedinonsetforseveralyears .However,personswithlimitedSSc,andoccasionallythosewithdiffusedisease,candeveloppulmonaryhypertension,aconditioninwhichthebloodvesselsinthelungsbecomenarrow,leadingtodecreasedbloodflowthroughthelungsandshortnessofbreath .

LimitedSScwasformerlycalledtheCREST syndrome .CRESTstandsfortheinitiallettersoffivecommonfeatures:

✦Calcinosis✦RaynaudPhenomenon✦Esophagealdysfunction✦Sclerodactyly✦Telangiectasia

Tofurthercomplicatetheterminology,somepeoplewithdiffusediseasewillgoontodevelopcalcinosisandtelangiectasiassothattheyalsohavefeaturesofCREST .

Althoughmostpatientscanbeclassifiedashavingeitherdiffuseorlimiteddisease,differentpeoplemayhavedifferentsymptomsanddifferentcombinationofsymptomsoftheillness .

How is scleroderma diagnosed?Diagnosisofmorpheaisusuallymadebyaskinbiopsyofoneoftheskinpatches .BloodtestsforSScareusuallynegative .

Diagnosisofsystemicsclerosis(SSc)maybeverydifficult,particularlyinitsearlystages .Manyofitssymptomsarecommonto,andmayoverlapwith,thoseofotherdiseases,especiallyotherautoimmuneconnective-tissuediseasessuchasrheumatoidarthritisandlupus .Differentsymptomsmaydevelopinstagesoveranextendedperiodoftime,andfewpeoplewithSScexperienceexactlythesamesetofsymptomsandeffects .

WhileSSccanoftenbesuspectedfromitsmorevisiblesymptoms,nosingletestcanproveitspresence .Doctorswithextensiveexperienceinthetreatmentofsclerodermausuallymakeadiagnosisbyacombinationofthefollowing:apatient’smedicalhistory,includingpastandpresentsymptoms;athoroughphysicalexamination;andfindingsfromavarietyoflaboratorytestsandotherstudies .TheAmericanCollegeofRheumatologyalongwithitsEuropeancounterpart(EuropeanLeagueofAssociationsforRheumatology,EULAR)recentlyrevisedtheclassificationcriteriaforSSctohelpdoctorsmakemoreaccurateandearlydiagnosis .InmanagingSSc,itisimportantnotonlytoconfirmthediagnosis,butalsotodetermineitsextentandseverity,particularlywithregardtotheinvolvementofinternalorgans .

Diffuseandlimitedsclerodermacansometimesbedifferentiatedbythepresenceofdifferentantibodiescalledanti-nuclear antibodies (ANA) intheblood .Forexample,anti-Scl-70isfrequentlyassociatedwithdiffuseskininvolvementwhereasanti-centromereisusuallyindicativeoflimitedscleroderma .

Test Diffuse patients Limited patientsAnti-nuclearantibody . . . . . . . . . . . . 90percenttestpositive 90percenttestpositiveAnti-centromereantibody . . . . . . . . 3percenttestpositive 40percenttestpositiveAnti-Scl-70antibody . . . . . . . . . . . . . 30percenttestpositive 20percenttestpositiveAnti-RNAPolymeraseIIIantibody . . 25percenttestpositive 10percenttestpositive

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What are the symptoms of SSc, and how are they treated?ThissectiondescribesthemostcommonsymptomsofSScandsomeofthetreatmentsbeingusedtocontrolthem .Sclerodermaisacomplexdiseasewithmanypossiblesymptomsthatcanaffectmanypartsofthebody .Mostpeopleonlydevelopafewofthesymptomsmentioned .Eachpatientisdifferentinthenumberofsymptomsandtheirseverity .Typically,thesymptomsmayalsovaryovertimewithperiodsofimprovementandworsening .Itisnotpossibleinabookletofthislengthtodescribeeverysymptomorallofthemethodsbeingusedinsclerodermamanagement .Agreatvarietyoftreatmentsandmedicationshavebeentriedovertheyearsandnewonesareconstantlybeingtested .Physiciansexperiencedinsclerodermashouldbeconsultedregardinganysymptomsortreatmentsmentionedhere,aswellasforanyothersymptomsthatmaybeexperienced .

Eventhoughsclerodermahasnocure,manyofthesymptomscanbeimprovedwithmedicationorlifestylechanges .Itisimportanttopointoutthatnotallcomplicationsdevelopinallpatientsevenaftermanyyears .

Raynaud Phenomenon in SScRaynaudPhenomenonisthemostcommonearlysymptomofSSc .Itispresentatonetimeoranotherinabout90percentofpatients .Itismostobviousinthefingersandtoesbutcanalsoinvolvetheears,noseandtipofthetongue .InRaynaudPhenomenon,thebloodvesselsconstrictornarrowinresponsetocoldoremotionalupsetandstress .Theresultingdisturbanceinbloodcirculationcausesaseriesofcolorchangesintheskin:white,blanched

orpale,whencirculationisreduced;blueastheaffectedpartlosesoxygenfromdecreasedbloodflow;andthenredorflushedasbloodflowreturnsandthepartre-warms .Finally,astheepisodesubsidesandthecirculationreturnstonormal,usualskincolorisrestored .Inthe“white”or“blue”stages,sensationssuchastingling,numbnessandcoldness

maybefelt .Inthe“red”stage,afeelingofwarmth,burningorthrobbingmaybenoted .SomepeoplefindRaynaudattackspainful .

Manycommon-sensepreventivemeasurescanbetakenbythosewithRaynaudPhenomenon .Mostobviousisminimizingexposuretocold,suchasoutdoorweather,airconditioning,orreachingintoarefrigeratororfreezer .Keepingyourextremitiesandbodywarmisveryimportant .Glovesormittensshouldbeworn,andanumberofwarmingdevicesareavailabletoprotectthehands .Hats,earmuffs,heavysocksandwarm,layeredclothingmadefromsilk,cotton,woolanddownfeatherscanhelpmaintaincentralbodytemperature .Itisimportanttoprotectthehandswithgloveswhentouchingrefrigeratedorfrozenitems .Electricheaters,electricblanketsandcomforterscansupplementtheheatinthehomeorapartment .KeepingtheentirebodywarmhelpspreventRaynaudepisodes .Awarmbathorshower,orheatingpadorhotwaterbottleonthebackoftheneckmayrelieveanattackbetterthanjustwarmingthehands .Avoidanceofemotionalupsetandstresscanhelpbutisn’talwayspossible .

Variousrelaxationtechniques,whetherself-taughtorlearnedthroughtrainingcourses,proveeffectiveforsomepeopletomanagestress .Oneparticulartechnique,biofeedback,hasbeenusedtoincreasefingertemperature .

SmokingdefinitelyworsensRaynaudPhenomenon .Forthisandotherreasons,personswithsclerodermashouldnotsmoke .

WhenRaynaudPhenomenondoesoccur,carefullywavingthearmsinanunderhand,circularmotion(likeasoftballpitcher)canhelptorestorebloodcirculation .Rubbingormassagingthehandsandfeetmayalsohelp .

Physiciansuseanumberofdifferentmedicationstoprevent,reducethefrequencyorminimizetheeffectsofRaynaudPhenomenon .Mostofthesedrugsdilateoropenupthebloodvessels .Drugscommonlyusedincludevasodilatorssuchasprazosin,orcalciumchannelblockerssuchasnifedipine .Mildbloodthinnerssuchasaspirin,ordrugsthatdecreasethestickinessofplatelets,mayimprovecirculation .Therearenowmorethanadozenmedicationstoimprovecirculation,anditisnotpossibletolistthemallhere .

Even though scleroderma has no

cure, many of the symptoms can be

improved with medication or lifestyle

changes.

Many common-sense preventive measures can be taken by those susceptible to Raynaud phenomenon.

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Decreasedcirculationtothefingerscanresultinskinbreakdownatornearthetipofthefingerresultinginpainfululcers .About40%ofSScpatientswilldevelopatleastoneofthesepainfululcersatsometimeinthecourseofthisdisease .Thesesoresinitiallydevelop“spontaneously”duetolackofbloodsupplyandareusuallynotduetoaninfection .However,ifthearearemainsopenforanylengthoftime,itcanbecomesecondarilyinfected .Treatmentoftheseulcersincludeoptimizingthecirculationwithmedicinetodilateoropenupthesmallbloodvessels(vasodilators),beingcarefultokeeptheareacleanandprotectedfrominjury .Typically,theseulcerscanlastforweeksandsometimesmonths .

AlthoughalmosteveryonewithSScwillalsohaveRaynaudPhenomenon,theoppositeisnottrue,thatis,noteveryonewithRaynaudPhenomenonhasSSc .PrimaryRaynaud’sdisease(intheabsenceofanautoimmunedisease)isactuallyquitecommon,affectingabout10%ofadultAmericanwomenandabout5%ofmen .Itcanalsobeseeninpeoplewithlupus,rheumatoidarthritisandotherconnectivetissuediseases .

Swelling or puffiness of the hands SwellingisanothertypicalearlysymptomofSSc,andthismaybeespeciallynoticeableuponwakingupinthemorningwithsomeimprovementasthedaywearson .Theskinofthefingersmaylookfullandsausage-like,makingitdifficulttoclosethehandintoafist .Somepatientsmayhavetogettheirringsresized .Exercisingthefingersandtoescanhelp .Yourphysicianmayrecommendmedicationstoreduceinflammation .

Pain and stiffness of the jointsSymptomsofpain,stiffnessandswelling,mayaccompanythearthritis-likejointinflammationwhichcanoccurinSSc .Musclepainandweaknessareotherimportantsymptoms .Anti-inflammatorymedicationsmayhelp .Besuretodiscussthesemedicationswithyourdoctorifyouhavedigestiveproblemsbecausetheymayirritatethestomach .Othertreatmentsandsuggestionsareincludedinthesectionson“PhysicalTherapyandExercise”and“ProtectingtheJoints .”Aphysicaltherapistcandevelopanexerciseplanafterconsultingwithyourphysician .

Skin ComplicationsSkin thickening.Hardeningandthickeningoftheskingivesclerodermaitsname(“hardskin .”)Somemedicationshavebeenshowntoimprovetheskinchangesinsclerodermaalthoughtheimprovementhasbeenrelativelymodest . .Manyothermedicationsandtreatmentsarebeingtested .Theskinwillsometimessoftenspontaneouslyovertime .

Skin ulcerations.Sores,especiallyonthefingertips,areacommonsymptomofSSc .Theytypicallyarepainfulandslowtohealbecauseofpoorcirculation .Thesesoresorulcerationsmayalsooccurontheknuckles,elbows,toesorothersitesofthebodywheretheskinisespeciallytightorstretched .Theaffectedareashouldbekeptwarmtoincreasebloodflowandcarefullycleanedtoavoidinfection .Ifaninfectiondevelops,itmayhelptosoaktheaffectedareainwarmwater,applyatopicalantisepticoruseanantibioticointment .Shouldtheseremediesproveunsuccessfulinrelievingthepainorinfectionofulceratedskin,yourdoctormayprescribeoralantibioticsortakeothermeasures .

Calcinosis.Thisconditionischaracterizedbydepositsofcalciuminandjustundertheskin,whichmaybepainful .Thecalciumdepositsformhardlumpsornodules .Theymaybreakthroughtheskinanddrainchalkywhitematerial,andmaybecomeinfected .Careshouldbetakennottobumporinjureaffectedareas .Warm-watersoaksmaybehelpful .Antibioticsmaybeprescribedtopreventorcontrolinfection .Inseverecases,surgerytoremovecalciumdepositsmayberequired .

Telangiectasia.Thisabnormalityconsistsofthedilationofsmallbloodvesselsnearthesurfaceoftheskin,whichbecomevisibleassmallredspots,usuallyonthefingers,palms,faceandlips .Thespotsusuallyfadewithpressure,butturnredagainwhenthepressureisreleased .Thesespotsaregenerallynotharmful .Specialmake-upmaybeusedtomaskthespotsortoreducetheirvisibility .

Dry skin.Excessivedrynessoftheskinmayleadtoskinbreakdownandulcerations .Excessivebathingandhandwashingshouldbeavoided,andrubberglovesworntoavoiddirectcontactwithhouseholddetergents .Keepingtheskinmoistandwell-lubricatedisimportanttoavoidcomplicationsfromdryskin .Bathoilsandmoisturizingsoapsarepreferabletoharshsoapswhichdryouttheskin .Frequentuseofmoisturizingskincreamscontaininglanolinisadvised .Duringthewintermonths,ahumidifiermayhelp .

Hardening and thickening of the skin give scleroderma its name (“hard skin.”) The skin sometimes softens spontaneously over time.

12 S C L E R O D E R M A F O U N D A T I O N U N D E R S T A N D I N G A N D M A N A G I N G S C L E R O D E R M A 13

Itchy skin.Ifmoisturizingcreamsdonotwork,yourdoctormayprescribeatopicalcortisonecreamtorubontheskintorelieveitching .Antihistamineshavebeeneffectiveforsomepeople .

Other skin symptoms.Theremaybeadecreaseinhairoveraffectedareasoftheskin,aswellasadecreaseintheabilitytosweat .Inaddition,theremaybeanincreaseinpigment(whichlookslikeaskintan)oraspottylossofpigment(saltandpepperappearance) .ThepigmentchangesusuallyoccurearlyinSScandthencanfadebacktoamorenormalskintoneafter5yearsorso .

Sclerodactyly and joint contracturesSclerodactylymeans“hardskinofthedigits,”particularlythefingersandtoes .Itgenerallyoccursafterinitialswellinghassubsided .Itischaracterizedbyshiny,tightandthickenedskinofthefingers .

Affecteddigitsmaybedifficulttomove,andtheymaybecomefixedinabentorflexedpositioncalleda“contracture”or“flexioncontracture .”Tighteningandhardeningoftheskinandtissuessurroundingthejointscancausedecreasedmotionofthewrists,elbowsandotherjoints .

“Rangeofmotion”exercisesperformeddailyareimportanttopreventorslowdownthedevelopmentofsuchcontracturesandtomaintainlimberjoints .Theymayalsohelptoincreasebloodsupplytothetissues .Theseexercisesaresimpletoperformandcanbedoneathome .Atypicalexerciseconsistsoflayingthehandasflataspossibleonatable,placingtheheeloftheotherhandacrossthefingers,andgentlypressingdowntostraightenthefingers .Anoccupationaltherapistcandevelopanexerciseplanafterconsultingwithyourphysician .He/shealsomayprovidedevicestohelpperformcommonpersonalcareandhouseholdtasksmoreeasily .

Digestive system and gastrointestinal tract problemsPeoplewithsystemicsclerodermamaydevelopabnormalitiesofthedigestivesystemandgastrointestinaltractfromthemouthtotheanalcanal .Theoverproductionofcollagentypicalofsclerodermacancausethickeningandfibrosis(orscarring)ofthetissues .Thiscanresultinweakenedmuscles,andleadtotheabnormallyslowmovementoffood(dysmotility)inthedigestiveprocess .

Esophageal dysfunction.Foodtravelsfromthemouthandthroatintothestomachthroughatubecalledtheesophagus .Normally,theloweresophagealsphincter,orvalve,actsasagatewhichopenstoallowfoodtoenterthestomachandthenclosespromptlytopreventfoodfromcomingbackup .InSSc,thisvalvedoesnotcloseproperlyandtheresultisabackwashofacidandaburningsensation(heartburn,gastroesophagealrefluxdiseaseorGERD)asfoodandacidreturnintotheesophagus .Theacidmayalsoinjuretheliningofthelowerportionoftheesophagus,causingulcersoraanarrowing(stricture)ofthetube .

Acidproductioncanbereduced,andtheproblemsofacidrefluxandheartburnhelped,byavoidingalcohol,greasyorfattyfoods,spicyfoods,carbonatedbeverages,chocolate,tobaccoandcaffeine .Antacids(particularlyinliquidform)canhelpneutralizeacidsandreduceheartburn .Someantacidscauseconstipationwhileotherscausediarrhea .Consultyourphysicianorpharmacistwhenchoosingover-the-counterproducts .YourdoctormayprescribeantacidmedicationssuchasprotonpumpinhibitorsorH-2blockerstodecreaseacidproductioninthestomach .ThephysicianalsomayprescribeadrugsuchasmetoclopramidewhichpromotesmuscularactivityandcausesthemusclesoftheGItracttoworkbetter .

Theforceofgravityhelpstokeepfoodandacidinthestomach;therefore,anuprightpositionduringandaftermealsishelpful .Othercommon-sensemeasurestopreventacidfromcomingupintotheesophagusincludeeatingsmallerandmorefrequentmeals,noteatingforseveralhoursbeforebedtime,andelevatingtheheadofthebedsix-to-eightincheswithwoodenblocks .Beingoverweightisharmful,andyoushouldavoidwearinggirdlesorothertight-fittinggarments .

Swallowing difficulties .Abnormallyslowmovementoffoodandnarrowingoftheesophagusmaycauseswallowingdifficulties .Eatingslowlyandchewingthoroughlyareimportant .Swallowinganddigestingaremadeeasierbyeatingsofterfoods(manyfoodscanbepreparedinablender)andavoidingfoodswhichtendtostickinthethroat .Iftheesophagushasnarrowedsignificantly,thephysicianmayneedtodilatetheesophagusperiodicallytopermiteasierswallowing .

Keeping the skin moist and well-lubricated

is important to avoid complications from

dry skin.

“Range of motion” exercises performed daily are important to prevent or slow down the development of such contractures and to maintain limber joints.

14 S C L E R O D E R M A F O U N D A T I O N U N D E R S T A N D I N G A N D M A N A G I N G S C L E R O D E R M A 15

Diarrhea.InSSc,therecanbedamagetothemusclesofthesmallbowel(smallintestine) .Theweakenedmusclesdonotworkeffectivelytopushfoodthroughthebowel .Simplyput,thingssitratherthanmovewell .

Oneconsequencecanbeanovergrowthofbacteria,leadingtodiarrhea .Therealsomaybeabloated,distendedfeelingandsomepainifthebowelisstretched .Anothereffectisthatthenutrientsoffoodremaininthebowelinsteadofbeingabsorbedintothebody .Thisconditioniscalledmalabsorption,anditmayleadtoweightlossandstoolabnormalities .

Fordiarrheaormalabsorption,thephysicianmayprescribeanantibiotic,orsupplementaryfat-solublevitamins,and/oriron .Yourdoctoralsomaysuggestthatyoureducetheamountoffattyfoodsinyourdiet .

Constipation.Weakorscarredmusclesinthecolon(largebowel)makeitdifficultfortheboweltoworkwell,resultinginconstipation .Freshfruitsandvegetablesarenaturallaxatives .Exercisealsohelpstokeepbowelmovementsregular .Yourdoctoralsomayrecommendstoolsofteners .Althoughtheroutineuseoflaxativesisusuallytobeavoided,thismaybenecessaryifthereispersistentconstipationunresponsivetothemeasuressuggestedabove .

Sjögren SyndromeSjögrenSyndrome(dryeyesanddrymouth)ischaracterizedbyadecreaseinsecretionsofthetearglandsandthesalivaryglands,whichprovidelubricationfortheeyesandmouth .Theunusualdrynessoftheeyesresultingfromthisconditioncanleadtoseriousirritationandinflammation .Excessivedrynessofthemouthmayleadtodifficultiesinswallowingandspeaking,anincreaseintoothdecayandcavities,andareducedsenseoftaste .ThelackofsecretionsinSjögrenSyndromealsomayinvolvethevagina .Dryeyesmaybelubricatedbythefrequentuseofartificialtearsandophthalmicointments .Regularvisitstoanophthalmologistareimportant .Themouthshouldbekeptaswell-lubricatedaspossiblebysippingfluidsduringtheday(aplasticsquirtbottlefilledwithwatermayhelp),andbychewingsugar-freegumorsuckingsugar-freesourcandytostimulatesalivaryactivity .Artificialsalivaisalsoavailable .(Seenextsectionforpreventivedentalcare .)

Yourdoctormayprescribeapropionicacidgelpreparationorvaginalcreamtolubricatethevaginaandfacilitatesexualrelations .Avoidingpantyhoseandothertight-fittingclothingmayhelptoreduceirritationandpreventinfection .Choosecottonratherthannylonunderwear .

Oral, facial and dental problemsPeoplewithSScmayexperienceageneraltighteningofskinovertheface .Theopeningofthemouthmaybedecreasedinsize,makinglipandmouthmovementsaswellasoralhygienedifficult .

Thebestapproachtotreatmentisbymeansoffacialgrimacingandmouthstretchingexercises,includingtheuseoforalaugmentationpropsinsertedbetweentheupperandlowerteeth .Whendoingtheseexercises,becarefultoavoidfurtherdamage,especiallytothejawboneandteeth .Particularcareisadvisableinusingaugmentationdevices .Consultwithyourdentistbeforestartinganyexercisesorusinganyaugmentationdevice .

Preventivedentalcareincludingregularflossingandbrushingoftheteethandgumsisveryimportant,asareregulardentalvisitsfororalhealthandfortheearlydetectionandpromptcorrectionofanyabnormalities .Thedentistalsocanrecommendagoodoralhygieneprogram .Flossholders,pumptoothpastetubesandbuilt-uphandlesontoothbrushescanhelppeoplewithhandimpairment .(ThesemeasuresareequallyimportantforthosewithSjögrenSyndrome .)

Kidney involvementKidneyorrenalinvolvementinSScmaybemildorveryseriousinnature .Earlysignsofkidneyinvolvementmayincludemildhypertension(highbloodpressure),proteinintheurineandbloodtestabnormalities .Renalcrisis,ahighlydangerouscomplicationmayoccurquitequickly .Themostimportantwarningsignisasuddenriseinbloodpressure .Othersymptomsareheadache,visualdisturbances,shortnessofbreath,chestpainordiscomfort,ormentalconfusion .Unlesstreatedpromptly,renalcrisisleadstokidneyfailure,aconditioninwhichthekidneyslosetheirabilitytoeliminatewasteproductsfromthebody .Thetreatmentofchoiceinvolvesanti-hypertensivedrugsthatbelongtothecategoryofACEinhibitors .Thesemedicationsarequiteeffectivetocontrolbloodpressureandstabilizeorimprovekidneyfunction .Incases

Fresh fruits and vegetables are natural

laxatives. Exercise also helps to keep bowel movements regular.

The most important warning sign is a sudden rise in blood pressure.

16 S C L E R O D E R M A F O U N D A T I O N U N D E R S T A N D I N G A N D M A N A G I N G S C L E R O D E R M A 17

ofseverekidneyfailure,dialysismayberequired .PeoplewithearlySScareadvisedtochecktheirbloodpressureathomeandtohavetheirkidneyfunctionmonitoredatregularintervals .Peoplemayrecoversuccessfullyfromrenalcrisis,butonlyiftheproblemisrecognizedandtreatedquickly .

Lung involvementMultiplefactorscancauselunginvolvementinsystemicscleroderma .Build-upofcollagenthickenslungtissueandcausesfibrosisorscarring,makingthetransportofoxygenintothebloodstreamlessefficient .

Pulmonaryarterialhypertension(PAH),astateofincreasedresistancetobloodflowthroughthelungs,canresultfromdamagetobloodvessels,andmayleadtoadditionalstrainontheheartresultinginheartfailure .Respiratorymuscleweaknessmaydecreaselungfunction .

Symptomsoflunginvolvementincludeshortnessofbreath,adecreasedtoleranceforexerciseandapersistentcough .Thephysicianmayorderachestx-ray,anechocardiogram(ultrasound

oftheheart),specialbreathingtests(pulmonaryfunctiontests)oraCATscanofthelungstodetectorconfirmlunginvolvement .

Intheearlystagesoflungfibrosis,medicationsmaybegiventodecreasetheinflammationwhichisthoughttoleadtolungscarring .

RecentlytwodifferentmedicineshavebeenshowntoimproveorslowtheprogressionoflungfibrosisinSSc .Theseincludecyclophosphamide(aformofchemotherapy)andmycophenolatemofetil(amedicinethatcausesimmunosuppression) .Inaddition,severalotherdrugsarebeingstudiedandholdpromiseforthiscomplication .ItisalsoimportantforSSctotakewhatevermeasuresarewithinhisorhercontroltoavoidfurtherdamagetothelungs .Itisessentialtoavoidsmoking,amajorcauseoflungdisease .Exposuretoairpollutantsmayworsenbreathingproblemsandshouldbeavoidedtotheextentpossible .Yourdoctormayrecommendmedicationstomakebreathingeasierandmayalsosuggestdeepbreathingexercisesandagraduatedaerobicexerciseprogram .

Peoplewithpulmonaryarterialhypertensionmaybetreatedwithspecialmedicationstargetedatdilatingoropeningupthebloodvesselsofthelungs,andpossiblychangingtheunderlyingnatureofthedisease .ThisisanothercomplicationofSScforwhichnewmedicationshaveprovensuccessful;therearenowmultiplemedicationswhichcanbeused .

Heart involvementIftheheartmusclebecomesthickenedandfibrousscartissueaccumulates,theforceofheartcontractionsmaybedecreased,whichlimitstheefficiencyoftheheart .Ifthescarringinvolvestheelectricalconductionsystemoftheheart,palpitationsorchangesinheartrhythmcanresult .Therearemedicationwhichcanimprovethisandsometimesapacemakerisneeded .Inflammationoftheouterheartlining(pericarditis)maycausepainandaccumulationoffluidaroundtheheart .Anirregularheartbeatmayalsooccur .Theseconditionsrequirecarefulevaluationandtreatmentbythephysician .

Non-specific symptomsThepersonwithSScmayexperienceavarietyofnon-specificsymptoms,includingfatigue(rangingfrommildtosevere),lackofenergy,generalizedweakness,weightloss,andavagueachingofmuscles,jointsorbones .Treatmentsormedicationsrecommendedbythephysicianwilldependonhis/herevaluationofthecausesofthesesymptoms .

Managing sclerodermaYoumayknowotherformsoftreatmentthathavebeenusedorareproposedforusetomanagesclerodermainadditiontothosediscussedinthisbooklet .Sclerodermaisadifficultdiseasetostudybecauseofitsvariablenature,itsprolongedcourseandtherelativelysmallnumberofpersonsaffectedbyit .Currently,thereareseverallargeclinicaltrialsbeingconductedforthedifferentmanifestationsofSSc .Yourphysicianmustoftenmaketreatmentdecisionsbasedonincompleteinformation .He/shemustweighthepossiblebenefitsagainstthepotentialrisksorsideeffects .

The course of sclerodermaSclerodermahasmanyformsandanumberofdifferentsymptomsthatmaypresentthemselvesaloneorincombinationsatvarioustimesthroughoutthecourseofthedisease .Somesymptomsdevelopwithrelativesuddenness;othersmaytakeyearstodevelop .Theexactcourseinanyindividualpatientissomewhatunpredictable,andtheprognosis(long-termoutcome)willvaryforeachperson .SScisachronic,life-longdisease .Currently,thereisnoknowncure,butaswithotherchronicdiseasestherearemanywaystocontrolormanageitssymptoms .It

Symptoms of lung involvement include

shortness of breath, a decreased tolerance

for exercise and a persistent cough.

18 S C L E R O D E R M A F O U N D A T I O N U N D E R S T A N D I N G A N D M A N A G I N G S C L E R O D E R M A 19

ishelpfultokeepsclerodermainperspective .Manypersonswiththediseasehavefeworminimalsymptomsandareabletoleadanormalornearly-normallife .

Theremaybeperiodsoftimewhenthepersonwithsclerodermawillbefreeoftroublingsymptomsandfeelwell .Atothertimes,heorshemayfeelquiteill .Spontaneousimprovementsmayoccur .Theskin,inparticular,sometimessoftensandbecomesmorepliableafteranumberofyears .

Being alert to symptomsThisbookletdescribesmanysymptomsalthougheachpersonwithsclerodermausuallydevelopsonlyafewofthem .Itspurposeisnottooverwhelmpeoplebuttoprovidethemwithusefulinformationonwhattolookfor,whatmayoccurduringthecourseofthedisease,andsomeofthethingsthatcanbedoneifsymptomsdodevelop .

Learningtorecognizeearlysymptomsofdiseaseactivitycanleadtoearlierdetectionanddiagnosisofsclerodermaandtopromptstartoftreatment .Someofthemorepromisingmedicationsincurrentuseareslow-actingandthesoonertreatmentbegins,thebettertheresultsmaybe .Ifonehasalreadybeendiagnosedwithscleroderma,itisespeciallyimportanttowatchforandreporttothephysicianneworchangedsymptoms .Earlytreatmentmaypreventsymptomsfromworseningandmaydecreasethechanceofpermanenttissueororgandamage .

Inbeingalerttosymptoms,itwouldbeamistaketoassumethateverysymptomorconditionthatdevelopsisnecessarilyrelatedto,ortheresultof,scleroderma .Peoplewithorwithoutsclerodermadosufferaccidents,contractinfectiousdiseasesanddevelopotherillnesses .

Thephysiciancanhelptodistinguishwhatisrelatedtosclerodermaandwhatisnot,andrecommendappropriatetreatment .

Developing an individual treatment programWhilethereisnoprovencureforscleroderma,muchcanbedonetoprevent,minimizeoralleviateitseffectsandsymptoms .JustasSScsymptomsvarygreatlyfromindividualtoindividual;themannerinwhicheachpersonrespondstotreatmentmayalsovary;andtherearemanytreatmentoptions .Itisimportantthataphysicianexperiencedinsclerodermamanagementworksoutanindividually-tailoredprogramtomeetthespecificneedsofapersonwiththisdisease .Closecooperationwiththephysicianwillhelphimorherdevelopsuchaprogram .

Manyformsoftreatmenthavebeendiscussedalreadyinthechaptertitled“Whatarethesymptomsofscleroderma,andhowaretheytreated?”Thenextsixsubheadswilldiscussotherimportantelementsofaprogramformanagingscleroderma .

Physical therapy and exercisePhysicaltherapistscanhelpthepersonwithsclerodermadevelopanappropriateprogram .Suchaprogrammayconsistof“rangeofmotion”exercises(asmentionedinthepreviouschapterunderthesubhead“Sclerodactylyandjointcontractures”),paraffinwaxbaths,hydrotherapyorwatertherapy,strengtheningexercisesformuscleweaknessandgentlemassage .Thesetreatmentscanbedoneatvariouslocations,includingahospitalphysicaltherapydepartmentorathome .

Yourdoctormayrecommendanexerciseprograminvolvingactivitiessuchasstretching,walkingorswimming .Personswithsclerodermamayfindthattheirtoleranceforactivityandmovementisbelownormal,soactivitiesshouldbecarriedoutinmoderation,restingwhentired .Individualexercisesshouldbeperformedgentlyandwithduecare,andtheexerciseprogramshouldbebuiltupgradually .

Protecting the jointsJointprotectionhelpsminimizefurtherdamageandreducethepossibilityofskinulcersandinfection .Itsbasicprinciplesincludeavoidingorminimizingpressureorstressonthejointsbytheirproperuse,andmaintainingmobilityandfunctionbystretchingand“rangeofmotion”exercises .Avarietyofself-helpaidsandadaptivemechanicaldevicesareavailabletohelpprotectandalleviatestressonthejointswhilestillcompletingdailyactivities .Occupationaltherapistscandemonstratesuchdevicesandgivefurtherinstructiononjointprotection .

Taking medicationsItisessentialthatapersonwithsclerodermatakeallmedicationswisely;takeonlythoseprescribed;readlabelwarningsandfollowinstructionscarefully;andtakethemedicationswhen,forhowlong,andinthe

Your doctor may recommend an exercise program involving activities such as stretching, walking or swimming.

20 S C L E R O D E R M A F O U N D A T I O N U N D E R S T A N D I N G A N D M A N A G I N G S C L E R O D E R M A 21

dosagesprescribedbythephysician .Thepersonwithsclerodermashouldadvisethephysicianofanydrugstakenforotherconditionsincludingover-the-counterpreparations,supplementsorvitamins .Anysideeffectsencounteredshouldbepromptlyreportedanddiscussedwithyourdoctor .

Oneshouldnotbeconcernedifthephysicianprescribesdifferentmedicationsfordifferentpeople .Sclerodermasymptomsvaryfromperson

toperson,requiringdifferenttreatment .Somemaybenefitfromcertaindrugs,whileothersmaynot .Furthermore,individualtoleranceforthedrugsusedinsclerodermavariesgreatly .Thephysicianmayfinditnecessarytoadjustthemedicationprogramaccordingly .

Common-sense measuresWehavediscussedtreatmentoptionsforspecificsymptomsinothersectionsofthisbooklet .Therealsoareanumberofgeneralcommon-sensemeasuresthat

apersonwithsclerodermacantaketoenhancehis/herwell-being .Thesemeasuresinclude:

✦ Avoidingover-fatiguebytakingiteasyandgettingsufficientrest .Knowingyourownlimitsdoesnotindicateyouarelazy .

✦ Learningtocontrolandminimizestress .

✦ Eatingwell-balancedmealsandmaintainingasensibleweight .

✦ Practicinggoodhygienehabits,especiallyoftheskin,teeth,gumsandfeet(includingthewearingofcushionedandwell-fittedshoes) .

✦ Avoidingsmoking .Thehealthrisksofsmokingarewellknownbutfrequentlyignored .Itisparticularlydangeroustopersonswithsclerodermabecauseitcanhaveeffectsonbloodcirculationandlungfunction .

The emotional aspects of sclerodermaAcommonreactiontobeingtoldthatonehasadiseasesuchassclerodermais“Whyme?”Itisnotknownwhysomepeopledevelopthisdiseaseandothersdonot .Onedoesnotbringsclerodermauponhimselforherself;therefore,oneshouldn’tfeelguiltyorresponsiblefortheillness .

Apersonnewlydiagnosedwithsclerodermamayfeelaloneanduncertainaboutwheretoturnforhelp .Heorshemayexperienceanumberofotherfeelingsandemotionalreactionsfromtimetotime,includinginitialshockordisbelief,fear,anger,denial,self-blame,guilt,grief,sadnessordepression .Familymembersmayhavesimilarfeelings .

Feelingsinthemselvesareneithergoodnorbad .Onesimplyhasthem .Sharingthemwithfamilyandfriendsorwithotherswhohavehadsimilarexperiencescanhelp .Professionalcounselingalsocanhelppeoplewithsclerodermaandtheirfamilymemberswhoarehavingdifficultycopingwiththeirfeelings .

Thepersonwithsclerodermamaybea“patient”inthephysician’soffice,hospitalorclinic,butheorsheismuchmorethanthat .Thinkingofoneselfasatotalpersonwithafulllifetoleadmayhelptokeepsclerodermainperspectiveandenableonetomaintainapositivebutrealisticattitude .

Building a health and support networkParticipatingactivelyinone’sownhealthcareisofprimeimportancetothepersonwithscleroderma .Itisequallyimportanttocooperateandcommunicateeffectivelywiththephysicianwhoismanagingthedisease .Whilethesetwo—thepersonwithsclerodermaandthephysician—arethefocalpointofthemanagement“team,”manyotherpeopleandresourcesalsoformahealthandsupportnetwork .

Familyandfriendscanprovideemotionalsupportforthepersonwithscleroderma,encouragehim/hertofollowtherecommendedtreatmentprogram,andassistincarryingoutactivitiesthathe/shefindsdifficult .

Thehealthteambeginswiththephysician,butcanincludemanyotherhealthprofessionalssuchasmedicalspecialists,nurses,physicalandoccupationaltherapists,andpsychologistsorotherstrainedincounseling .

Directoriesofcommunityresourcestypicallylistalargenumberofvoluntaryandgovernmentalagenciesprovidinghealth,socialandrehabilitationservicesthatmaybenefitapersonwithscleroderma .

One does not bring scleroderma upon himself or herself;

therefore, one shouldn’t feel guilty or responsible

for the illness.

Participating actively in one’s own health care is of prime importance to the person with scleroderma.

22 S C L E R O D E R M A F O U N D A T I O N U N D E R S T A N D I N G A N D M A N A G I N G S C L E R O D E R M A 23

Joiningasclerodermasupportgroup,suchasoneaffiliatedwiththeSclerodermaFoundation,enablesthepersonwithsclerodermatomeetandexchangeinformationwithotherswhohavesimilarproblems,aswellastolearnmoreaboutscleroderma .TheFoundationalsomanagesanonlinesupportgroupcommunityathttp://www .inspire .com/groups/scleroderma-foundation .

Theextentofthehealthandsupportnetworkislimitedonlybytheimaginationandresourcefulnessofthosehelpingtocreateit .

Progress through researchIstherehopeandhelp,forapersonwithscleroderma?

Emphatically,yes!

Asthisbooklethasdiscussed,therearemanytreatmentsandmedicationsavailabletohelpapersonwithscleroderma,andmoreandmorephysiciansarebecominginterestedinthedisease .

InvestigatorsthroughouttheUnitedStatesandothercountriesareintensifyingtheireffortstounderstandthenatureanddiscoverthecause

ofscleroderma,tofindbettermeansofpreventionandtreatment,andtofindacure .Theseeffortsreflecttheincreasedinterestinalloftheconnective-tissueandrheumaticdiseases .

Researchhasalreadyresultedinbetterlaboratorytoolstodetecttheearlystagesofsclerodermaandimprovedmethodsofmeasurementtoevaluatediseaseprogressionandtheresultsoftreatment .Variousanimalmodelsofsclerodermahavebeendeveloped .

Investigatorscurrentlyarestudyingtheroleoftheimmunesysteminscleroderma,exploringtherelationshipbetweenbloodvesselchangesandfibrosis,andseekingmarkerstoidentifythevariousformsandsubsetsofscleroderma .Thesearejustafewofthemanystudiesinprogress .

Sclerodermaposesmanyquestions .Answersmaycomefromavarietyofmedicalandscientificfieldsorfromtotallyunexpectedsources…buttheywillcome!

The Scleroderma FoundationTheSclerodermaFoundationisthenationalnonprofitorganizationintheU .S .representingandadvocatingforpersonswithscleroderma .TheSclerodermaFoundationistheleadingnonprofitsupporterofsclerodermaresearch,fundingonaveragemorethan$1millionofnewgrantseachyeartofindthecauseandcureofscleroderma .TheFoundation’sthree-foldmissionissupport,educationandresearch .

TheSclerodermaFoundationhaschaptersandsupportgroupsnationwidetohelppeoplelivingwithsclerodermaandtheirfamilies .TheFoundation’sservicesinclude:

✦ atoll-freetelephonehotline,800-722-HOPE(4673);

✦ anemailaddressforpatientquestions,[email protected];

✦ awebsitewithnewsandinformation,www.scleroderma.org;

✦ aquarterlymagazine,SclerodermaVoice;

✦ afulllineofinformationalliterature;

✦ anationalconferenceforpersonswithsclerodermaandtheirfamilies,featuringleadingmedicalexpertsandotherhealthprofessionals;

✦ educationalmeetingsandworkshopsacrossthecountry;

✦ medicalreferrals;andmanyothersupportservices .TheFoundationanditschaptersandsupportgroupsalsoputpeoplewithsclerodermaincontactwitheachother .

Atthenationalandinternationallevels,theSclerodermaFoundationsupportspeoplewithsclerodermaandtheirfamiliesinmanyways .TheFoundationincreasespublicandprofessionalawarenessofsclerodermathroughnationalpublicitycampaigns .Itdistributesinformationaboutscleroderma,andproduceseducationalliterature(suchasthisbooklet) .TheFoundationadvocatesinWashington,D .C .,forincreasedfederalfundingofsclerodermaresearch,andforlegislationbenefitingpersonswithscleroderma .

TheSclerodermaFoundationcanputyouintouchwiththechapterorsupportgroupnearesttoyou .Ifthereisnosupportgroupnearby,theFoundationcanhelpyoustartone .

Participating actively in one’s

own health care is of prime importance

to the person with scleroderma.

24 S C L E R O D E R M A F O U N D A T I O N U N D E R S T A N D I N G A N D M A N A G I N G S C L E R O D E R M A 25

GlossaryHerearesomeusefuldefinitionsofmedicalwordsandterms .

Acid reflux, heartburn.Stomachacidwhichabnormallytravelsupintoandirritatestheesophagus .(Acidproductionisanormalpartofdigestioninthestomach .)Heartburnreferstopaininthecenterofthechestcausedbyacidreflux .(SeeEsophagitis .)

Analgesic.Amedicationwhichreducesoreliminatespain .Example:aspirinandnon-steroidalanti-inflammatorydrugs .

Antacid.Anagentwhichneutralizesexcessstomachacid .Thismaybeliquid/tabletswhichactimmediatelyinthestomach,orlong-actingmedicationstakenregularlyandabsorbedintothebloodinordertosuppressacidproduction .(SeeAcid reflux .)

Antibiotic.Medicationusedtotreataninfection .Eachantibiotickillsorinhibitsthegrowthofspecificmicroorganisms,soantibioticsareprescribedbasedonthetypeofinfectionpresent .

Arthralgia.Paininajoint .

Autoimmune.Diseaseorantibodywhichactsagainsttheperson’sowntissues .(SeeImmune system .)

Biofeedback.Atechniqueusedtoregulateabodyfunctionusuallyinvoluntarilycontrolled,suchasafingertemperatureorpulserate .Byobservingamachinemonitoringthefunction,apersoncanpracticerelaxationtechniquesandlearntocontrolthefunction .Later,themachinebecomesunnecessary .(SeeRelaxation techniques .)

Biopsy.Theremovalandexaminationoftissue,cellsorfluidfromthebody .

Blanched.Tobecomewhiteorpale .InRaynaudPhenomenon,thefingersandtoesblanchduetoinsufficientcirculationofblood .

Calcinosis.Abnormalaccumulationofcalciumintheskin .

Capillaries.Thesmallestbloodvesselsofthebody,connectingarteriesandveins .

Collagen.Anormal,fibrousproteinfoundintheconnectivetissueofthebody .

Connective tissue.Tissuewhichpervades,supportsandbindstogetherothertissuesincludingmucous,fibrous,reticular,adipose,cartilage,skinandbone .Connective-tissuediseasesareagroupofdiseaseswithsimilarcellularchanges,butwiththesitewherethechangesoccurdeterminingthespecificdisease .Includedarescleroderma,systemiclupuserythematosus,dermatomyositisandrheumatoidarthritis .

Constrict(vessels), stricture(esophagus).Anabnormalnarrowing .

Contraction(ofintestinalmuscles).Therhythmicsqueezingactionofthemusclesofthewalloftheintestinewhichmovesfoodthroughthesystem .Alsocalledperistalsis .(SeeMotility .)

Coronaryarteries .Bloodvesselswhichsupplybloodtotheheartitself .

CREST. Formofscleroderma,whoseinitialsstandforCalcinosis,RaynaudPhenomenon,Esophagealdysmotility,SclerodactylyandTelangiectasia .

Cutaneous.Oftheskin .

Cyanosis.Blueorpurplecolorduetolackofbloodoxygen .InRaynaudPhenomenon,cyanosisofthefingersandtoesmayfollowblanching .

Digits.Fingersandtoes .

Dilate.(esophagus,bloodvessels).Towidenorenlarge .

Diuretic.Medicationtoincreasetheflowofurine,therebydecreasingfluidretentioninthetissues .Alsocalled“waterpills .”(SeeEdema .)

Dysfunction, disfunction.Impairedorabnormalfunctioning .

Dysphagia.Difficultyinswallowing .

Edema.Anabnormalexcessaccumulationoffluidintissuesorcavitiesofthebody .

En coup de sabre.Aformoflocalizedsclerodermawhichformsalongcreaseofwaxyskin,resemblingacutbyasaberorswordwoundusuallyonfaceorneck .

Esophagus, esophagitis.Themuscularswallowingtubeconnectingthemouthandthestomach .Whenproperlyfunctioningitcontractsinsmoothwavestosendfoodtothestomach .Atitslowerendasphincter(ring-likemuscle)openstoallowfoodtopassintothestomach,butclosesagaintopreventstomachacidorpartiallydigestedfoodfrombackingupintotheesophagus .Esophagitisisaninflammationorirritationoftheesophagus .

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Fatigue.Weariness,asenseofbeingoverwhelminglytired,orexhaustion .

Fibrous.Consistingof,orresemblingfibers .

Fibrosis.Abnormalformationofexcessfibroustissue .

Gastrointestinal tract, bowel, diarrhea, constipation.Thegastrointestinaltractisthedigestivesystemwhichbreaksdownfood,allowsabsorptionofnutrients,removalofcellularwasteproducts,andeliminationofsolidwastefromthebody .Itbeginswiththemouthandesophagusandleadstothestomach .Thesmallintestineconsistsoftheduodenum,jejunumandileum .Lastly,thelargeintestine(alsocalledcolon)leadstotherectum .Thetermbowelreferstotheintestine .Theanalsphincteristhemusclewhichcontrolsdischargeofstool .Diarrheaisabnormallyfrequentorexcessivepassingofstool,usuallywatery .Constipationistheabnormallydelayedorinfrequentpassageofstool,usuallyinadryandhardenedstate .Normalbowelmovementsvaryfrompersontopersonandwithdiet .

Hypertension, anti-hypertensive.Abnormallyhighbloodpressure .Ananti-hypertensivemedicationlowersbloodpressure .

Immune system.Thesystemoforgans,cellsandproteinswhichprotectthebodyfromforeignsubstancesbyproducingimmuneresponses .Theimmunesystemorgansincludethethymus,spleen,lymphnodesandbonemarrow .Thecellsincludewhitecells,lymphocytes,TcellsandBcells .Immunoglobulins(antibodies)areproteinsthatcanreactwithand/orneutralizecorrespondingproteinscalledantigens(usuallydamagedorforeignmaterial) .Theimmunesystemisessentiallyprotectiveandhelpfultothebody,butcanbethecauseofdiseaseandallergywhenitattackspartsofthenormalbodyinaprocesscalledautoimmunity .

Inflammation, anti-inflammatory.Tissuereactiontocellinjurymarkedbyredness,heat,pain,swellingandoftenlossoffunction .Capillarydilationandwhitebloodcellinfiltrationhelpeliminateforeignsubstancesanddamagedtissue,sonormally,inflammationisanaturalpartofthehealingprocess .Excessiveorinappropriateinflammationcan,however,causefurtherdamage .Anti-inflammatorydrugscounteractinflammation .

Joint contracture, flexion contracture.Fixationofajointinonepositionpreventingfullrangeofmotion .Inscleroderma,frequentlyaffectingthefingers,duetotighteningandhardeningoftheskinaroundthejoint .Inflexioncontractures,thefingersbecomefixedinabentorflexedposition .

Lacrimal glands.Tear-producingglands,alsospelledlachrymal .

Laxative.Amedicationwhichstimulatesemptyingofthebowels .

Lubrication, secretion.Substancewhichmakesasurfaceslipperyoroily,eitherartificiallybyapplyinglubricatingfluidsornaturallybysecretingfluidsmadebycellsforthispurpose .Example:tears .

Malabsorption.Thereducedabilitytotakenutrientsfromfoodintothecellsofthebodyfromthedigestivetract .

Microstomia.Abnormallysmallmouthopening .

Mixed Connective Tissue Disease.Overlaporpresenceofsymptomsoftwoormorediseasessimultaneously .(SeeCollagen and Connective tissue .)

Morphea.Localizedscleroderma .

Motility, dysmotility.Contractionsofthedigestive-tractmusclesoccurringinrhythmicwaves,propellingfood,allowingabsorptionofnutrients,andeliminationofwastes(feces) .Dysmotilityindicatesweakenedorabsentwavesofcontractionresultinginabnormallyslowmovementoffoodandfeces .(SeeMalabsorption,Gastrointestinaltract,Contraction .)

Occupational therapy.Therapyusingactivityprescribedtopromoterecoveryorrehabilitation .Oftendesignedtoincreaseabilitytoperformactsofdailyliving,suchasgroomingandeating,andconcentratingonthehandsandsmallmusclecontrol .(Abbreviated“OT .”SeealsoPhysicaltherapy .)

Ophthalmic.Relatedto,orsituatedneartheeye .

Pericarditis.Tissueinflammationofthesacenclosingtheheart .

Peripheral blood circulation.Theflowofbloodtothearmsandlegs .

Phenomenon.Anunusual,significant,orunaccountablefactoroccurrencewhich,whenobserved,isofscientificinterest .

Physical therapy.Treatmentofdiseaseandinjurybymechanicalmeanssuchasmassage,regulatedexercise,water,light,heatandelectricity .Oftenconcernedprimarilywithjointmotion,largemusclegroups,andactivitiessuchaswalkingandaerobicandisometricexercise .(Abbreviated“PT .”SeealsoOccupational therapy .)

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Pleurisy.Tissueinflammationofthesacenclosingthelungs .

Prognosis.Predictionoftheprogressionandendresultofadisease,orestimateofchanceofrecovery .

Pulmonary fibrosis.Aprocessinwhichthelungsarescarred,decreasingthetransferofoxygentotheblood .Alsocalledrestrictivelungdisease .

Pulmonary hypertension.Elevatedpressureinthebloodvesselsofthelungs,decreasingbloodoxygenandstrainingtherightsideoftheheart .

Raynaud Phenomenon.AlsocalledRaynaudSyndrome .Adisorderwithrecurringspasmsofthesmallbloodvesselsuponexposuretocold;characterizedbyfingersandtoesturningwhite,blue,andredascirculationabnormallyoverreactstonormalconditions .Emotionalstressmayalsotriggeranattack .NamedfortheFrenchphysician(Dr .MauriceRaynaud,pronounced“Raynode”)whofirstdescribedit .

Relaxation techniques.Stress-reducingprocedures,whichcanalsobeusedtohelpregulatebodyfunctionssuchasfingertemperatureorpulserate .Theseincludetensingandrelaxingmuscles,imagery,breathingtechniques,andmedication .(SeealsoBiofeedback .)

Remission, spontaneous remission.Aperiodduringwhichthesymptomsofadiseasedecreaseorgoaway .Ifthereasonforremissionisnotrelatedtotreatmentbutseemstooccurfornoapparentreason,itiscalledspontaneous .

Renal.Relatingtothekidneys .

Respiratory.Pertainingtobreathingorthelungs .

Salivary glands.Glandswhichsecretefluid(saliva)intothemouth .

Sclerodactyly.Thick,tightskinofthefingersand/ortoes .(SeeJointcontracture .)

Sclerosis.Anabnormalhardeningoftissue .

Sjögren Syndrome.Achronicinflammatorydiseasecharacterizedbydecreasedsecretions,especiallydryeyesanddrymouth,namedfortheSwedishphysicianwhofirstdescribedit .Itmayoccuralone,orasapartofsclerodermaorotherauto-immunediseases .(Pronounced“show-gren .”)

Skin ulceration.Abreakintheskinwithlossofsurfacetissue .Itmayalsobeassociatedwithinflammation,calciumdepositsandinfection .

Spasm.Involuntaryandabnormalcontractionofmuscle .

Stasis.Aslowingorstoppageofbodyfluidsasinvenousstasis .Also,reducedmotilityoftheintestineswithretentionoffeces .

Systemic.Affectingthewholebodyratherthanoneofitsparts .Oppositeoflocalized .

Telangiectasia.Anabnormaldilationofskincapillariescausingredspotsontheskin .

Vascular.Pertainingto,orcomposedofbloodvessels .

Vasodilator.Amedication(orothersubstance)whichcauseswideningofbloodvessels .

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Additional resourcesHerearesomemoresourcesofgoodandreliableinformationaboutscleroderma .

WebsitesSclerodermaFoundationwww.scleroderma.org ThenationalnonprofitorganizationintheU .S .representingandadvocatingforpersonswithscleroderma .

NationalInstituteofArthritisandMusculoskeletalandSkinDiseases(NIAMS)www.nih.gov/niams NIAMS,adivisionoftheNationalInstitutesofHealth(NIH),overseesfederalresearchfundingandotherfederalprogramspertainingtosclerodermaandrelateddiseases .

AmericanCollegeofRheumatologywww.rheumatology.org TheAmericanCollegeofRheumatologyisanorganizationofphysicians,healthprofessionals,andscientiststhatadvancesrheumatologythroughprogramsofeducation,researchandadvocacytofosterexcellenceinthecareofpeoplewitharthritisandrheumaticandmusculoskeletaldiseases .

AmericanAcademyofDermatologywww.aad.org Thisnationalprofessionalassociationfordermatologistscanprovidephysicianreferralsinyourlocalareaandinformationaboutskindiseases .

Recommended ReadingTheSclerodermaBook,SecondeditionByMaureenMayes,M .D .,M .P .H .Acomprehensiveguidetothediseasewrittenespeciallyforpatientsandtheirfamilies .

My notes________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________

Understanding

andManaging

Scleroderma

Maureen D. Mayes, M.D., M.P.H.A publication of

Scleroderma Foundation

300 Rosewood Drive, Suite 105

Danvers, MA 01923

800-722-HOPE (4673) www.scleroderma.org

www.facebook.com/sclerodermaUS

www.twitter.com/scleroderma

Understanding and Managing SclerodermaThis booklet is intended to help people with scleroderma, their families and others interested in learning more about the disease to better understand what scleroderma is, what effects it may have, and what those with scleroderma can do to help themselves and their physicians manage the disease. It answers some of the most frequently asked questions about scleroderma.

DisclaimerThe Scleroderma Foundation does not provide medical advice nor does it endorse any drug or treatment mentioned herein.

The material contained in this booklet is presented for general information only. It is not intended to provide medical advice, to answer questions specific to the condition or problems of particular individuals, nor in any way to substitute for the professional advice and care of qualified physicians. Mention of particular drugs and/or treatments is for information purposes only and does not constitute an endorsement of said drugs and/or treatments.

Thanks!The Scleroderma Foundation expresses its deep appreciation to the many physicians whose efforts have led to this booklet.

Special thanks are owed to Maureen D. Mayes, M.D., M.P.H., of the University of Texas McGovern Medical School, Houston.

Maureen D. Mayes, M.D., M.P.H.

My notes________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________

Funding for this booklet was provided by an educational grant from Actelion Pharmaceuticals U.S., Inc.

Funding for this booklet was provided by an educational grant from Actelion Pharmaceuticals U.S., Inc.

32 S C L E R O D E R M A F O U N D A T I O N

My notes________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________

UnderstandingandManaging

Scleroderma

Maureen D. Mayes, M.D., M.P.H.

A publication of Scleroderma Foundation

300 Rosewood Drive, Suite 105 Danvers, MA 01923