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pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, PakistanSaturday, February 8, 2014 1
A young boy known case of “beta Thalassemia Major”
Resham kareemRoll no “354”Final year MBBS
pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, PakistanSaturday, February 8, 2014 3
Abdul Manan s/o Jamil Ahmad 6 years Resident of Kott Samaba Presented through Pediatrics Emergency on 1st Feb 2014
pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, PakistanSaturday, February 8, 2014 4
Fever
Vomiting
Altered level of consciousness
Yellowish discoloration of eyes and urine 1 day
2 days
pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, PakistanSaturday, February 8, 2014 5
Patient is a known case of Beta Thalassemia Major diagnosed at the age of 6 months.
He was in his usual state of health 2 days back when he developed high grade fever which was sudden in onset,, intermittent and not associated with rigors and chills, flu, and cough. Fever was relieved by medication.
Fever was associated with vomiting, 2-3 times per day, vomitus was yellow in color and contained food particles but no h/o blood in vomitus.
pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, PakistanSaturday, February 8, 2014 6
He developed altered level of consciousness and irritable behavior. It was associated with drowsiness, confusion, disorientation and mood swings.
My patient developed yellow discoloration of eyes and urine , which was associated with itching and bruises.
pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, PakistanSaturday, February 8, 2014 7
There was H/O poor intake of both liquid and solid.
CVS: There is H/O breathlessness on exertion but no Edema feet or cyanosis.
Respiratory system: No H/O cough, wheezing or chest pain
GUS: There is H/O Pain in flank, dysuria, oliguria and yellow colored urine
GIT There is no H/O of diarrhea, constipation, hematemesis or melena, clay
colored stoolpediatric department, Sheikh Zayed Medical
College/Hospital, Rahim Yar Khan, Punjab, PakistanSaturday, February 8, 2014 8
CNS:No H/O of fits, visual loss and weakness.EndocrineNo H/O polydipsia, polyphagia, heat or cold intolerance.Locomoter systemThere is no H/O of joint pain, swelling and stiffness of joint.
pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, PakistanSaturday, February 8, 2014 9
Diagnosis At 6 month of age diagnosed as Thalassemia Major in SZH,RYK when he presented with progressive pallor, fever and vomiting.Transfusion HistoryBlood transfusion started from 6 months of life. First 3 years, transfusion at monthly intervalAfterwards, transfusion at 15 days interval.Chelation therapyNever taken yet because of no awareness
pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, PakistanSaturday, February 8, 2014 10
Pregnancy: No history of infection, drug intake, trauma or irradiation to mother
Delivery: Birth by uneventful SVD in Private hospital by a doctor
pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, PakistanSaturday, February 8, 2014 11
Breast feeding •Exclusively breast fed for 6 months
Weaning•Started at 7th month•Contained daliya, cerelac, fruits
Current diet•Home made food
pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, PakistanSaturday, February 8, 2014 12
major milestones achieved Smile: 1 monthNeck holding: 3 monthsSitting 7 monthsCrawling: 10 monthsStanding: 1 yearWalking: 15 monthsTalking single word: 1 yearAccurate speech: 1.5 years
“All milestones achieved at normal age”
pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, PakistanSaturday, February 8, 2014 13
• BCG at Birth• penta 1, OPV 1, 06 wks• Penta 2, OPV 2, 10 wks• Penta 3, OPV 3, 14 wks• Measles I 09 months• Measles II 15 months
Immunization status complete
according to EPI schedule.
pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, PakistanSaturday, February 8, 2014 14
Age of mother: 35 yearsAge of father: 40 yearsBoth are confirmed cases of Thalassemia MinorCousin Marriage4 live siblings
1st sibling: M, 9 yrs., known case of Thalassemia Major
2nd sibling: M, 7 yrs, known case of Thalassemia Minor
3rd & 4th: twin F, 2 yrs, known case of Thalassemia Minorpediatric department, Sheikh Zayed Medical
College/Hospital, Rahim Yar Khan, Punjab, PakistanSaturday, February 8, 2014 15
There is no other history of hereditary or infectious disease
Death:1st immediately after birth(cause unknown)
2nd spontaneous abortion at 4th month of gestation
pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, PakistanSaturday, February 8, 2014 16
Education of parents:Mother: Intermediatefather: matriculation
Occupation:father: shopkeeperMonthly Income: 30,000 PKR
House: pukka2 roomslocality: villagesanitary condition: good
Blood is donated by the blood bank of SZH,RYKpediatric department, Sheikh Zayed Medical
College/Hospital, Rahim Yar Khan, Punjab, PakistanSaturday, February 8, 2014 17
water supply: proper and underground Fresh water Good sanitation
pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, PakistanSaturday, February 8, 2014 18
Behavior of Child: positiveHabit and interests: positiveClass twoSchool performance: good
pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, PakistanSaturday, February 8, 2014 19
Pt. received PARACETAMOL for fever in usual dose Pt. also received FURECIMIDE for oliguria
pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, PakistanSaturday, February 8, 2014 20
EXAMINATION,
INVESTIGATIONS AND
MANAGEMENT
MUHAMMAD SALMAN
ROLL NO. 314
FINAL YEAR
21
Examination at the time of admission
6 year old child pale looking having jaundice, not oriented, irritable, drowsy & some dehydrated having vitals
H/R 110/min R/R 24/mintemp 102 FBP 85/60 mm of Hg
22
General physical examination (current)
Abdul Manan, 6 year old boy, average built,
Well cooperative and well oriented in time, place and person lying comfortably in the bed.
No obvious respiratory distress, cyanosis and dysmorphism
Pulse rate: 92/min
Respiratory rate: 18/min
Blood pressure: 100/65 mm of Hg
Temperature: 99 F
Anthropometric measurements
Head circumference: 51cmHeight: 107cm (5th centile)Weight: 17 kg
24
• Pallor • jaundice • Bruises on skin• THALASSEMIC FACIES• clubbing• koilonychias,• leuconychia .• palmer erythema• Lymph node and thyroid are not palpable. • JVP not raised.• Ankle and sacral edema is absent.
POSITIVE
NEGATIVE
25
Orodental hygiene is satisfactory with protrusion of maxillary teeth
ABDOMINAL EXAMINATION INSPECTION abdomen is distended, moving with respiration with no stria,
scar mark, dilated veins. Umbilicus is central and inverted, hernial orifices are intact.
PALPATION there is no tenderness,
liver is palpable 8cm below the Right costal margin in midclavicular line, firm in consistency, sharp edges, upper border is in 5th ICS with a total span of 14.4 cm.
Spleen is also enlarged measuring 10cm below the costal margins , firm in consistency with sharp edges
Kidneys are impalpable bimanually
bladder not distended
GIT 26
•PERCUSSION note is resonant all over except in the region of liver and spleen, where it is dull.
no shifting dullness and fluid thrill
•AUSCULTATION : bowel sounds are audible,
no bruit is audible.
27
CVS
INSPECTION: apex beat is not visible, there are no pulsation, prominent veins or scar
PALPATION: apex beat is palpable in 5th intercostal space medial to mid clavicular line and is of normal character. No other sounds, thrill or left parasternal heave is palpable.
AUSCULTATION: 1st and 2nd heart sounds are of normal character with no added sound
28
CNS Higher mental functions are intact. Speech is normal. Cranial nerves are intact Motor and sensory systems are normal No sign of meningeal irritation are present. Gait is normal
GROSSLY INTACT
29
Respiratory system
There is normal vesicular breathing on auscultation with no added sounds.
30
INVESTIGATIONS
31
Complete Blood Count
Hb: 6.9gm/dl T.L.C: 5500/mm3 Neutophil: 77% Lymphocyte: 18% Eosinophils ; 4% monocytes: 1 % Platelets: 25,000/mm3
32
PERIPHERAL MORPHOLOGY Dimorphic picture ++ Microcytosis ++ Hypochromic, ++ anisocytosis, ++ poikilocytosis, + target cells few Schistiocytosis 1 NRBC/ 100 WBCs Reticulocyte count : 3.8 %
33
Hb electrophoresis
Done at the age of 6 months
Hb F: 98.1 %
Hb A2: 1.9 %
Hb A: 0 %
34
Serum ferritin level: >2000ng/ml (normal-less than 400) Serum LFT’s: Bilirubin=9.5mg/dl
ALT=1261 IU/l
AST=739 IU/l Serum alkaline phosphatase=486U/L Serum albumin = 3 g/dl Serum RFT’s: Blood urea= 203 mg/dl Creatinine= 1.4 mg/dl PT : control 18, APTT : control 39
test 14 test 33
35
Serum electrolyte: Sodium=131mmol/L
Potassium=3.4mmol/L ECG ----- normal Ultrasound of abdomen: hepatospleenomegaly, PV vein size is normal Anti HCV: positive , HbSAg: negative (result for anti HCV by ELISA awaited) Complete urine examination : pus cell 4-6/hpf
albumin +
Blood sugar (random): 90 mg/dl
Thyroid function test T4 1.39ng/dl TSH 4.41µIU/ml
normal
36
Skull X-ray lateral view : thinning of cortex and widening
of dipole bone
37
CXR ------ heart size is normal
38
FINAL DIAGNOSIS
BETA THALLASEMIA MAJOR WITH
complications hepatic encephalopathy (stage II)
Hepatorenal syndrome/ARF
Hyperspleenism
39
TREATMENT GIVEN IN THE HOSPITAL
RIMSHA NAZIRROLL NO.201
FINAL YAER
40
MAINTENANCE OF ABC and monitoring of vitals NG tube and foley catheter passed Hydration I/V antibiotics Lactulose Enema Vit. K Aminoglycoside through NG tube Cimetidine Blood transfusion
41
TREATMENT OUTCOME 07.02.2014
Now pt. is fully conscious, co-operative, oriented in time, space and person with stable vitals.
His current investigations LFTs bilirubin 3.7 mg/dl
ALT 272 IU/L
AST 129 IU/L
Al.phos 326 IU/L CBC Hb. 7.7 g/dl blood transfusion advised RFTs urea 32 mg/dl
Creatinine 0.8mg/dl
42
THALASSEMIA
Dr. ZAHID MEHMOOD
FCPS-II Resident
Pediatric Dept.
SZMC/H, R.Y.K.
INTRODUCTION
BASIC 3 TYPES
•Hb A 2α + 2β
•Hb A2 2α + 2δ
•Hb F 2α + 2γ
1.The α-globin genes are encoded on chromosome 16 ,
2. γ, δ, and β-globin genes are encoded on chromosome 11
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 44
fetal period 1ST TRIMESTER HB F ,2nd trimester Hb A, 3rd trimester Hb A2
At birth appears Hb F 98% gradually decline till 6months
At 6 months Hb A >95%, Hb A2 ≤3.5 %, Hb F <1.5%.
•If synthesis of α chain is suppressed – level of all 3 normal Hb A (2α ,2β), A2 (2α ,2 δ),F(2α ,2γ) are reduced
•If β chain is suppressed - Hb A (2α ,2β), is suppressed
compensatory rise in Hb F & Hb A2PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 45
DEFINITION• Thalassemia syndromes are a heterogeneous group of inherited
anemias characterized by reduced or absent synthesis of either alpha or Beta globin chains.
•One of the most common single gene disorders
ETIOLOGY
• Autosomal recessive
•MutationsPEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 46
CLASSIFICATION OF THALASSEMIAS
•β Thalassemia
• α Thalassemia
• γ Thalassemia
• δ Thalassemia
• δ β Thalassemia
• Hemoglobin Lepore syndrome
• Hb C Thalassemia
• Hb D Thalassemia (Punjab)
• Hb E ThalassemiaPEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 47
Αlpha-THALASSEMIANO. OF GENES PRESENT
GENOTYPE CLINICAL CLASSIFICATION
4 genes αα/αα Normal3 genes αα/- α Silent carrier2 genes - α/- α or
αα/- - α thalassemia trait
1 gene - α/- - Hb H Disease0 genes - -/- - Hb Barts / Hydrops
fetalisPEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 48
ALPHA THALASSEMIA•Highest prevalence in Thailand
• α chains shared by fetal as well as adult life. Hence manifests in both
• These thalassemias don’t have ineffective erythropoiesis because β and γ tetramers are soluble chains and hence not destroyed always
• Silent carrier – not identified hematologically,
•Diagnosed when progeny has Hb Barts/ Hb HPEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 49
BETA THALASSEMIA
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 50
HISTOTY
Dates back over 50,000 year ago in a valley of Italy and Greece now covered by the Mediterranean.
Thalassemia is a Greek word Thalassa which means the sea (Refer to the Mediterranean) emia which means “related to blood”
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 51
EPIDEMIOLOGY
Worldwide ,15million have clinically apparent thalassemic disorders
About 100,000 babies worldwide are born with thalassemia each year.
Globally in 2010 it resulted in about 18,000 deaths
Genetic disorder of hemoglobin are the commonest single gene disorder in Pakistan. PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 52
THALASSEMIA IN PAKISTAN
In Pakistan the disease is seen in almost all the parts of country, with an estimated carrier rate of 5-8% ( About 9.8 million carriers in total population)
Approximately 4000-5000 beta thalassemia children are born each year.
Average life expectancy in Pakistan is 10 years.
At present disease load is around 100,000 patients throughout the country.
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 53
THALASSEMIA IN RAHIM YAR KHAN (SZH)
2013 Total admissions 14433
Thalassemia 1335(9%)
Total thalassemic patients registered in SZH,RYK are 160
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 54
CLASSIFICATION OF Β THALASSEMIA
CLASSIFICATION
GENOTYPE CLINICAL SEVERITY
thal βminor/trait
/ +, β β/ 0β β
Silent
thal βintermedia
+ / +, β β+/ 0β β
Moderate
thal majorβ 0/ 0β β Severe
/β β Normal
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 55
PATHOPHYSIOLOGY
•Since chain synthesis reduced -ẞ
1. gamma 2ץ and delta δ2 chain combines with normally produced α chains ( Hb F (α2 2ץ ) , Hb A2 (α2 δ2) - Increased production of Hb F and Hb A2
2. Relative excess of α chains → α tetramers forms aggregates → precipitate in red cells → inclusion bodies → premature destruction of maturing erythroblasts within the marrow (Ineffective erythropoiesis) or in the periphery (Hemolysis)→ destroyed in spleenPEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN,
PUNJAB, PAKISTAN Saturday, February 8, 2014 56
PATHOPHYSIOLOGY….. continued
Anemia result from lack of adequate Hb A → tissue hypoxia→ ↑EPO production → ↑ erythropoiesis in the marrow and sometimes extramedullary → expansion of medullary cavity of various bones
Liver spleen enlarge → extramedullay hematopoiesisPEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN,
PUNJAB, PAKISTAN Saturday, February 8, 2014 57
IRON OVER LOAD
Causes
•Hemolysis
•Increased hematopoiesis
•Increased absorption from GIT
•Repeated blood transfusion
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 58
ACCUMULATION OF IRON•Deposition in pituitary - endocrine disturbance - short
stature, delayed puberty, poor sec. sexual characteristics•Hemochromatosis - cirrhosis of liver•Cardiomyopathy (cardiac hemosiderosis) -cardiac failure•Deposition in pancreas -diabetes mellitus•Lungs: restrictive lung defects•Adrenal insufficiency•Hypothyroidism, hyperparathyroidism• Increased susceptibity to infections (iron favours bacterial
growth) espc : Ye rs inia infectionsPEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 59
CLINICAL FEATURES
INFANTS:
•Age of presentation: 6-9 mo (Hb F replaced by Hb A)
•Progressive pallor and jaundice
•Cardiac failure
•Fever
•Hepatomegaly
•Splenomegaly PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 60
CLINICAL FEATURES
BY CHILDHOOD:
Severe anemia-cardiac dilatationJaundiceTransfusion dependent Changes in skeletal system Growth retardation
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 61
SKELETAL CHANGESTHALASSEMIC FACIES
Frontal bossing, maxillary hypertrophy, depression of nasal bridge , Malocclusion of teeth
PARAVERTEBRAL MASSES:
• Broadening of ribs at costo-vertebral attachment
• Paraparesis
• PATHOLOGICAL FRACTURES:
• Cortical thinning
• Increased porosity of long bones DELAYED PNEUMATISATION OF SINUSES - sinusitis
PREMATURE FUSION OF EPIPHYSES - Short staturePEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 62
CLINICAL FEATURES (THALASSEMIA INTERMEDIA)
•Moderate pallor, usually maintains Hb >6gm%
• Anemia worsens with pregnancy and infections (erythroid stress)
• Less transfusion dependant
• Skeletal changes present, progressive splenomegaly
•Growth retardation
• Longer survival than Thalassemia majorPEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 63
CLINICAL FEATURES (THALASSEMIA MINOR)
• Usually ASYMPTOMATIC
• Mild pallor, no jaundice• No growth retardation, no skeletal abnormalities, no splenomegaly•MAY PRESENT AS REFRACTORY IRON DEFICIENCY ANEMIA
(Hypochromic microcytic anemia)• Unresponsive/ refractory to Fe therapy• Normal life expectancyPEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 64
DIAGNOSIS
BLOOD PICTURE
•Hb – reduced (3-9mg/dl)
•RBC count – increased
•WBC, platelets – normal,
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 65
PERIPHERAL BLOOD PICTURE
•RBC indices – MCV & MCH,MCHC reduced
•microcytic hypochromic anemia, anisopoikilocytosis, target cells, nucleated RBC, leptocytes, basophilic stippling, tear drop cells
•Cytoplasmic incl bodies in α thal
• Post splenectomy : Howell-Jolly and Heinz bodies
•Reticulocyte count increased (upto 10%) but Relative Reticulocytopenia PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN,
PUNJAB, PAKISTAN Saturday, February 8, 2014 66
•Total. Bilirubin & Indirect. bilirubin – increased
•B.M. study: hyperplastic erythropoiesis
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 67
Hb ELECTROPHORESIS
Beta Thalassemia Major
Hb F: 98 %
Hb A2: 2 %
Hb A: 0 %
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 68
X ray skull:
“ hair on end” appearance
or“crew-cut” appearance
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 69
IRON OVERLOAD ASSESSMENT
•S.Ferritin
•Urinary Fe excretion
•Liver biopsy - standard
•Myocardial-liver MRI indexes
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 70
TREATMENT• Supportive Treatment
•Psychological/ social support
•Blood Transfusion
•Chelation Therapy ( For iron overload)
• Surgical
•Bone marrow transplant
•Newer therapyPEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 71
SUPPORTIVE TREATMENT
•Vitamin C – increases iron excretion
•Restrict Fe intake – decrease meat, liver, spinach
•Folate – 1 mg/day
•Genetic counselling
•Psychological support
•Hormonal therapy – GH, estrogen, testosterone, thyroxinPEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN,
PUNJAB, PAKISTAN Saturday, February 8, 2014 72
PSYCHOLOGICAL/ SOCIAL SUPPORT
• WISH
• BLOOD DONATION
• MORAL SUPPORT
• CHELATION THERAPY
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 73
BLOOD TRANSFUSION
•BT at 4-6 wks interval
Packed RBC, leucocyte-poor•Hb to be maintained – (Hb >10.5 gm/dl)• If regular transfusions and chelation - no hepatomegaly, no
facies•10-15ml/kg RBC raises Hb by 3-5gm/dl –
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 74
CHELATION THERAPY
• ( 1 unit of blood contains 250 mg iron)
•DESFERRIOXAMINE
•DEFERIPRONE
•DEFERASIROX
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 75
BONE MARROW TRANSPLANTATION
• Severely affected child• Minimum transfusions • No iron toxicity • Age usually < 5 years• HLA identical donor (sib)
• Risk factors:
Hepatomegaly >2cm
Portal fibrosis
Iron overload
Older age
• Success rate In low risk young patients, the 5yr thalassemia free survival rate is 73 -94% at National Institute of Blood Disease & Bone Marrow Transplantation, Karach
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 76
SURGICAL TREATMENT - SPLENECTOMY
•Deferred as long as possible. At least till 5-6 yrs age
•Spleenectomy (indications):
•Hyperspleenism (spleenomegaly+mono/bi/pancytopenia)
•Massive splenomegaly causing mechanical discomfort
•Progressively increasing blood transfusion requirements (>180-200 ml/kg/yr) packed RBC
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 77
NEWER THERAPIES
•GENE MANIPULATION AND REPLACEMENT
• Hb F AUGEMENTATION
• Hydroxyurea
• Myelaran
• Butyrate derivatives
•
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 78
PRENATAL DIAGNOSIS
• β/α ratio: <0.025 in fetal blood – Thal. major
•Chorionic villous biopsy at 10-12 wks
• amniocentesis at 15-18th wk gestation Analysis of fetal DNA
• PCR to detect β globin gene
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 79
PREVENTION:
•Preventing marriage b/w traits
•Antenatal diagnosis
•Termination of pregnancy if Thalassemia major
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 80
COMPLICATIONS
•Hypersplenism ------- surgery• Bleeding Diathesis--- FFP•Hemosiderosis ------- chelation therapy•Hepatitis and hepatic encephalopathy• Pathological Fractures •Growth Retardation •Diabetes Mellitus• Failure to attain Puberty•Complications of Repeated Blood Transfusions PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 81
COMPLICATIONS….. continued
• Repeated infections
• Cardiac complications (Anemia , Hemosiderosis)
• Pericarditis
• Arrythmias
• Heart Block • CCF
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 82
MANAGEMENT OF HEPATIC ENCEPHALOPATHY
• MAINTENANCE OF ABC and monitoring of vitals and protein restriction
• NG tube and foley catheter passed
• Gastric lavage if malena or haemetemesis
• I/V antibiotics for infection
• Lactulose to change gut flora
• Enema for constipation
• Hydration
• Vit. K
• Oral Aminoglycoside / Metronidazole
• H2 blocker/ PPI
• Blood transfusion if there is anemiaPEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 83
HEPATORENAL SYNDROME
• Hepatic failure, hypernatremia, hypokalemia, oliguria, deranged RFTs
• Two types
type 1 – acute
type II -- chronic
• Withdrawal of nephrotoxic drugs
• Renal function recovers if hepatic function improves
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 84
WHAT WE CAN DO FOR THIS PATIENT FURTHER• Chelation therapy
• Hb F augmentation
• Spleenectomy and vaccination
• Bone marrow transplantation
• Prevent other complications of thalassemia
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 85
CAUSES OF DEATH IN THALASSEMICS• The most common cause of death in older children was
heart disease(cardiomyopathy)
followed by infection &liver disease.
•While in younger children
infections outnumber the cardiac complications.
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 86
KEY MESSAGE
•Prevention is better than cure
• Better to prevent thalassemia.
• IF not, Better to prevent complications of thalassemia.
• How:
By monitoring patients clinically & by investigations in
order to detect earlier ,so intervention can be done.PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 87
WHAT WE AIM FOR THALASSEMIA
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 88
.
It was like a dream come true for 12-year old Naima Gul, resident of Mingora, Swat, when she became the first female pilot of the Pakistan.
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 89
PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN Saturday, February 8, 2014 90