vonwillebrand disease type 1 case

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CASE HISTORY BY DR. SIDDQUE AKBAR SATTI MBBS,FCPS CONSULTANT PHYSICIAN CAPITAL HOSPITAL ISLAMABAD PAKISTAN

description

clotting disorder

Transcript of vonwillebrand disease type 1 case

Page 1: vonwillebrand disease type 1    case

CASE HISTORY

BY

DR. SIDDQUE AKBAR SATTI

MBBS,FCPSCONSULTANT PHYSICIAN

CAPITAL HOSPITAL ISLAMABAD

PAKISTAN

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CASE PRESENTATION

Demographic Details

Mr. XYZ , 38yr old Male, Dental technician, Resident of

Rawalpindi, is admitted through E.R on 10- 12 -2012.

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PRESENTING COMPLAINTS;-

Black colored stools......20 days

Shortness of breath ,,,,,,,5 days

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HISTORY OF PRESENT ILLNESS;-

Patient was in usual state of health when he

started suffering from passing black colored stools of

soft consistency ,with frequency 1-2 times per day. There

was no history of haematemesis or fresh blood in stools.

There is also history of continuous NSAIDS use a month

before. No history of pain epigastrum ,heart burn ,nausea

or dyspepsia like feeling. Later on with the passage of

time patient start suffering from easy fatigability even

after milder exertion and also shortness of breath

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on exertion which was of gradual onset ,progressive and

increased to such extent at time of presentation that

patient cant walk for 10 steps without rest. During this

period and also for about last 2 months he was also

suffering from small mucosal bleed from gums, that had

also increased in amount and frequency at time of

presentation. No other history of bruising of the skin nor

history of bleeding from other site.

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PAST MEDICAL HISTORY;-

Not significant

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PAST SURGICAL HISTORY;-

No history of any surgical procedure

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FAMILY HISTORY;-

Patient has 2 brothers and 2 sisters

Father is diabetic and hypertensive

Mother was also diabetic and died of sudden

cardiac arrest

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SOCIOECONOMIC HISTORY;-

Lab technician by profession with monthly

income of about 30,000 a month

lives in well lighted an ventilated home

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PERSONAL HISTORY;-

Cigarette smoker.

No history of addiction to any drug or alcohol

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Drug history

History of transfusion of whole blood for Anemia one

month back

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SYSTEMIC INQUIRY

NAD

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EXAMINATION

GPE

A young man lying comfortably in his bed, well oriented in

time , place and person.

VITALS:

Pulse : 90bpm, regular

BP : 130/70mmHg

Temp : 98.6 oF

RR : 16/min

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Jaundice: -ve

Cyanosis: -ve

Koilonychia: -ve

Clubbing: -ve

Leuconychia: -ve

Ankle edema: -ve

Thyroid: Not enlarged

Lymhnodes Not palpable

CONT…(GENERAL PHYSICAL EXAMINATION)

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Pallor: +ve

Bruises on Right thigh

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CVS:- (Unremarkable)

CNS:- (Unremarkable)

GIT:- (Unremarkable)

RESPIRATORY SYSTEM:-

(Unremarkable)

SYSTEMIC EXAMINATIONS

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D/D:-1. CLD

2. GASTRITIS

3.Coagulation disorder

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INVESTIGATIONS CBC;-

Hb...............3.8 g/dl

TLC.............9400/cmm

RBCs............1.99 million /cmm

Hct................14%

MCV.............70.4 fl (77-96 fl)

MCH.............19.1 pg (26-32 pg)

MCHC...........27.1 gm/dl (32-36 gm/dl)

Platelets............480,000/cmm

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PT;-

PT....................15 sec

Control............13 sec

INR.................1.20

APTT;-

APPT....................65 sec

Control............ 33 sec

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BT.......................>15 min (Normal 2-11 min)

CT.......................05 min 13 sec (Normal 4-11min)

Hess test..............Negative

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STOOL FOR OCCULT BLOOD ...........

Positive

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Hepatic profile

S.Bilirubin...........0.7mg/dl

ALT....................38 U/L

GGT....................33 U/L

ALP ....................139U/L

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HBsAg.......................Negative

HCV antibody............Positive

HCV PCR Qualitative.......Detected

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USG ABDOMEN;-

Fatty liver

No evidence of CLD & Portal

hypertension

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H.PYLORI ANTIBODY;-

IgM.....................Non reactive

IgG.....................Reactive

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UPPER GI ENDOSCOPY;-

Esophagus normal

Multiple erosions at pre pyloric ,fundus,and lesser

curvature of stomach.

Small ulcler at anterior wall of 1st part of duodenum

and multiple duodenal erosions

Oozing of Blood ++

No oesophageal varices

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VON WILLEBRAND AG FACTOR;-

.................7.9% (normal range 50-160)

Results are suggestive of type 1 von willebrand disease

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Solubility test for factor X111.............Negative

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TC-RBC LABELED STUDY FOR GI

BLEED;-

Scan appearance is suggestive of active bleeding from

stomache and proximal duodenum,moving through the

small intestine.

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FINAL DIAGNOSIS

After investigations diagnosis

of vonwillebrand

disease type 1 was made.

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TREATMENT

Inf. Esomeprazole 40mg ................ I/V BD

Inj Transamic acid 500mg................ I/V TDS

Transfusion of Red cell concetrate........ 40 pints

Transfusion of cryoprecipitates ……… 126 pints

H.Pylori eradication therapy

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Humate P (Anti hemophilic Factor/von

Willebrand Factor Complex)

Loading dose of 40-75 units/kg IV, then 40-60

units/kg q8-12hr for 3 d.

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Endoscopic APC(Argon Plasma Coagulation) was done

and bleeding was stopped .

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Thank u