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Case scenarios in wilson disease by Dr Aabha Nagral
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Case scenarios in wilson disease by Dr Aabha Nagral






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Case scenarios in wilson disease by Dr Aabha Nagral Case scenarios in wilson disease by Dr Aabha Nagral Presentation Transcript

  • Case scenarios in Wilson disease Aabha Nagral Pramod Mistry, Ashish Bavdekar, Pettarusp Wadia
  • Case 1• 16 year old boy, BMI 28, presented with oedema feet and abdominal distension• Born of a non consanguineous marriage• On examination, has oedema feet, mild icterus and moderate ascites, mild tremors and mask like facies, gait is slow
  • Investigations Liver profile• serum albumin of 2.6g/dl, globulin 4.5 g/dl• s.bilirubin of 3mg/dl• INR of 2.2• AST 210, ALT 140 IU/L• alkaline phosphatase of 780 IU/L (upto130),• GGT 220 (upto 85)
  • • Hb of 10.1 g/dl, WBC of 4800/cmm, platelet count of 1,00,000/cmm• Lipid profile – normal• Blood sugars – normal• USG abdomen: liver cirrhosis with 15 cm splenomegaly and collaterals with ascites• Ascites – high SAAG ascites with 200 cell count• small esophageal varices on upper GI scopy
  • Is this Wilson disease ?• Hep B, C, ANA 1:40 1+ , other autoimmune markers negative• Serum ceruloplasmin 15 mg/dl (20-60)• 24 hr urine copper pre 75 and post d-penicillamine 340 mcg in 24 hrs• No KF ring• Liver HP: macrovescicular fat, cholestasis and mild interface hepatitis,lymphocytic infiltrate copper stain positive)• Liver copper estimation 210 mcg/gm dry wt of liver
  • Diagnosed as Wilson disease…• Started on d-penicillamine• Started on low dose 250 mg twice a day• Had episodes of recurrent hepatic encephalopathy grade 2, not always with a precipitating factor• No significant response in liver function
  • MANGANESE DEPOSITION IN LIVER FAILURE Hyperintensity in globus pallidi on T1W images, Changes usually not present on T2W images
  • WILSONS DISEASEN T2 WEIGHTED IMAGESSignal abnormalities in pons ,midbrain,basal ganglia and thalami
  • WILSONS DISEASEN T2 WEIGHTED IMAGESSignal abnormalities in pons ,midbrain,basal ganglia and thalami
  • DiagnosisPSC with autoimmune features ? Overlapsyndrome
  • Diagnosis of Wilson diseaseKF ringsSerum ceruloplasminSerum copper24 hr urinary copperPost Pencillamine challenge 24 hr urinary copperLiver copper stain and quantificationMRI brainNO SINGLE TEST CAN BE CONSIDERED A GOLDSTANDARD FOR DIAGNOSIS
  • Case 2• 8 year old boy AM• Born of a third degree consanguineous marriage marriage with history of distension of abdomen, oedema feet, melena• Has had a sib dying of liver failure at age of 7 years ... No diagnosis reached• He is investigated..• Low ceruloplasmin of 4 mg/dl, Hb 10 g/dl, WBC 4000/cmm, plat 75,000/cmm
  • KF rings on slit lamp
  • • USG suggestive of cirrhosis and 14cm large spleen with collaterals s/o portal hypertension• Gastroscopy – large esophageal varices which were banded• Started on salt restriction, diuretics, supportive treatment
  • What is the specific drug of choice for Wilson disease?• D-penicillamine *• Zinc• Trinetene• Zinc + d-penicillamine• How would you approach a patient with low platelets secondary to hypersplenism?
  • • Liver function improved• Platelet counts improved• Went off diuretics• Came back after 15 days with fever……• Had fever and cough and was given drugs by the family practitioner
  • Follow up• Treated with steroids• Recovered• Put on zinc therapy in the interim• Liver function worsened .. Redeveloped ascites and an episode of spontaneous bacterial peritonitis
  • What next?• Rechallenge with d-penicllamine• Zinc• Trientene
  • Case 3• 38 year old man presented with tremors, drooling of saliva, rigidity, slurring of speech• Works as a writer in the high court where main work involves writing• Handwriting has changed and illegible
  • • Also, distension of abdomen, oedema feet and one episode of variceal bleed for which he underwent band ligation• Investigations reveal Child C cirrhosis with portal hypertension• Low ceruloplasmin of 6 mg/dl and KF rings present• Diagnosis of Wilson disease with liver and neurological involvement (Child C and MELD 17)
  • • Started on d-penicillamine (250 mg) 2-2 and within 15 days, neurological symptoms significantly worsened• Unable to get from bed, stopped talking and unable to swallow
  • What next?• Stop d-penicillamine or reduce it• Substitute another drug – zinc, trientene• Started on trientene 250 mg twice a day• Liver function improved marginally
  • • Neurologically could not swallow – PEG tube feeding,• could not speak• Handwriting was not legible• Rigidity worse, close to getting contractures
  • • What additional medications/procedures for neurological symptoms?• Role of tetrathiomolybdate?• Is the patient a candidate for liver transplantation?• Will neurology improve?
  • Case 4• 2 year asymptomatic girl child born of a second degree consanguineous marriage• 2 brothers dying at the age of 7 yrs one after the other of jaundice, abdominal distension and unconsciousness• The mother has had a tubal ligation and this girl is the only surviving child for the family
  • Questions asked by the family• Is this child doomed to have a similar fate as her brothers• Can this child be treated if diagnosed to have a similar problem as her brothers• Can the mother have a reversal of her tubal ligation and hope to bear a normal child
  • Investigations• Serum ceruloplasmin 12 mg/dl• LFT normal except for AST 76 and ALT 66 IU/l• 24 hr urine copper pre and post d- penicillamine 140 and 1200 mcg in 24 hrs• No KF ring• Liver dry copper estimation 625 mcg
  • How will we diagnose Wilson disease in this child?• Initially treated with d-penicillamine and once her 24 hr urine copper reduced to less than 500, was switched over to zinc acetate• Has been on treatment for 8 years
  • How does one monitor on treatment?• Urine copper• Complete blood count• Urine protein• Urine zinc• Free copper- serum copper – 3 (serum ceruloplasmin)
  • Thank you