Case scenarios in wilson disease by Dr Aabha Nagral


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Case scenarios in wilson disease by Dr Aabha Nagral

  1. 1. Case scenarios in Wilson disease Aabha Nagral Pramod Mistry, Ashish Bavdekar, Pettarusp Wadia
  2. 2. 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
  3. 3. 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)
  4. 4. • 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
  5. 5. 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
  6. 6. 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
  7. 7. MANGANESE DEPOSITION IN LIVER FAILURE Hyperintensity in globus pallidi on T1W images, Changes usually not present on T2W images
  8. 8. WILSONS DISEASEN T2 WEIGHTED IMAGESSignal abnormalities in pons ,midbrain,basal ganglia and thalami
  9. 9. WILSONS DISEASEN T2 WEIGHTED IMAGESSignal abnormalities in pons ,midbrain,basal ganglia and thalami
  10. 10. DiagnosisPSC with autoimmune features ? Overlapsyndrome
  11. 11. 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
  12. 12. 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
  13. 13. KF rings on slit lamp
  14. 14. • 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
  15. 15. 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?
  16. 16. • 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
  17. 17. 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
  18. 18. What next?• Rechallenge with d-penicllamine• Zinc• Trientene
  19. 19. 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
  20. 20. • 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)
  21. 21. • 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
  22. 22. 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
  23. 23. • Neurologically could not swallow – PEG tube feeding,• could not speak• Handwriting was not legible• Rigidity worse, close to getting contractures
  24. 24. • What additional medications/procedures for neurological symptoms?• Role of tetrathiomolybdate?• Is the patient a candidate for liver transplantation?• Will neurology improve?
  25. 25. 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
  26. 26. 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
  27. 27. 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
  28. 28. 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
  29. 29. How does one monitor on treatment?• Urine copper• Complete blood count• Urine protein• Urine zinc• Free copper- serum copper – 3 (serum ceruloplasmin)
  30. 30. Thank you