Title : Missed case of wilson's disease
Abstract:
34 year old female with history of alcohol use presented with bilateral lower limb weakness and had macrocytic anemia and elevated LFTs. She had undergone sleeve gastrectomy 2 years ago and with high suspicion of nutritional deficiency she was checked for B12 which turned out to be normal. Further Copper levels were checked due to similar presentation with neurologic symptoms with macrocytic anemia and upon low serum copper levels, supplementation was started. Further MRI spine demonstrated spinal stenosis causing neurologic symptoms which improved following neurosurgery but with copper supplementation patient became coagulopathic with elevated INR, Anemia worsened and LFTs up trended. Anemia was found to be hemolytic on peripheral smear. At the time ceruloplasmin was checked which was low. An argument was made that ceruloplasmin tends to be low in nutritional deficiency as well. However owing to developing hepatitis, gastroenterology was involved . and with hemolytic anemia, low ceruloplasmin and hepatic derangements, Wilson’s disease was suspected. Patient was taken off copper, a week later serum copper excretion was checked which was elevated at 2x the expected amount. By Leipzig’s criterion patient was deemed high risk for Wilsons disease which was further confirmed on demonstration of KF rings on slit lamp exam. Ultimately patient was started on D Penicillamine, Wilson’s disease is often missed but holds an excellent prognosis when treated. Awareness of correct tests to be ordered as the primary work-up and high suspicion in patient with multi system presentation is important to make a diagnosis.
Audience Take Away:
- Wilson disease can be easily missed in the setting of NASH and alcohol use and should be suspected if presenting with hemolytic anemia and neuropsychiatric symptoms
- Wilsons disease is manageable and hence should be looked out for
- No particular test can diagnose the disease and hence a pathway needs to be followed to coe to diagnosis. Serum copper is highly misleading
