Wilsons disease and autoimmune liver disease overlap syndrome: a clinical study

ABSTRACT

Background: The coexistence of Wilson’s disease and autoimmune liver disease in a same patient is a rare entity. Combined treatment with steroid and D-penicillamine may be effective. Aim of the study was analyse the clinical, histological, laboratory profile for patients with chronic liver disease with aim of finding the etiology of the disease.Methods: It is an observational study. Common clinical presentations were evaluated. Laboratory investigations done include complete blood count, renal and liver function tests, prothrombin time, viral markers for hepatitis A, B, C and E, USG abdomen and pelvis, portal Doppler studies and upper GI endoscopy. Specific tests include ANA, AMA, ASMA, Anti LKM-1Ab, serum ceruloplasmin and 24hrs urinary copper were done. Liver biopsy was done in selected patients.Results: Commonest clinical presentation was abdominal distension (80%), abdominal pain (30%), pedal edema (60%), splenomegaly (40%) and upper GI bleed (40%). Laboratory investigation revealed anemia (50%), thrombocytopenia (70%), prothrombin time prolongation in (60%), normal liver function in 60%, abnormal liver function in (40%). Autoimmune markers revealed ANA strong positivity in (40%), mild positivity in (60%). AMA, ASMA, Anti-LKM-1 were negative in all cases (100%). Liver biopsy showed features of autoimmune liver disease and Periportal copper deposition in 80% of cases.Conclusions: Coexistence of Wilson’s disease and autoimmune liver disease is a rare entity and medical treatment with steroids and D-penicillamine simultaneously to be started in these patients.