Published: 2019-01-25

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

Ramasubramanian R., Jaipaul Y., Poppy Rejoice, Shafique A., Heber Anandan


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.


Autoimmune liver disease, Overlap, Wilson’s disease

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Trivedi PJ, Hirschfield GM. overlap syndromes and autoimmune liver disease. Alimentary Pharmacol Ther. 2012 Sep;36(6):517-33.

Dara N, Imanzadeh F, Sayyari AA, Nasri P, Hosseini AH. Simultaneous presentation of Wilson’s disease and autoimmune hepatitis; a case report and review of literature. Hepatitis monthly. 2015 Jun;15(6).

Yener S, Akarsu M, Karacanci C, Sengul B, Topalak O, Biberoglu K, et al. Wilson's disease with coexisting autoimmune hepatitis. J Gastroenterol Hepatol. 2004;19(1):114-6.

Milkiewicz P, Saksena S, Hubscher SG, Elias E. Wilson's disease with superimposed autoimmune features: report of two cases and review. J Gastroenterol Hepatol. 2000;15(5):570-4.

Deutsch M, Emmanuel T, Koskinas J. Autoimmune hepatitis or Wilson's Disease, a clinical dilemma. Hepat Mon. 2013;13(5):e7872.

Santos RG, Alissa F, Reyes J, Teot L, Ameen N. Fulminant hepatic failure: Wilson's disease or autoimmune hepatitis? Implications for transplantation. Pediatr Transplant. 2005;9(1):112-6.

Wozniak M, Socha P. Two cases of Wilson disease diagnosed as autoimmune hepatitis. Przegl Epidemiol. 2002;56 Suppl 5:22-5.

Yeoman AD, Westbrook RH, Al‐Chalabi T, Carey I, Heaton ND, Portmann BC, et al. Diagnostic value and utility of the simplified International Autoimmune Hepatitis Group (IAIHG) criteria in acute and chronic liver disease. Hepatology. 2009;50:538-45.

Boberg KM, Lohse AW, Hennes EM, Dienes HP, Heathcote JE, Chapman RW, et al. Assessment of 479 patients with autoimmune liver diseases according to the AIHG scoring system for autoimmune hepatitis does not support the contention of overlap syndromes as separate diagnostic entities. Hepatology. 2009;50:1009A.

Papamichalis PA, Zachou K, Koukoulis GK, Veloni A, Karacosta EG, Kypri L, et al. The revised international autoimmune hepatitis score in chronic liver iseases including autoimmune hepatitis/overlap syndromes and autoimmune hepatitis with concurrent other liver disorders. J Autoimmune Dis. 2007;4(1):3.