title: Primary biliary cirrhosis--autoimmune hepatitis overlap syndrome associated with dermatomyositis, autoimmune thyroiditis and antiphospholipid syndrome.
abstract: Autoimmune liver diseases may be associated with extrahepatic autoimmune pathology. We report the case of a 52-year old woman who initially presented to the gastroenterology department for extreme fatigue, pale stools, dark urine and pruritus. Laboratory tests showed significant cholestasis and elevation of aminotransferase levels. Immunological tests revealed positive antinuclear (ANA=1:320) and antimitochondrial antibodies (AMA=1:40) with negative anti-smooth muscle and liver kidney microsomal type 1 antibodies. The biopsy was compatible with overlap syndrome type 1. The patient was commenced on immunosuppressive therapy according to standard of care (azathioprine 50mg, ursodeoxycholic acid and prednisone 0.5mg/kg), with moderate biochemical improvement. She subsequently developed proximal symmetrical weakness and cutaneous involvement and was diagnosed with biopsy-proven dermatomyositis. The immunosuppressive regimen was intensified to 150 mg azathioprine. At the three-month follow-up, her symptoms subsided and aminotransferases and muscle enzymes normalized. Upon further investigation the patient was diagnosed with autoimmune thyroiditis and antiphospholipid syndrome. To our knowledge, this is the first case of primary biliary cirrhosis - autoimmune hepatitis overlap syndrome associated with dermatomyositis, autoimmune thyroiditis and antiphospholipid syndrome.
authors.affiliation: Department of Rheumatology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
authors.forename: Cristina
authors.initials: C
authors.lastname: Pamfil
authors.affiliation: Department of Dermatology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania. elisabeta.candrea@umfcluj.ro.
authors.forename: Elisabeta
authors.initials: E
authors.lastname: Candrea
authors.affiliation: Department of Pneumology, Dr. George Trifon City Hospital, Năsăud, Romania.
authors.forename: Emese
authors.initials: E
authors.lastname: Berki
authors.affiliation: Department of Rheumatology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
authors.forename: Horațiu I
authors.initials: HI
authors.lastname: Popov
authors.affiliation: Department of Gastroenterology, Prof. Dr. O. Fodor Regional Institute of Gastroenterology Hepatology Cluj-Napoca, Romania.
authors.forename: Pompilia I
authors.initials: PI
authors.lastname: Radu
authors.affiliation: Department of Rheumatology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
authors.forename: Simona
authors.initials: S
authors.lastname: Rednic
mesh_terms: D016736:Antiphospholipid Syndrome / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000276:immunology; D015415:Biomarkers / Q000097:blood; D001706:Biopsy; D003882:Dermatomyositis / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000276:immunology; D005260:Female; D019693:Hepatitis, Autoimmune / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000276:immunology; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D008105:Liver Cirrhosis, Biliary / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000276:immunology; D008875:Middle Aged; D013577:Syndrome; D013967:Thyroiditis, Autoimmune / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000276:immunology; D016896:Treatment Outcome
chemical_list: D015415:Biomarkers; D007166:Immunosuppressive Agents