Primary Biliary Cirrhosis - Autoimmune Hepatitis Overlap Syndrome Associated with Dermatomyositis, Autoimmune Thyroiditis and Antiphospholipid Syndrome

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Cristina Pamfil1, Elisabeta Candrea2, Emese Berki3, Horatiu I. Popov1, Pompilia I. Radu4, Simona Rednic1

1) Department of Rheumatology,
2) Department of Dermatology, Iuliu Hatieganu University of Medicine and Pharmacy
3) Department of Pneumology, Dr. George Trifon City Hospital, Năsăud
4) Department of Gastroenterology, Prof. Dr. O. Fodor Regional Institute of Gastroenterology Hepatology Cluj-Napoca, Romania


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.

Key words:
autoimmune hepatitis - primary biliary cirrhosis - inflammatory myopathies - autoimmune thyroid disease - antiphospholipid syndrome.