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.

Inflammatory myopathy associated with anti-mitochondrial antibodies: A distinct phenotype with cardiac involvement

“…AMA-associated myositis is not a well-recognized clinical entity. However, there is a growing literature supporting such an association, with at least 24 case reports to date found in English [15–32]. A majority of these cases emerge from East Asia, and a recent comprehensive study from Japan comprising 212 patients with myositis reported a prevalence of 11.3% of AMA-associated myositis in their cohort[33].…”

Idiopathic inflammatory myopathies with anti-mitochondrial antibodies: Clinical features and treatment outcomes in a Chinese cohort

“…Indeed, we found that the clinical features in patients with AMAs showed great variability. Firstly, although AMAs only occurred in adult IIM patients, the age at onset ranged from 23 years to 86 years and the mean age at onset ranged from the fourth decade to the seventh decade [3][4][5]7,8,[20][21][22][23][24][25][26] . Besides, the average disease duration varied from 10 months (in our study) to 6.5 years, and the prevalence of chronic disease duration varied from approximately 30% (in our study) to 85% [3,5,6] .…”

Extrahepatic Autoimmune Diseases in Patients with Autoimmune Liver Diseases: A Phenomenon Neglected by Gastroenterologists

“…Watt et al [ 1 ] reported that 84 of 160 (53%) PBC patients had at least one additional extrahepatic autoimmune condition, and 16 of 37 (43%) patients developed thyroid diseases prior to the detection of PBC, while 19 of 37 (51%) patients detected thyroid diseases at the same time or following the diagnosis of PBC; 10 of 12 (83%) patients developed sclerosis symptoms prior to the detection of PBC. Another report also showed that the onset time of AIH and dermatomyositis (DM) was uneven [ 2 ]. While explanations for the discrepancies in incidence and onset time are lacking, different geographical and genetic backgrounds in studies may be involved.…”