PBC causes scarring of liver tissue, confined primarily to the bile duct drainage system.
[3] Antibodies to these specific antigens have been associated with a number of conditions:[4] anti M2, M4, M8, and M9 are associated with primary biliary cholangitis; M2 – autoimmune hepatitis; M1 – syphilis; M3 – drug-induced lupus erythematosus; M6 – drug-induced hepatitis; M7 – cardiomyopathy, myocarditis; M5 – systemic lupus erythematosus and undifferentiated collagenosis, autoimmune haemolytic anaemia.
Antimitochondrial antibodies can also be detected in Sjögren's syndrome, systemic sclerosis, asymptomatic recurrent bacteriuria in women, pulmonary tuberculosis, and leprosy.
A cause of AMA has been postulated to be that xenobiotic-induced and/or oxidative modification of mitochondrial autoantigens is a critical step leading to loss of tolerance.
[6] Around 40.5% of acute liver failure patients were found to have elevated AMA, although a larger proportion (56.9%) had anti-transglutaminase antibodies, usually associated with coeliac disease.