Autoimmune cholangitis in twin sisters

Autoimmune cholangitis is a controversial entity, which is considered either as antimitochondrial antibody (AMA) negative primary biliary cirrhosis (PBC), or a variant in a spectrum of autoimmune liver diseases (PBC, Autoimmune Hepatitis, Primary Sclerosing Cholangitis), or even an autonomous entity (1-3). In our department, we have had the rare opportunity to confirm the concordance of autoimmune cholangitis in a pair of monozygotic twin sisters and to follow the very similar disease manifestation and subsequent course. They had been living in the same geographic region all their lives, having the same occupation (housewives) and very close social contact. The past medical history was unremarkable and negative for alco- hol or tobacco consumption. The age at diagnosis, inves- tigating fatigue and mild itching, was similar (57 years old in the first, 58 in the second) and the biochemical (raised alkaline phosphatase, ALT and low platelets) as well as the auto antibody profiles (positive ANA 1/160, weakly positive SMA 1/40, negative AMA, negative M2) were identical. The viral markers were negative in both patients and the iron studies, ceruloplasmin, a1- antithrypsin were within the normal range. Liver histol- ogy was alike in both sisters, characterised by predomi- nantly portal inflammation, bile duct damage and devel- opment of significant fibrosis, compatible with autoim- mune cholangitis stage III/IV. The disease course of the twin sisters was strikingly similar, characterised by decompensated liver disease approximately 3 years after the initial diagnosis, with multiple variceal haemor- rhages and endoscopic sclerotherapy courses at that time. Liver transplantation was not a possible option for them because of socioeconomical limitations.