Familial primary biliary cirrhosis: Like mother, like daughter?

Abstract

The reasons underlying why autoimmune diseases overwhelmingly affect women more than men are not clear. Nor are the reasons why autoimmune disease is more prevalent in families. This review uses primary biliary cirrhosis (PBC) as a model autoimmune disease to discuss the familial risk, focusing mainly on mother-daughter pairs. PBC is a chronic cholestatic liver disease characterised by an immune-mediated inflammatory destruction of the small intrahepatic bile ducts, with fibrosis progressing to cirrhosis and subsequent liver failure. Epidemiological studies have demonstrated that first degree relatives of PBC patients are at higher risk of developing PBC, as well as other autoimmune diseases. This is especially true for the mothers, daughters and sisters of PBC patients. Multiple case reports have highlighted the complexity of mother-daughter pairs in PBC, and the need for follow-up of these individuals when one member of the pair is diagnosed with PBC. It may be the case that diagnosis in one individual may lead to early diagnosis in the other, even if they are asymptomatic. Early management of PBC may improve the prognosis in these patients. This review will examine the literature surrounding PBC in mothers and daughters. (Acta gastroenterol. beig., 2012, 75, 203-209).