[Autoimmune and genetic-cholestatic liver diseases: the new guidelines]

Autoimmune liver diseases are rare, but among rare diseases they are relatively frequent. Autoimmune hepatitis (AIH) is a very heterogeneously presenting disease and lacks specific diagnostic tests. Unfortunately, steroid-free treatment can be achieved for only a minority of patients in real-life settings. Treatment algorithms provided by clinical practice guidelines help to reduce the rate of side effects and to increase the response rate. Diagnosis and first-line treatment of primary biliary cholangitis (PBC) is easier than in AIH. The challenges of PBC are to identify patients at risk for disease progression and to offer the most effective and safest second-line treatment for the individual patient. Treatment options for primary sclerosing cholangitis (PSC) are very limited. Therefore, the clinical focus should be on identification of patients at risk for the need of liver transplant and on screening for malignant complications such as cholangiocarcinoma or colorectal carcinoma in case of associated colitis. Genetic cholestatic liver diseases (GCD) are rare monogenetic disorders presenting in early infancy to later in life and are associated with significant morbidity. Cholestatic pruritus is a hallmark symptom in most GCD significantly impacting of quality of life and requiring surgical or pharmacologic intervention or even liver transplant. Selective inhibitors of ileal bile acid transport (IBAT) have been introduced as novel treatment option interrupting enterohepatic circulation of bile acids. Aside from their proven effect on pruritus, it remains unclear whether chronic liver damage by bile acid toxicity may also be reduced. Besides the risk for development of biliary cirrhosis, an elevated risk for hepatobiliary malignoma is present in GCD, and patients need lifelong tumor surveillance. The often multisystemic nature of GCD requires highly specialized multidisciplinary treatment in dedicated centers and careful transition to adult medicine is warranted.