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EASL Clinical Practice Guidelines on genetic cholestatic liver diseases

Genetic cholestatic liver diseases are caused by (often rare) mutations in a multitude of different genes. While these diseases differ in pathobiology, clinical presentation and prognosis, they do have several commonalities due to their cholestatic nature. These Clinical Practice Guidelines (CPGs) offer a general approach to genetic testing and management of cholestatic pruritus, while exploring diagnostic and treatment approaches for a subset of genetic cholestatic liver diseases in depth. An expert panel appointed by the European Association for the Study of the Liver has created recommendations regarding diagnosis and treatment, based on the best evidence currently available in the fields of paediatric and adult hepatology, as well as genetics. The management of these diseases generally takes place in a tertiary referral centre, in order to provide up-to-date approaches and expertise. These CPGs are intended to support hepatologists (for paediatric and adult patients), residents and other healthcare professionals involved in the management of these patients with concrete recommendations based on currently available evidence or, if not available, on expert opinion.

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Role of Endoscopy in Primary Sclerosing Cholangitis

This guideline is an official statement of the European Society of Gastrointestinal Endoscopy (ESGE) and of the European Association for the Study of the Liver (EASL) on primary sclerosing cholangitis. The Grading of Recommendations Assessment, Development and Evaluation (GRADE) system was adopted to define the strength of recommendations and the quality of evidence.

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Primary Biliary Cholangitis EASL Guideline

Primary biliary cholangitis (PBC) is a chronic inflammatory autoimmune cholestatic liver disease, which when untreated will culminate in end-stage biliary cirrhosis. Diagnosis is usually based on the presence of serum liver tests indicative of a cholestatic hepatitis in association with circulating antimitochondrial antibodies. Patient presentation and course can be diverse and risk stratification is important to ensure all patients receive a personalised approach to their care.

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Autoimmune Hepatitis

Autoimmune hepatitis (AIH) was the first liver disease for which an effective therapeutic intervention, corticosteroid treatment, was convincingly demonstrated in controlled clinical trials. However, 50 years later AIH still remains a major diagnostic and therapeutic challenge.  

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Management of Cholestatic Liver Diseases

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In October 2008, EASL proudly published its first CPG on the Management of Chronic Hepatitis B. Eight months later, new subject matter was published in the same series of Clinical Practice Guidelines; this time on the Management of Cholestatic Liver Diseases.

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