Spanish clinical practice guidelines for the diagnosis and management of cholestatic liver diseases in adult and pediatric population: Joint report from AEEH and SEGHNP

Abstract

Cholestatic liver diseases comprise a heterogeneous group of disorders affecting both adult and pediatric population, characterized by alterations in bile formation, secretion, or flow, leading to the accumulation of bile acids and other toxic substances in the liver. In recent years, advances in new pharmacological therapies, the availability of next-generation genetic sequencing techniques, and the development of specific treatments for genetic cholestasis have transformed the diagnostic and therapeutic approach to these conditions. This document, jointly prepared by the "Asociación Española para el Estudio del Hígado" (AEEH) and the "Sociedad Española de Gastroenterología, Hepatología y Nutrición Pediátrica" (SEGHNP), presents a national evidence-based guideline for the diagnosis and management of hepatic cholestasis in Spain. It addresses recommendations for differential diagnosis, diagnostic algorithms, indications for genetic studies, treatment and follow-up criteria in diseases such as primary biliary cholangitis, primary sclerosing cholangitis, genetic cholestasis, intrahepatic cholestasis of pregnancy, and vanishing bile duct syndrome. In addition, recommendations are included for the management of extrahepatic complications, indications for liver transplantation, and special considerations in pregnancy and childhood. The guideline emphasizes the importance of a multidisciplinary approach, the use of non-invasive tools for risk stratification, and the incorporation of new targeted therapies, with the aim of improving the prognosis and quality of life of patients affected by cholestatic liver diseases.

Keywords: Cholestasis; Colangitis biliar primaria; Colangitis esclerosante primaria; Colestasis; Colestasis genética; Genetic cholestasis; Guidelines; Guías; Primary biliary cholangitis; Primary sclerosing cholangitis.