Dr. Álvaro Díaz-González, attending physician in the Digestive Diseases Department at Marqués de Valdecilla University Hospital and researcher in the Clinical and Translational Research Group on Digestive Diseases at the Valdecilla Research Institute (IDIVAL), is the first author of the new “Clinical Practice Guidelines for the Diagnosis and Treatment of Cholestatic Liver Diseases in Adult and Pediatric Populations”, recently published in the journal Gastroenterología y Hepatología (https://pubmed.ncbi.nlm.nih.gov/41232665/).
These guidelines are a joint initiative of the Spanish Association for the Study of the Liver (AEEH) and the Spanish Society of Pediatric Gastroenterology, Hepatology and Nutrition (SEGHNP). The project, coordinated by Dr. María-Carlota Londoño (Hospital Clínic of Barcelona) with Dr. Díaz-González as the first signatory of the document, involved more than 30 experts from across the country. This represents a significant milestone, as it is the first document at the international level to address the management of the different types of cholestatic diseases, all of which are classified as rare or ultra-rare conditions.
Main innovations and contributions
This document constitutes the first national clinical practice guideline to address, in a comprehensive and cross-sectional manner, the full spectrum of cholestatic diseases in both adult and pediatric populations. The text brings together the most recent evidence to standardize the diagnosis and treatment of cholestatic conditions such as Primary Biliary Cholangitis (PBC) and Primary Sclerosing Cholangitis (PSC), as well as highly complex clinical scenarios including vanishing bile duct syndrome, intrahepatic cholestasis of pregnancy, and—most notably—genetic cholestatic disorders. In doing so, it provides a unique, multidisciplinary framework for clinical practice in Spain.
Among the most relevant updates, the guideline incorporates diagnostic algorithms for the early identification of genetic defects (PFIC and new variants), defines the positioning of emerging pharmacological therapies—such as new PPAR agonists for PBC and ileal bile acid transport (IBAT) inhibitors for the management of pruritus—and establishes updated risk stratification criteria for PSC and PBC.
Consolidation of IDIVAL in rare liver diseases
For IDIVAL and Marqués de Valdecilla University Hospital, the publication of this document represents the consolidation of a research line focused on rare liver diseases. In addition, over the past year, members of this research line have joined the most relevant international collaborative networks, including the European Reference Network on Rare Liver Diseases (ERN RARE-Liver), the Global PBC Study Group, and the International Autoimmune Hepatitis Group (IAIHG).
However, the main value of these guidelines lies in their direct translation into clinical care. Given that these are rare or ultra-rare diseases, there has historically been considerable variability in their clinical management. This new consensus will make it possible to harmonize diagnostic and therapeutic criteria throughout the country, promoting equity in access to treatments and improving patients’ quality of life, as they will benefit from unified standards of care based on the best available scientific evidence.
