Colangioids to Define the Genetic Factors Involved in Atypical Primary Sclerosing Cholangitis

Primary sclerosing cholangitis (PSC) is a rare, progressive and often fatal disease of the intrahepatic or extrahepatic bile ducts, with an estimated prevalence in Western countries of 1/10,000. Biliary disease in PSC is represented by cholestasis, chronic inflammation of the bile ducts, the small tubes through which bile passes, progressive concentric fibrosis around the bile ducts2. This results in an obstruction to the passage of bile, which can lead to the development of cirrhosis with complications related to portal hypertension, cholangitis and often progress to bile duct cancer (cholangiocarcinoma). The only curative therapy in patients with PSC is liver transplantation, since no drug has been shown to be effective in preventing disease progression. The etiology is most likely multifactorial immune-mediated, where the onset of PSC is triggered by environmental factors in a genetically susceptible host2Genome-wide association studies (GWAS) have identified variations at the human leukocyte antigen (HLA) complex on chromosome 6 and several other loci, but these explain only a small part of the heritability of PSC. In most cases, PSC occurs in men in their 30s and 40s who have inflammatory bowel disease (IBD) suggesting a key role of altered intestinal permeability and inflammation. However, approximately 30% of patients do not present colonic inflammation, which is consistent with the heterogeneity of the disease. Preliminary data obtained in our laboratory analyzing a c…

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Luca Vittorio Carlo Valenti, Doctor  ·  02 5503 6595  ·  luca.valenti@policlinico.mi.it

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