Prevalence varies between 2 and 40/100,000, with a male preponderance (sex ratio approx. 2:1). The primary form is a disease of multifactorial origin, linked to an abnormal immune response to an as yet unidentified environmental stimulus. Genetic susceptibility factors are known, such as genetic variants in the HLA region of chromosome 6. It is an inflammatory process in the intra- and extra-hepatic bile ducts. It is frequently associated with an inflammatory disease of the digestive tract, principally ulcerative colitis (60-80 % of cases in Europe).

Secondary forms also exist:

-        prolonged biliary obstruction: lithiasis, cystic fibrosis, bile duct ligation

-        recurrent cholangitis: biliodigestive anastomosis

-        biliary ischemia: post-hepatic transplantation, after chemoembolization, after prolonged shock, in certain thrombogenic diseases (vasculitis)

-        severe immune deficiency: HIV, Hyper IGM, X-linked immune deficiency

-        systemic disease: hystiocytosis, sarcoidosis, systemic mastocytosis, hypereosinophilic syndrome.

Clinical presentation:

-        initially: fever, fatigue, pruritus, malaise, abdominal pain and weight loss, but about 40-50 % of patients may be asymptomatic at diagnosis.

-        jaundice, hepatomegaly, splenomegaly, portal hypertension

-        variable course, generally variable, slowly progressive, leading to liver cirrhosis and liver failure,

-        slightly higher incidence of other autoimmune diseases such as autoimmune hepatitis, thyroid disease, type 1 diabetes mellitus and celiac disease.

-        sometimes: cholangiocarcinoma.

Treatment:

-        immunosuppression and bile salt chelators

-        ADEK vitamins

-        liver transplantation (risk of recurrence: 10-30 %).

Note: not to be confused with primary biliary cirrhosis, which affects only the intrahepatic bile ducts and most often affects women between 40 and 50 years of age [MIM 109 720, 613 007, 613 008, 614 220 and 614 221].

Anesthetic implications:

check liver function, portal hypertension, immunosuppression

References : 

-        Gilbert-Kawai N, Hogan B, Milan Z.
Perioperative management of patients with liver disease.
BJA Education 2022 ; 22: 111e117

Updated: March 2025