Prevalence < 1/106, more frequent in the Amish population. Autosomal recessive transmission. Disorder of bile acid synthesis. 

A distinction is made between :

-        type 1 [MIM 607 748]: mutation of the TJP2 gene (9q21.11)

-         type 2 [MIM 619 256]: mutation of the SLC10A1 gene (14q24)

-         type 3  [MIM 619 232]: BAAT gene mutation (9q31.1).

Pruritus, steatorrhea with malabsorption of ADEK vitamins, anemia, hepatomegaly, osteomalacia and/or rickets.

Biology: increased unconjugated bile salts.

Liver biopsy: proliferation of bile ducts.

Low risk of fibrosis and cirrhosis. 

Treatment: ADEK vitamins, ursodeoxycholic acid.

Anesthetic implications: 

check coagulation and liver enzymes

References : 

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Updated: May 2025