From the Journals

Case study suggests maternal inheritance of PBC susceptibility


 

FROM THE WORLD JOURNAL OF GASTROENTEROLOGY

 

A case report involving a family with four sisters with primary biliary cholangitis (PBC) suggests that there may be a maternal inheritance of susceptibility, according to Saeam Shin, MD, and associates at Hallym University in Seoul, South Korea.

In the first case, a 56-year-old woman was diagnosed with PBC, and afterwards, her three sisters, her brother, and her half-sister born to a different mother were evaluated for PBC as well. The second and fourth sisters showed no symptoms, but they were antimitochondrial-antibody (AMA) positive and were diagnosed with PBC. The third sister had been admitted to a different hospital for acute hepatitis of unknown origin – after receiving a positive AMA test, she also was diagnosed with PBC.

The brother and half-sister evaluated for PBC showed no symptoms and had negative AMA tests. The four sisters diagnosed showed good response to ursodeoxycholic acid in liver biochemistry tests and have continued on that medication without complication.

“If one patient is diagnosed with PBC, screening with AMA and liver function tests should be recommended to other family members for the early detection and management of this condition, especially for female relatives,” the investigators wrote.

Find the full case report in the World Journal of Gastroenterology (doi: 10.3748/wjg.v23.i39.7191).

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