A Hematologic Masquerader: Progressive Familial Intrahepatic Cholestasis Type 3 Presenting as Anemia, Hepatosplenomegaly, and Recurrent Bleeding in a Child

Description

Njood Alwadei reports a 2026 case of a liver disease that first looked like a blood disease in a child. The disease is progressive familial intrahepatic cholestasis type three, a rare inherited liver illness. It stems from faults in the ABCB4 gene and often shows later in childhood. Cholestasis means bile flow from the liver is blocked or slowed. Their patient was a four year old girl.

She came in with anemia, a large liver and spleen, and repeat bleeding. First checks chased blood causes. Scans then showed high pressure in the liver veins with swollen veins in the food pipe. Gene tests found two copies of a harmful ABCB4 change, which proved the liver diagnosis. The case warns that long liver disease can mask as blood disease, and early liver checks can prevent grave bleeds.

Catalog record

Source: https://europepmc.org/article/MED/PMC13279669