Identification of a new, likely pathogenic, heterozygous ABCB4 variant causing low phospholipid-associated cholelithiasis.
Laurence Vaitiekunas, James O'Beirne
✦ AI-curated · Sources linked
Case in brief
A late adolescent boy presented with recurrent biliary symptoms after cholecystectomy, alongside elevated cholestatic liver enzymes and a family history of hepatobiliary disease. Genetic testing identified a novel heterozygous ABCB4 variant (c.833+5G>A), leading to abnormal mRNA splicing and reduced MDR3 protein expression. Treatment with ursodeoxycholic acid resulted in clinical and biochemical remission.
Diagnostic / clinical pearl
Clinicians should consider low phospholipid-associated cholelithiasis in young patients with biliary symptoms and a family history of hepatobiliary disorders, as genetic factors may play a significant role.
Why it matters
This case underscores the need for awareness of genetic causes of cholelithiasis, which can lead to improved diagnosis and management in affected individuals.