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Low phospholipid-associated cholelithiasis
A rare genetic hepatic disease characterized by low biliary phospholipid concentration with symptomatic and recurring cholelithiasis which develops before the age of 40 years.
ORPHA:69663Classification level: Disorder
- ABCB4-related cholelithiasis
- Prevalence: Unknown
- Inheritance: Autosomal dominant or Autosomal recessive
- Age of onset: Adult
- ICD-10: K80.8
- OMIM: 600803
- UMLS: C2609268
- MeSH: -
- GARD: -
- MedDRA: 10068936
This syndrome is infrequent and corresponds to a small subgroup of patients with symptomatic gallstone disease.
Patients with LPAC syndrome present typically with the following main features: age less than 40 years at onset of symptoms, recurrence of biliary symptoms after cholecystectomy, intrahepatic hyperechoic foci or sludge or microlithiasis along the biliary tree.
A defect in ABCB4 function causes the production of bile with low phospholipid content, increased lithogenicity and high detergent properties leading to bile duct luminal membrane injuries and resulting in cholestasis with increased serum gamma-glutamyltransferase (GGT) activity.
Intrahepatic gallstones may be detected by ultrasonography (US), computing tomography (CT), abdominal scan or magnetic resonance cholangiopancreatography. Intrahepatic hyperechogenic foci along the biliary tree may be detected by US, and hepatic bile composition (phospholipid content) may be determined by duodenoscopy.
Management and treatment
In all cases where ABCB4 genotyping confirms the diagnosis of LPAC syndrome in young adults, long-term curative or prophylactic therapy with ursodeoxycholic acid (UDCA) should be initiated early to prevent the occurrence or recurrence of the syndrome and its complications. Cholecystectomy is indicated in the case of symptomatic gallstones. Biliary drainage or partial hepatectomy may be indicated in the case of symptomatic intrahepatic bile duct dilatations filled with gallstones. Patients with end-stage liver disease may be candidates for liver transplantation.
A summary on this disease is available in Deutsch (2007) Français (2007) Nederlands (2007) Español (2016) Italiano (2016) Polski ()
Disease review articles
- Review article
- English (2007) - Orphanet J Rare Dis
- Guidance for genetic testing
- Français (2015, pdf) - ANPGM
: produced/endorsed by FSMR(s)