Low-Phospholipid Associated Cholelithiasis (LPAC) syndrome: A synthetic review

Autor: T. Brunel, P. Goubault, B. Bancel, J.-Y. Mabrut, Agnès Rode, Kayvan Mohkam
Rok vydání: 2019
Předmět:
Cholagogues and Choleretics
Cholangitis
medicine.medical_treatment
Disease
Gallstones
Lithiasis
Gastroenterology
Cholangiocarcinoma
0302 clinical medicine
Cholelithiasis
Pregnancy
Recurrence
Bile
Abscess
Low phospholipid-associated cholelithiasis
Ultrasonography
Liver Cirrhosis
Biliary
Liver Diseases
Ursodeoxycholic Acid
Age Factors
General Medicine
Syndrome
ABCB4
Ursodeoxycholic acid
medicine.anatomical_structure
Codon
Nonsense
030220 oncology & carcinogenesis
Phosphatidylcholines
030211 gastroenterology & hepatology
Female
medicine.drug
Adult
medicine.medical_specialty
ATP Binding Cassette Transporter
Subfamily B
Cholangitis
Sclerosing
Liver Abscess
Diagnosis
Differential
03 medical and health sciences
Internal medicine
medicine
Humans
Cholecystectomy
business.industry
Gallbladder
medicine.disease
Pregnancy Complications
Bile Duct Neoplasms
Mutation
Secondary sclerosing cholangitis
business
Zdroj: Journal of visceral surgery. 156(4)
ISSN: 1878-7886
Popis: Low-Phospholipid Associated Cholelithiasis (LPAC) is a genetic disease responsible for the development of intrahepatic lithiasis. It is associated with a mutation of the ABCB4 gene which codes for protein MDR3, a biliary carrier. As a nosological entity, it is defined by presence of two of the three following criteria: age less than 40 years at onset of biliary symptoms, recurrence of biliary symptoms after cholecystectomy, and intrahepatic hyperechogenic foci detected by ultrasound. While the majority of clinical forms are simple, there also exist complicated forms, involving extended intrahepatic lithiasis and its consequences: lithiasis migration, acute cholangitis, intrahepatic abscess. Chronic evolution can lead to secondary sclerosing cholangitis or secondary biliary cirrhosis. In unusual cases, degeneration into cholangiocarcinoma may occur. Treatment is built around ursodeoxycholic acid, which yields dissolution of biliary calculi. Complicated forms may call for interventional, radiological, endoscopic or surgical treatment. This synthetic review illustrates and summarizes the different aspects of this entity, from simple gallbladder lithiasis to cholangiocarcinoma, as well as secondary biliary cirrhosis requiring liver transplant, on the basis of clinical cases and the iconography of patients treated in our ward.
Databáze: OpenAIRE
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