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Publicação
A complex case of low-phospholipid-associated cholelithiasis syndrome.
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Autores
Orientador(es)
Resumo(s)
The low-phospholipid-associated cholelithiasis (LPAC) syndrome is a form of symptomatic and recurring cholelithiasis occurring in young adults, associated with mutations in the ABCB4 gene. It is a clinical syndrome characterized by at least two of the following criteria: age at onset of biliary symptoms below 40 years, intrahepatic echogenic foci or microlithiasis and recurrence of biliary symptoms after cholecystectomy. In the rare cases progressing to end-stage liver disease, a liver transplant may be indicated. We report a case of a 40-year-old female patient with clinical criteria for LPAC syndrome and with ABCB4 gene mutation. She had a complex history of choledocholithiasis recurrence despite treatment with ursodeoxycholic acid and multiple therapeutic endoscopic retrograde cholangiopancreatography, and she developed portal vein thrombosis.
Descrição
Palavras-chave
Cholelithiasis Phospholipids
Contexto Educativo
Citação
Rev Esp Enferm Dig. 2020 Jun 16;112. [Epub ahead of print]
Editora
Aran Ediciones