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Low Phospholipid-Associated Cholelithiasis (LPAC)

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Diseases of the Liver and Biliary Tree

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Abstract

Low phospholipid-associated cholelithiasis is a rare genetic disorder, characterized by the followings: (1) Biliary symptoms with onset before the age of 40; (2) Recurrence of symptoms after cholecystectomy; (3) Intrahepatic cholelithiasis or intrahepatic hyperechogenic foci; (4) History of intrahepatic lithiasis in first-degree relatives. The genetic defect consists into a mutation of ABCB4 gene which encodes for multidrug resistance protein 3. As consequence of the altered gene product a reduced concentration of phospholipids is present into bile, leading to an impaired cholesterol solubilization. ABCB4 mutations have been described in up to 50% of cases. Ursodeoxycholic acid is the long-term treatment; cholecystectomy is indicated in the case of symptomatic gallstones. Hepato-biliary malignancy is a very rare event. Patients with end-stage liver disease may be candidates for liver transplantation.

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Authors and Affiliations

  1. Scientific Consultant, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS) Negrar, Verona, Italy

    Annarosa Floreani

  2. Senior Scholar University of Padova, Padova, Italy

    Annarosa Floreani

  3. Reference Center for Inflammatory Biliary Diseases and Autoimmune Hepatitis, Hepatology Department, Saint-Antoine Hospital, Paris, France

    Christophe Corpechot

  4. Assistance Publique–Hôpitaux de Paris (APHP), Paris, France

    Christophe Corpechot

  5. INSERM UMR_S938, Saint-Antoine Research Center, Sorbonne University, Paris, France

    Christophe Corpechot

Authors
  1. Annarosa Floreani
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  2. Christophe Corpechot
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Correspondence to Annarosa Floreani .

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Editors and Affiliations

  1. Scientific Consultant, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS) Negrar, Verona, Italy

    Annarosa Floreani

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Floreani, A., Corpechot, C. (2021). Low Phospholipid-Associated Cholelithiasis (LPAC). In: Floreani, A. (eds) Diseases of the Liver and Biliary Tree. Springer, Cham. https://doi.org/10.1007/978-3-030-65908-0_7

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  • DOI: https://doi.org/10.1007/978-3-030-65908-0_7

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-65907-3

  • Online ISBN: 978-3-030-65908-0

  • eBook Packages: MedicineMedicine (R0)

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