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Síndrome de colelitiasis asociada a bajos fosfolípidos

Pierre-Antoine Soret1, Olivier Chazouillères1, Christophe Corpechot1

  • 1Service d'hépatologie, centre de référence des maladies inflammatoires des voies biliaires et des hépatites auto-immunes (MIVB-H), centre de référence européen des maladies rares du foie (Rare-Liver), hôpital Saint-Antoine, AP-HP, Paris, France Sorbonne Université, INSERM, centre de recherche Saint-Antoine (CRSA), Paris, France.

La Revue du praticien
|January 23, 2026
PubMed
Resumen

El síndrome de colelitiasis asociada a bajos fosfolípidos (LPAC) es una afección genética rara. El diagnóstico implica ecografía hepática y el tratamiento generalmente incluye ácido ursodesoxicólico (UDCA).

Palabras clave:
Colelitiasis

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Área de la Ciencia:

  • Hepatología
  • Genética
  • Gastroenterología

Sus antecedentes:

  • El síndrome de colelitiasis asociada a bajos fosfolípidos (LPAC) es un trastorno genético raro.
  • Está relacionado con variantes patogénicas en el gen MDR3 en el 30-50% de los casos.
  • El síndrome LPAC se presenta de manera similar a los cálculos biliares comunes, pero a menudo en adultos jóvenes y con recurrencia después de la cirugía.

Objetivo del estudio:

  • Describir las características del síndrome LPAC.
  • Destacar los métodos de diagnóstico y las opciones de tratamiento para el síndrome LPAC.

Principales métodos:

  • El diagnóstico se basa en la ecografía hepática, que identifica la microlitiasis intrahepática (imágenes de cola de cometa o micropuntos).
  • La presentación clínica, incluido el inicio temprano y la recurrencia poscolecistectomía, ayuda a la sospecha.

Principales resultados:

  • Los hallazgos ecográficos de microlitiasis intrahepática son indicadores diagnósticos clave.
  • El inicio en adultos jóvenes (antes de los 40 años) y los síntomas biliares recurrentes después de la colecistectomía son sugestivos.

Conclusiones:

  • El síndrome LPAC requiere enfoques diagnósticos específicos más allá de la colelitiasis típica.
  • El ácido ursodesoxicólico (UDCA) es el tratamiento principal, con procedimientos endoscópicos para cálculos del conducto biliar común cuando sea necesario.