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Familial Chylomicronemia Syndrome: A Family Case Report In U.S./Mexico Border By Cediamet, Carlos E. Maldonado, Carlo Hector, Mariana Mendez, Claudia Munguia-Cisneros, Leonel Vela, Juan Carlos Lopez Alvarenga

Research Symposium

Primary familiar hyperchylomicronemia syndrome (FHS) is an extremely rare autosomal recessive condition. In 80% of cases is a result of a mutation in lipoprotein lipase, meanwhile, the 20% is a malfunctioning enzyme due to APOC2, APOA5, LMF1, or GP1HBP1. It is estimated FHS affects 3000 to 5000 individuals globally, with no correlation by sex or race. We are presenting a family with FHS in Reynosa, Mexico.

The index patient was a male 36 years old who attended the CEDIAMET clinic after his 6th episode of acute pancreatitis. He has triglycerides 1300 mg/dl and CT scan with Balthazar C score. He …