Talks
Presentation Type
Oral Presentation
Discipline Track
Clinical Science
Abstract Type
Case Report
Abstract
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 suffered other five episodes of acute pancreatitis since 20 years old with serum triglycerides between 1,000 and 3,000 mg/dL. Each episode progressed in pain intensity and Balthazar score from A to C. The patient received treatment with bezafibrate and captopril because of hypertension. The physical exam shows eruptive xanthomas on his back, otherwise no other clinical relevant findings. He has a family history of recurrent pancreatitis in his father, and two older sisters (from a total of 3 sisters). This is the first case of FHS presented in RGV.
To our knowledge, only one mutation in lipoprotein lipase had been described in Guanajuato, Mexico (Colima-Fausto 2017). The p.Gly188Glu mutation affects the lipid-binding region, leading to a complete loss of LPL function.
We will research this case to determine if they have a mutation on any of the known genes and if negative, to sequence the regions for seeking new mutation on the U.S.-Mexico border.
The common treatment for lowering triglycerides works small or not at all. Other conditions like hypothyroidism or Cushing were ruled out. A specialized exam is the post-heparin activation of lipoprotein lipase inadequate release of the enzyme.
The dietary treatment includes a very low-fat diet (no more than 20 to 30 g fat/day), and avoiding alcohol. Plasmapheresis is an option for avoiding acute pancreatitis treatment. Recently, tiparvovec was discontinued in Europe (2007), and was the first gene therapy approved. Volanesorsen is another option that reduces triglycerides by 50 to 80%, currently in phase II and III trials.
Academic/Professional Position
Graduate Student
Recommended Citation
Maldonado, Carlos E.; Hector, Carlo; Mendez, Mariana; Munguia-Cisneros, Claudia; Vela, Leonel; and Lopez Alvarenga, Juan Carlos, "Familial chylomicronemia syndrome: A family case report in U.S./Mexico border by CEDIAMET" (2023). Research Symposium. 3.
https://scholarworks.utrgv.edu/somrs/2022/talks/3
Familial chylomicronemia syndrome: A family case report in U.S./Mexico border by CEDIAMET
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 suffered other five episodes of acute pancreatitis since 20 years old with serum triglycerides between 1,000 and 3,000 mg/dL. Each episode progressed in pain intensity and Balthazar score from A to C. The patient received treatment with bezafibrate and captopril because of hypertension. The physical exam shows eruptive xanthomas on his back, otherwise no other clinical relevant findings. He has a family history of recurrent pancreatitis in his father, and two older sisters (from a total of 3 sisters). This is the first case of FHS presented in RGV.
To our knowledge, only one mutation in lipoprotein lipase had been described in Guanajuato, Mexico (Colima-Fausto 2017). The p.Gly188Glu mutation affects the lipid-binding region, leading to a complete loss of LPL function.
We will research this case to determine if they have a mutation on any of the known genes and if negative, to sequence the regions for seeking new mutation on the U.S.-Mexico border.
The common treatment for lowering triglycerides works small or not at all. Other conditions like hypothyroidism or Cushing were ruled out. A specialized exam is the post-heparin activation of lipoprotein lipase inadequate release of the enzyme.
The dietary treatment includes a very low-fat diet (no more than 20 to 30 g fat/day), and avoiding alcohol. Plasmapheresis is an option for avoiding acute pancreatitis treatment. Recently, tiparvovec was discontinued in Europe (2007), and was the first gene therapy approved. Volanesorsen is another option that reduces triglycerides by 50 to 80%, currently in phase II and III trials.