1. Challenges in familial chylomicronemia syndrome diagnosis and management across latin american countries: an expert panel discussion
- Author
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Raul D. Santos, Alberto Lorenzatti, Pablo Corral, Juan Patricio Nogueira, Alberto M. Cafferata, Daniel Aimone, Charles M. Lourenço, Maria Cristina Izar, Josivan G. Lima, Ana Maria Lottenberg, Rodrigo Alonso, Karla Garay, Alvaro Ruiz Morales, Hernando Vargas-Uricoechea, Christian A. Colón Peña, Alejandro Roman-González, Corral, Pablo [https://orcid.org/0000-0003-0017-8725], and Santos, Raul D. [https://orcid.org/0000-0002-9860-6582]
- Subjects
Male ,Hypertriglyceridemia ,Familial chylomicronemia syndrome ,Nutrition and Dietetics ,Glycosylphosphatidylinositols ,Endocrinology, Diabetes and Metabolism ,RNA-Binding Proteins ,FCS ,Lipoprotein Lipase ,Latin America ,Pancreatitis ,Loss of Function Mutation ,Chylomicrons ,Clinical phenotype ,Diabetes Mellitus ,Internal Medicine ,Humans ,Female ,Hyperlipoproteinemia Type I ,Cardiology and Cardiovascular Medicine ,Triglycerides - Abstract
Familial chylomicronemia syndrome (FCS) is a rare genetic disorder characterized by extremely high triglyceride levels due to impaired clearance of chylomicrons from plasma. This paper is the result of a panel discussion with Latin American specialists who raised the main issues on diagnosis and management of FCS in their countries. Overall FCS is diagnosed late on the course of the disease, is characterized by heterogeneity on the occurrence of pancreatitis, and remains a long time in care of different specialists until reaching a lipidologist. Pancreatitis and secondary diabetes are frequently seen, often due to late diagnosis and inadequate care. Molecular diagnosis is unusual; however, loss of function variants on the lipoprotein lipase gene are apparently the most frequent etiology. A founder effect of the glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene has been described in the northeast of Brazil. Low awareness of the disease amongst health professionals contributes to inadequate care and an inadequate patient journey.
- Published
- 2021