Challenges in familial chylomicronemia syndrome diagnosis and management across latin american countries: an expert panel discussion

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 man...

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Autores:
Lorenzatti, Alberto J.
Nogueira, Juan Patricio
Cafferata, Alberto M.
Aimone, Daniel
Lourenco, Charles Marques
Izar, Maria Cristina De Oliveira
de Lima, Josivan Gomes
Lottenberg Pita, Ana Maria
Alonso, Rodrigo
Garay, Karla
Tipo de recurso:
Article of journal
Fecha de publicación:
2021
Institución:
Universidad El Bosque
Repositorio:
Repositorio U. El Bosque
Idioma:
eng
OAI Identifier:
oai:repositorio.unbosque.edu.co:20.500.12495/7066
Acceso en línea:
http://hdl.handle.net/20.500.12495/7066
https://doi.org/10.1016/j.jacl.2021.10.004
Palabra clave:
FCS
Familial chylomicronemia syndrome
Hypertriglyceridemia
Clinical phenotype
Rights
openAccess
License
Acceso abierto
Description
Summary: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.