Challenges in familial chylomicronemia syndrome diagnosis and management across Latin American countries: An expert panel discussion.

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

Journal: Journal of clinical lipidology 2022;15(5):620-624

PMID: 34920815

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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.

Address: Lipid Clinic Heart Institute (InCor), University of Sao Paulo Medical School Hospital, Avenida Dr. Eneas de Carvalho Aguiar, 44-05403-900, Sao Paulo, Brazil; Hospital Israelita Albert Einstein, Sao Paulo, Brazil. Electronic address: [email protected].; Rusculleda Foundation for Research, DAMIC Medical Institute, Cordoba, Argentina.; Pharmacology Department, FASTA University, School of Medicine, Mar del Plata, Argentina.; Facultad de Ciencias de la Salud, Universidad Nacional de Formosa, Formosa, Argentina.; Universidad of Salvador, Buenos Aires, Argentina.; Hospital Alta Complejidad El Cruce, UNLP, Argentina.; Centro Universitario Estacio de Ribeirao Preto, Ribeirao Preto, Sao Paulo, Brazil.; Lipids, Atherosclerosis, and Vascular Biology Section, Cardiology Division, Universidade Federal de Sao Paulo, Sao Paulo, Brazil.; Hospital Universitario Onofre Lopes (HUOL), Universidade Federal do Rio Grande do Norte, Natal, Brazil.; Laboratorio de Lipides (LIM-10), Hospital das Clínicas (HCFMUSP) da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil; Hospital Israelita Albert Einstein, Sao Paulo, Brazil.; Center for Advanced Metabolic Medicine and Nutrition, Santiago, Chile.; Hospital Carlos Andrade Marin and Hospital Alianza, Quito, Ecuador.; Departments of Internal Medicine and of Clinical Epidemiology, School of Medicine, Pontificia Universidad Javeriana, Bogota, Colombia.; Metabolic Diseases Study Group, Department of Internal Medicine, Universidad del Cauca, Popayán, Colombia.; Hospital Universitario Fundación Santa Fe de Bogotá, Universidad de los Andes, Universidad El Bosque, D.C., Bogotá, Colombia.; Hospital Universitario San Vicente Fundación, Universidad de Antioquia, Medellín, Colombia.

DOI: 10.1016/j.jacl.2021.10.004

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MeSH Terms: Chylomicrons, Diabetes Mellitus, Female, Glycosylphosphatidylinositols, Humans, Hyperlipoproteinemia Type I, Latin America, Lipoprotein Lipase, Loss of Function Mutation, Male, Pancreatitis, RNA-Binding Proteins, Triglycerides