{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T07:48:17Z","timestamp":1790668097353,"version":"4.1.0"},"reference-count":40,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2023,3,28]],"date-time":"2023-03-28T00:00:00Z","timestamp":1679961600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,3,28]],"date-time":"2023-03-28T00:00:00Z","timestamp":1679961600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"PTC Therapeutics, Colombia"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Lipids Health Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and aim<\/jats:title>\n                    <jats:p>Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive metabolic disorder caused by mutations in genes involved in chylomicron metabolism. On the other hand, multifactorial chylomicronemia syndrome (MCS) is a polygenic disorder and the most frequent cause of chylomicronemia, which results from the presence of multiple genetic variants related to chylomicron metabolism, in addition to secondary factors. Indeed, the genetic determinants that predispose to MCS are the presence of a heterozygous rare variant or an accumulation of several SNPs (oligo\/polygenic). However, their clinical, paraclinical, and molecular features are not well established in our country. The objective of this study was to describe the development and results of a screening program for severe hypertriglyceridemia in Colombia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A cross-sectional study was performed. All patients aged &gt;18\u2009years with triglyceride levels \u2265500\u2009mg\/dL from 2010 to 2020 were included. The program was developed in three stages: 1. Review of electronic records and identification of suspected cases based on laboratory findings (triglyceride levels \u2265500\u2009mg\/dL); 2. Identification of suspected cases based on laboratory findings that also allowed us to exclude secondary factors; 3. Patients with FCS scores &lt;8 were excluded. The remaining patients underwent molecular analysis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In total, we categorized 2415 patients as suspected clinical cases with a mean age of 53\u2009years, of which 68% corresponded to male patients. The mean triglyceride levels were 705.37\u2009mg\/dL (standard deviation [SD] 335.9\u2009mg\/dL). After applying the FCS score, 2.4% (n\u2009=\u200918) of patients met the probable case definition and underwent a molecular test. Additionally, 7 patients had unique variants in the\n                      <jats:italic>APOA5<\/jats:italic>\n                      gene (c.694\u2009T\u2009&gt;\u2009C; p. Ser232Pro) or in the\n                      <jats:italic>GPIHBP1<\/jats:italic>\n                      gene (c.523G\u2009&gt;\u2009C; p. Gly175Arg), for an apparent prevalence of familial chylomicronemia in the consulting population of 0.41 per 1.000 patients with severe HTG measurement. No previously reported pathogenic variants were detected.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This study describes a screening program for the detection of severe hypertriglyceridemia. Although we identified seven patients as carriers of a variant in the\n                      <jats:italic>APOA5<\/jats:italic>\n                      gene, we diagnosed only one patient with FCS. We believe that more programs of these characteristics should be developed in our region, given the importance of early detection of this metabolic disorder.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12944-022-01768-x","type":"journal-article","created":{"date-parts":[[2023,3,28]],"date-time":"2023-03-28T05:03:06Z","timestamp":1679979786000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Analyses of familial chylomicronemia syndrome in Pereira, Colombia 2010\u20132020: a cross-sectional study"],"prefix":"10.1186","volume":"22","author":[{"given":"Franklin Hanna","family":"Rodriguez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge Mario","family":"Estrada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry Mauricio Arenas","family":"Quintero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Patricio","family":"Nogueira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gloria Liliana","family":"Porras-Hurtado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,3,28]]},"reference":[{"key":"1768_CR1","unstructured":"Cepeda LL, Ramos-Garibay JA, Calder\u00f3n DP, Reyes M. 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