Perfil clínico de los pacientes con hipertrigliceridemia muy severa del Registro de Hipertrigliceridemias de la Sociedad Española de Arteriosclerosis

Pedragosa, Àngels; Merino, Jordi; Aranda, José Luis; Galiana, Jesús; Godoy, Diego; Panisello, Josefa María; Ascaso, Juan F.; Civeira, Fernando; Pedro‐Botet, Juan

doi:10.1016/j.arteri.2012.11.001

Cited by 12 publications

(4 citation statements)

References 16 publications

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“…Among participants who were included in the Spanish Registry of Hypertriglyceridemia, the prevalence of AP was 10% in those who were referred with total TG N 1000 mg/dL, but only 3% in those referred with TG b 500 mg/dL [21].…”

Section: Epidemiology Of Htg-apmentioning

confidence: 99%

Current knowledge of hypertriglyceridemic pancreatitis

Valdivielso¹,

Ramírez-Bueno²,

Ewald³

2014

European Journal of Internal Medicine

353

311

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Section: Epidemiology Of Htg-apmentioning

confidence: 99%

Current knowledge of hypertriglyceridemic pancreatitis

Valdivielso¹,

Ramírez-Bueno²,

Ewald³

2014

European Journal of Internal Medicine

353

311

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“…In addition, it was found a prevalence of obesity of 12.9%, a gure lower than the data observed in the Norwegian study, which was 41.6% (18). On the other hand, Pedragosa et al found in a study that 10.2% of patients with very severe HTG presented some episode of pancreatitis, 54% of patients had hepatic steatosis, 4.2% were detected with gallstones, 3.4% with ischemic heart disease, 2.3% with cerebrovascular disease and 2.7% had peripheral artery disease (30). These ndings suggest that although pancreatitis is a major complication, it is important to be aware of cardiovascular outcomes as well.…”

Section: Discussionmentioning

confidence: 95%

Analyses of Familial Chylomicronemia Syndrome And Multifactorial Chylomicronemia In Colombia 2010-2020: A Cross-Sectional Study

Rodriguez¹,

Alvarez²,

Quintero³

et al. 2022

Preprint

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Background and aim 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. 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. Methods A cross-sectional study was performed. All patients aged > 18 years with triglyceride levels ≥ 500 mg/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 ≥ 500 mg/dL); 2. Identification of suspected cases, based on laboratory findings that had no relevant secondary factors; 3. Probable cases were identified as having an FCS score ≥ 8 and performing genetic tests in probable cases with available samples. Results In total, we categorized 2415 patients as suspected clinical cases with a mean age of 53 years, of which 68% corresponded to male patients. The mean triglyceride levels were 705.37 mg/dL (standard deviation [SD] 335.9 mg/dL). After applying the FCS score, 2.4% of patients met the probable case definition, of which only 18 accepted molecular test. Additionally, 7 patients had unique variants in the APOA5 gene (c.694T > C; p.Ser232Pro) or in the GPIHBP1 gene (c.523G > C; p.Gly175Arg), for an apparent prevalence of familial chylomicronemia in the consulting population of 1,2 per 100.000 patients with TG measurement. No previously reported pathogenic variants were detected. Conclusion This study describes a screening program for the detection of severe hypertriglyceridemia. Although we identified seven patients as carriers of a variant in the APOA5 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.

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“…In addition, a prevalence of obesity of 12.9% was found, a figure lower than the data observed in the Norwegian study, which was 41.6% [ 18 ]. On the other hand, Pedragosa et al found that 10.2% of patients with very severe HTG presented some episode of pancreatitis, 54% of patients had hepatic steatosis, 4.2% had gallstones, 3.4% had ischemic heart disease, 2.3% had cerebrovascular disease and 2.7% had peripheral artery disease [ 32 ]. These findings suggest that although pancreatitis is a major complication, it is important to be aware of cardiovascular outcomes as well.…”

Section: Discussionmentioning

confidence: 99%

Analyses of familial chylomicronemia syndrome in Pereira, Colombia 2010–2020: a cross-sectional study

Rodriguez¹,

Estrada²,

Quintero³

et al. 2023

Lipids Health Dis

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Background and aim 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. Methods A cross-sectional study was performed. All patients aged >18 years with triglyceride levels ≥500 mg/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 ≥500 mg/dL); 2. Identification of suspected cases based on laboratory findings that also allowed us to exclude secondary factors; 3. Patients with FCS scores <8 were excluded. The remaining patients underwent molecular analysis. Results In total, we categorized 2415 patients as suspected clinical cases with a mean age of 53 years, of which 68% corresponded to male patients. The mean triglyceride levels were 705.37 mg/dL (standard deviation [SD] 335.9 mg/dL). After applying the FCS score, 2.4% (n = 18) of patients met the probable case definition and underwent a molecular test. Additionally, 7 patients had unique variants in the APOA5 gene (c.694 T > C; p. Ser232Pro) or in the GPIHBP1 gene (c.523G > C; 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. Conclusion This study describes a screening program for the detection of severe hypertriglyceridemia. Although we identified seven patients as carriers of a variant in the APOA5 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.

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Perfil clínico de los pacientes con hipertrigliceridemia muy severa del Registro de Hipertrigliceridemias de la Sociedad Española de Arteriosclerosis

Cited by 12 publications

References 16 publications

Current knowledge of hypertriglyceridemic pancreatitis

Current knowledge of hypertriglyceridemic pancreatitis

Analyses of Familial Chylomicronemia Syndrome And Multifactorial Chylomicronemia In Colombia 2010-2020: A Cross-Sectional Study

Analyses of familial chylomicronemia syndrome in Pereira, Colombia 2010–2020: a cross-sectional study

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