Prevalencia de hipertrigliceridemia en adultos y factores cardiometabólicos asociados. Estudio SIMETAP-HTG

Ruiz‐García, Antonio; Arranz-Martínez, Ezequiel; López-Uriarte, Beatriz; Rivera-Teijido, Montserrat; Palacios-Martínez, D.; Dávila-Blázquez, Gema M.; Rosillo-González, Antonio; Delgado, José Antonio González-Posada; Mariño-Suárez, José Enrique; Revilla-Pascual, Enrique; Quintana-Gómez, José Luis; Íscar-Valenzuela, Ignacio; Alonso-Roca, Rafael; Javierre-Miranda, A.P.; Escrivá-Ferrairó, R.A.; Tello-Meco, Isabel; Ibarra-Sánchez, Ana María; Sánchez, M. Isabel Gutiérrez; Quintana, Juan Ramón Iglesias; Hernández-Beltrán, M. Inmaculada; Fernández, Montserrat Pérez; Barrios-Rueda, Elena; Muñoz, Raúl Pérez; Marcos, Miguel Prieto; Rodríguez, Santiago Delgado; Raposo, Raquel Pleite; Rodríguez-Cabanillas, Rafael; Morales-Chico, M. Rosario; Vila, Diana Fernández-Pacheco; Remón-Pérez, Beatriz; Redondo, M. Jesús del Villar; Reguillo-Díaz, Joaquina; Reija, Paloma Aguilera; Rodríguez, Ana Olga Rodríguez; Gómez-Fernández, Ofelia; Antón-Sanz, M. del Carmen; Sánchez-Calso, Antonio; Doria-Carlin, Norma Alejandra; Frías-Vargas, Manuel J.

doi:10.1016/j.arteri.2020.04.001

Cited by 14 publications

(11 citation statements)

References 49 publications

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“…In the present study performed in a fourth-level care center in Colombia in the period between the years 2010-2020, 64.19% of patients with HTG were men with a larger proportion between 45 and 55 years old, and in comparison, 35.81% were women with a higher proportion between 50 and 60 years old. This is in concordance as well with the higher men proportion in the SIMETAP-HTG study that showed a prevalence of 34,6% for men and 21,4% for women (23). In Norway, the prevalence of severe HTG was of 0.13% with a 95% CI (0.12-0.14), and 39 patients equivalent to 0.037% with very severe HTG (18, 27).…”

Section: Discussionsupporting

confidence: 85%

“…Although HTG has a frequent presentation in clinical practice, severe HTG has a prevalence of only 0.11% (23) and FCS represents 1-3% of those severe HTGs (12). The prevalence of severe HTG in the present study is 0,44%, (95% Crl: 0.39-0.49) (n = 354), with FCS representing 0.28% of those severe HTGs.…”

Section: Discussioncontrasting

confidence: 41%

“…In a second stage, those patients identi ed with the absence of risk factors (speci c diagnoses and medications) for HTG underwent a medical consultation to collect current information, and to request a new APOB lipid pro le and glycated hemoglobin (HbA1c) for a subsequent application of the Moulin´s Familial Chylomicronemia Score, which is reported in the literature as a scoring system for the differential diagnosis of FCS (10,23). This tool allows assessment using a standardized score of values of the current lipid pro le, signs and symptoms, and response to lipid-lowering treatment.…”

Section: Methodsmentioning

confidence: 99%

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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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Section: Discussionsupporting

confidence: 85%

Section: Discussioncontrasting

confidence: 41%

Section: Methodsmentioning

confidence: 99%

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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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“…Sex susceptibility has been analyzed in different pathologies, showing that women seem to be the strongest sex, facing diseases such as hypertriglyceridemia (HTG), type 2 diabetes, cardiovascular disease (CVD), or chronic obstructive pulmonary disease, among others, which has usually been attributed to a better immune system and hormonal system. However, although women indeed present a lower prevalence of CVD, a later age for the diagnosis of diseases such as diabetes or HTG, and lower mortality, they also suffer from a situation of underdiagnosis in most diseases ( 30 – 33 ). Some articles hypothesized that it would be role of androgens to detect the progression and prognosis after COVID-19 infection, since the spike proteins of the SARS-COV2 virus would use the transmembrane protease serine 2 for entry into the host ( 34 ).…”

Section: Discussionmentioning

confidence: 99%

Relationship between initial symptoms and the prognosis, sex, and demographic area of patients with COVID-19

et al. 2022

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BackgroundA method of determining the initial symptoms and main prognostic identifiers for COVID-19 can be a key tool for physicians, especially primary care physicians. Therefore, the objective of this study was to examine the prognosis of patients with COVID-19 from two different demographic regions according to baseline and main symptoms, age, and sex.MethodsAll individuals selected from both urban and rural health centers were over 18 years of age, had COVID-19 before 2 March 2021, and were followed up with a primary care physician. All patients included in this study were recruited in terms of sex, age at the time of infection, type of contact, baseline symptoms, primary and secondary symptomatology, emergency assistance, hospitalization, intensive care unit (ICU) admission, and death.ResultsA total of 219 and 214 subjects were recruited from rural and urban health centers, respectively. Subjects with COVID-19 from rural areas were significantly older in age, with a higher proportion of men, and had significantly lower baseline and main symptoms than those from urban areas. In addition, the presence of both fever and dyspnea as the initial or main symptom is significantly associated with emergency assistance, hospitalization, and death, regardless of sex, age, and demographic area. This type of illness was reported to be significantly less frequent in the rural population than in the urban population.ConclusionThe presence of both fever and dyspnea as both initial and main symptoms is a poor prognostic factor for COVID-19, regardless of age, sex, and demographic areas. In addition, women reported lower levels of fever and dyspnea, requiring minimal emergency assistance and fewer hospitalization, and a lower rate of mortality than men. During a COVID-19 infection follow-up, subjects in rural areas seem to have less access to medical care than those in urban areas.

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“…In a third stage, a subsequent application of Moulin’s Familial Chylomicronemia Score was made, which is reported in the literature as a scoring system for the differential diagnosis of FCS [ 10 , 23 ]. This tool allows assessment using a standardized score of values of the current lipid profile, signs and symptoms, and response to lipid-lowering treatment.…”

Section: Methodsmentioning

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

View full text Add to dashboard Cite

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.

show abstract

Prevalencia de hipertrigliceridemia en adultos y factores cardiometabólicos asociados. Estudio SIMETAP-HTG

Cited by 14 publications

References 49 publications

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

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

Relationship between initial symptoms and the prognosis, sex, and demographic area of patients with COVID-19

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

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