Dataset Information

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

ABSTRACT:

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.

SUBMITTER: Rodriguez FH

PROVIDER: S-EPMC10045250 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature

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Publications

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

Rodriguez Franklin Hanna FH Estrada Jorge Mario JM Quintero Henry Mauricio Arenas HMA Nogueira Juan Patricio JP Porras-Hurtado Gloria Liliana GL

Lipids in health and disease 20230328 1

<h4>Background and aim</h4>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 ...[more]

PMID: 36978188

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Project description:BackgroundFamilial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder characterized by persistent extreme hypertriglyceridemia as a result of lipoprotein lipase deficiency. Canada is an important region for FCS research due to the high prevalence rates. The burden of illness and quality of life of Canadian patients, however, have been inadequately addressed in the literature.ObjectiveTo understand the burden of illness of FCS on Canadian patients' lives.MethodsIN-FOCUS is a global web-based survey open to patients with FCS, including patients in Canada. This survey captured information on diagnostic experience, symptoms, comorbidities, disease management, and impact on multiple life dimensions.ResultsA total of 37 Canadian patients completed the IN-FOCUS survey. Patients saw a mean of 4 physicians before their FCS diagnosis despite 89% reporting an FCS family history. Patients experience multiple physical, emotional, and cognitive symptoms in addition to FCS-related comorbidities. Notably, 35% of those who answered the survey have experienced acute pancreatitis, averaging 14 lifetime episodes per patient. In the preceding 12 months, 46% of patients had an FCS-related hospitalization, averaging 3 nights' stay. All respondents restricted fat intake, with 27% following an extremely low-fat diet. Despite this, 100% of patients reported fasting TG levels above the normal range. FCS impacted career choice in nearly all patients (97%) and employment status in all patients who were employed part time, disabled, or homemakers, causing many (> 75%) to choose careers below their level of abilities. Furthermore, 2/3 of patients reported FCS had a significant impact on their decision regarding whether to have children. Most report significant interference with their emotional/mental well-being, social relationships, and the majority were concerned about the long-term impact of FCS on their health (89%).ConclusionsThis study provides the first and largest study to investigate the multi-faceted psychosocial and cognitive impacts of FCS on patients. Canadian patients with FCS experience significant multi-faceted burdens that diminish their quality of life, employment opportunities, social relationships, and mental/emotional well-being. These results highlight the need for greater disease awareness, improved clinical diagnosis, broader clinical management for heterogenous symptoms, and more effective treatment options for FCS.

Project description:In this study, we evaluated and forecasted the cumulative opportunities for residents to access radiotherapy services in Cali, Colombia, while accounting for traffic congestion, using a new people-centred methodology with an equity focus. Furthermore, we identified 1-2 optimal locations where new services would maximise accessibility. We utilised open data and publicly available big data. Cali is one of South America's cities most impacted by traffic congestion.MethodologyUsing a people-centred approach, we tested a web-based digital platform developed through an iterative participatory design. The platform integrates open data, including the location of radiotherapy services, the disaggregated sociodemographic microdata for the population and places of residence, and big data for travel times from Google Distance Matrix API. We used genetic algorithms to identify optimal locations for new services. We predicted accessibility cumulative opportunities (ACO) for traffic ranging from peak congestion to free-flow conditions with hourly assessments for 6-12 July 2020 and 23-29 November 2020. The interactive digital platform is openly available.Primary and secondary outcomesWe present descriptive statistics and population distribution heatmaps based on 20-min accessibility cumulative opportunities (ACO) isochrones for car journeys. There is no set national or international standard for these travel time thresholds. Most key informants found the 20-min threshold reasonable. These isochrones connect the population-weighted centroid of the traffic analysis zone at the place of residence to the corresponding zone of the radiotherapy service with the shortest travel time under varying traffic conditions ranging from free-flow to peak-traffic congestion levels. Additionally, we conducted a time-series bivariate analysis to assess geographical accessibility based on economic stratum. We identify 1-2 optimal locations where new services would maximize the 20-min ACO during peak-traffic congestion.ResultsTraffic congestion significantly diminished accessibility to radiotherapy services, particularly affecting vulnerable populations. For instance, urban 20-min ACO by car dropped from 91% of Cali's urban population within a 20-min journey to the service during free-flow traffic to 31% during peak traffic for the week of 6-12 July 2020. Percentages represent the population within a 20-min journey by car from their residence to a radiotherapy service. Specific ethnic groups, individuals with lower educational attainment, and residents on the outskirts of Cali experienced disproportionate effects, with accessibility decreasing to 11% during peak traffic compared to 81% during free-flow traffic for low-income households. We predict that strategically adding sufficient services in 1-2 locations in eastern Cali would notably enhance accessibility and reduce inequities. The recommended locations for new services remained consistent in both of our measurements.These findings underscore the significance of prioritising equity and comprehensive care in healthcare accessibility. They also offer a practical approach to optimising service locations to mitigate disparities. Expanding this approach to encompass other transportation modes, services, and cities, or updating measurements, is feasible and affordable. The new approach and data are particularly relevant for planning authorities and urban development actors.

Project description:ObjectivesTo test a new approach to characterise accessibility to tertiary care emergency health services in urban Cali and assess the links between accessibility and sociodemographic factors relevant to health equity.DesignThe impact of traffic congestion on accessibility to tertiary care emergency departments was studied with an equity perspective, using a web-based digital platform that integrated publicly available digital data, including sociodemographic characteristics of the population and places of residence with travel times.Setting and participantsCali, Colombia (population 2.258 million in 2020) using geographic and sociodemographic data. The study used predicted travel times downloaded for a week in July 2020 and a week in November 2020.Primary and secondary outcomesThe share of the population within a 15 min journey by car from the place of residence to the tertiary care emergency department with the shortest journey (ie, 15 min accessibility rate (15mAR)) at peak-traffic congestion hours. Sociodemographic characteristics were disaggregated for equity analyses. A time-series bivariate analysis explored accessibility rates versus housing stratification.ResultsTraffic congestion sharply reduces accessibility to tertiary emergency care (eg, 15mAR was 36.8% during peak-traffic hours vs 84.4% during free-flow hours for the week of 6-12 July 2020). Traffic congestion sharply reduces accessibility to tertiary emergency care. The greatest impact fell on specific ethnic groups, people with less educational attainment and those living in low-income households or on the periphery of Cali (15mAR: 8.1% peak traffic vs 51% free-flow traffic). These populations face longer average travel times to health services than the average population.ConclusionsThese findings suggest that health services and land use planning should prioritise travel times over travel distance and integrate them into urban planning. Existing technology and data can reveal inequities by integrating sociodemographic data with accurate travel times to health services estimates, providing the basis for valuable indicators.

Dataset Information

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

Background and aim

Methods

Results

Conclusion

Publications

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

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