What is the clinical evidence from this study?

Study design: Cross-Sectional. Population: Severe hypertriglyceridemia and Familial chylomicronemia syndrome (n=2415). Intervention: Severe hypertriglyceridemia. Primary outcome: Apparent prevalence of familial chylomicronemia.

March 28, 2023Lipids in Health and DiseaseOpen Access

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

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Key result

A screening program for severe hypertriglyceridemia identified a familial chylomicronemia prevalence of 0.41 per 1,000 patients, with seven carrying unique APOA5 or GPIHBP1 variants.

Why the study?

Clinical, paraclinical, and molecular features of chylomicronemia syndromes were not well established in Colombia, prompting description of a screening program for severe hypertriglyceridemia.

Population

2415 patients aged >18 years with triglyceride levels ≥500 mg/dL in Colombia

Design

Cross-sectional study

Authors

FRFranklin Hanna RodríguezUniversidad de La Sabana JEJorge Mario Estrada-ÁlvarezTechnological University of Pereira HQHenry Mauricio Arenas QuinteroTechnological University of Pereira

Discussion

Member takes

Implication

Screening detects genetic variants in severe hypertriglyceridemia; leaves open optimal testing strategies and outcomes impact.

Study Design

Type

Cross-Sectional (n=2,415)

Multicenter

Structured PICO

Population

2,415 adults with severe hypertriglyceridemia (triglycerides ≥500 mg/dL) identified from a single center in Colombia between 2010 and 2020 to screen for familial chylomicronemia syndrome.

Exposure

Screening program for severe hypertriglyceridemia involving electronic record review, exclusion of secondary factors, application of Moulin's Familial Chylomicronemia Syndrome (FCS) score, and molecular analysis (exome sequencing of APOA5, APOC2, GPIHBP1, LMF1, and LPL genes).

Outcome

Prevalence of familial chylomicronemia syndrome and identification of pathogenic genetic variants.

A screening program for severe hypertriglyceridemia in Colombia identified a low prevalence of familial chylomicronemia syndrome, with most suspected cases carrying variants of uncertain significance.

Limitations

Variants of uncertain significance (VUS) found in the study need further confirmation by enzyme levels.
Data extraction by text mining using regular expressions may have missed some conditions due to natural language writing methods.
Possible subregistry of signs and symptoms if they were not explicitly documented in clinical histories.
Only variants of uncertain significance (VUS) were identified, making a definitive diagnosis of FCS highly difficult to establish.

Cite This Study

Rodríguez et al. (2023) conducted a cross-sectional in Severe hypertriglyceridemia and Familial chylomicronemia syndrome (n=2,415). Severe hypertriglyceridemia was evaluated on Apparent prevalence of familial chylomicronemia. A screening program for severe hypertriglyceridemia identified a familial chylomicronemia prevalence of 0.41 per 1,000 patients, with seven carrying unique APOA5 or GPIHBP1 variants.

synapsesocial.com/papers/6a5e5d80614e587148fc24aa https://doi.org/10.1186/s12944-022-01768-x

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

Discussion

Member takes

Implication

Study Design

Structured PICO

Limitations

Cite This Study

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

Discussion

Member takes

Implication

Study Design

Structured PICO

Limitations

Cite This Study

Also Consider

Also Consider