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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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.

Background: Muscular dystrophies are a wide heterogeneity group of neuromuscular diseases that very often constitutes a challenge for clinicians  to perform an adequate diagnosis. Many patients remain underdiagnosed o misdiagnosed consequently affecting their prognosis and quality of life. Therefore, we aimed to establish clinical and molecular characteristics of patients with increased CPK levels and muscular dystrophies in our region to facilitate diagnosis and follow-up on patients with suspected muscular dystrophies. Methods: A cross-sectional study was made using a retrospective search of patients attended in Comfamiliar Risaralda between 2010 and 2021. The study included patients from both genders and all ages who presented with a diagnosis of polymyositis, myoclonus, myopathy, and muscular dystrophy between 2010 and 2022 in Comfamiliar Risaralda. Patients with CPK levels lower than 500 U/L were excluded. Results: A database analysis was carried out from 2010 to 2022 of 5219 patients treated in a fourth-level care institution in the Eje Cafetero region, finding 221 patients filtered by a diagnosis of myopathy, myoclonus, polymyositis, and dystrophy. We found a combined prevalence of all muscular dystrophies of 4.2 per 100.000 habitants, Duchenne muscular dystrophy of 0.6 per 100.000 habitants, limb-girdle muscular dystrophy of 0.6 per 100.000 habitants, facioscapulohumeral dystrophy of 0.5 per 100.000 habitants, Bethem dystrophy, type 2 Emery Dreifuss muscular dystrophy and merosin-deficient muscular dystrophy of 0.1 per 100.000 habitants. A diagnostic sequence was elaborated from clinical and paraclinical features found in our patients. Conclusions: Although muscular dystrophies consist of a heterogeneous group of neuromuscular diseases, there are still clinical and paraclinical features that can help physicians to detect any particular case and perform a good approach and follow-up. Our diagnostic sequence will facilitate physicians to determine any particular muscular dystrophy.