ArticleThe Journal of clinical endocrinology and metabolism2025
Comparison of Patients With Familial Chylomicronemia Syndrome and Multifactorial Chylomicronemia Syndrome.
Article in The Journal of clinical endocrinology and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Heterozygosity for pathogenic variants in familial chylomicronemia syndrome genes: from carrier state to complex trait.Current opinion in lipidology · 2026Review
- Genetic Determinants of Severe Hypertriglyceridemia: Rare Variants inInternational journal of molecular sciences · 2026Article
- An Updated Review of Novel Triglyceride-Lowering Therapies in Adults with Familial Chylomicronemia Syndrome.American journal of cardiovascular drugs : drugs, devices, and other interventions · 2026Review
- Course of Pregnancies and Occurrence of Acute Pancreatitis in Women With Chylomicronemia.The Journal of clinical endocrinology and metabolism · 2026Article
- Multimodal Management of Extreme Hypertriglyceridemia in a Child with Recurrent Pancreatitis: Clinical Challenges and Solutions.Journal of clinical medicine · 2026Article
- Course of Pregnancy in a Woman With Familial Chylomicronemia Syndrome Treated With Plozasiran, a Small Interfering RNA Against ApoC3.JIMD reports · 2026Article
- Clinical considerations for the treatment of patients with familial chylomicronemia syndrome using a hepatic-targetedAmerican journal of preventive cardiology · 2025Review
- Anti-apoC-III Therapies and Implications for Treatment of Pancreatitis and Cardiovascular Disease.Current atherosclerosis reports · 2025Review
- Experience with apheretic treatment in the chronic management of severe hypertriglyceridemia: case series.Endocrine · 2025Article
- Glycerol Kinase Gene Variant as a Cause of Pseudohypertriglyceridemia and Apparent Poor Response to Plozasiran.JCEM case reports · 2025Article
- Recognition and management of persistent chylomicronemia: A joint expert clinical consensus by the National Lipid Association and the American Society for Preventive Cardiology.American journal of preventive cardiology · 2025Article
- An overview of persistent chylomicronemia: much more than meets the eye.Current opinion in endocrinology, diabetes, and obesity · 2025Review
- What is the phenotype of heterozygous lipoprotein lipase deficiency?Current opinion in lipidology · 2025Review
- Current and Emerging Treatment Options for Hypertriglyceridemia: State-of-the-Art Review.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Recognition and management of persistent chylomicronemia: A Joint Expert Clinical Consensus by the National Lipid Association and the American Society for Preventive Cardiology.Journal of clinical lipidologyArticle
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextPatients with rare familial chylomicronemia syndrome (FCS) and relatively common multifactorial chylomicronemia syndrome (MCS) both express severe hypertriglyceridemia, defined as plasma triglyceride concentration ≥10 mmol/L (≥885 mg/dL). Clinically there can be confusion between the 2 conditions.
objectiveTo compare clinical and biochemical phenotypes in patients with genotypically characterized FCS and MCS.
methodsWe performed targeted sequencing of DNA from 193 patients with severe hypertriglyceridemia, classified them as having either FCS or MCS, and compared clinical and biochemical characteristics.
resultsPatients with FCS were significantly younger than patients with MCS (31.4 ± 16.7 vs 51.0 ± 11.3 years; P = .003), with earlier age at symptom onset (15.0 ± 15.8 vs 37.8 ± 8.8 years; P = .00066), lower body mass index (23.3 ± 3.1 vs 30.7 ± 5.0 kg/m2; P = .000016), and higher prevalence of pancreatitis events (81.8% vs 35.2%; P = .003). Furthermore, patients with FCS had a higher ratio of triglyceride to total cholesterol (ie, 4.18 ± 0.92 vs 1.08 ± 0.51; P < .0001) and lower plasma apolipoprotein B (ie, 0.56 ± 0.15 vs 1.02 ± 0.43 g/L; P < .0001) than patients with MCS. Patients with MCS with heterozygous pathogenic variants had a relatively more severe clinical presentation than other MCS genetic subgroups.
conclusionPatients with FCS have notable phenotypic differences from patients with MCS, although there is overlap. While genetic analysis of patients with persistent severe hypertriglyceridemia can definitively diagnose FCS, 8.8% of patients with MCS with sustained refractory hypertriglyceridemia behave functionally as if they have FCS, which should influence their eligibility for novel therapies for severe hypertriglyceridemia.
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