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Familial chylomicronemia syndrome (FCS) is a rare inherited condition due to lipoprotein lipase deficiency, characterized by hyperchylomicronemia and severe hypertriglyceridemia. Diagnosis is often delayed, thus increasing the risk of acute pancreatitis and hospitalization. Hypertriglyceridemia is a common finding in patients with type 2 diabetes (T2D), who may harbor FCS among the most severe forms. We investigated the prevalence and clinical characteristics associated with severe hypertriglyceridemia in a range indicative of FCS, in a large population of subjects with T2D. Within the large population of the AMD Annals Initiative, patients with T2D with a lipid profile suggestive of FCS [triglycerides >880 mg/dL and/or high-density lipoprotein (HDL)-cholesterol <22 mg/dL or non-HDL-cholesterol ≤70 mg/dL] and their clinical features have been identified. Overall, 8592 patients had triglyceride values >880 mg/dL in a single examination, 613 in two examinations, and 34 in three or more measurements. Patients with high triglyceride levels were mostly male (80%), with a relatively young age (54 years), short duration of diabetes (6.3 years), and elevated hemoglobin A1c (HbA1c) levels (9.4%). By stratifying this group of patients according to the severity of hypertriglyceridemia, more severe hypertriglyceridemia (triglyceride levels ≥2000 mg/dL) was associated with an even younger age (52 vs. 54 years), even higher mean HbA1c values (10.0% vs. 9.4%), and significantly higher HDL-cholesterol levels (37.9 vs. 32.4 mg/dL; < 0.0001). Patients with persistently elevated triglyceride levels ( = 34), on three measurements, had a younger age; lower body mass index, HbA1c, and HDL-cholesterol levels; more frequent use of fibrates and insulin; and a higher prevalence of major cardiovascular events. Severe hypertriglyceridemia is a frequent condition in outpatients with T2D participating in the AMD Annals Initiative, and it is associated with male sex, young age, short disease duration, and a worse glycemic profile. Among patients with persistent severe hypertriglyceridemia, hidden FCS may be present.
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http://dx.doi.org/10.1089/met.2024.0093 | DOI Listing |
Lipids Health Dis
September 2025
Department of Gastroenterology, Weifang People's Hospital, The First Affiliated Hospital of Shandong Second Medical University, 151 Guangwen Street, Weifang, Shandong, 261000, China.
Background: Current scoring systems for hypertriglyceridaemia-induced acute pancreatitis (HTG-AP) severity are few and lack reliability. The present work focused on screening predicting factors for HTG-SAP, then constructing and validating the visualization model of HTG-AP severity by combining relevant metabolic indexes.
Methods: Between January 2020 and December 2024, retrospective clinical information for HTG-AP inpatients from Weifang People's Hospital was examined.
United European Gastroenterol J
September 2025
Department of Internal Medicine I, Gastroenterology, Hepatology, Endocrinology, Rheumatology, and Infectious Diseases, University Hospital Regensburg, Regensburg, Germany.
Background And Aims: The incidence of acute pancreatitis is increasing in the Western world. About 10% of cases are caused by hypertriglyceridemia. Plasmapheresis was shown to reduce serum triglyceride (TG) levels, and current apheresis guidelines recommend its use in severe acute hypertriglyceridemia-induced pancreatitis (HIP).
View Article and Find Full Text PDFMedicine (Baltimore)
September 2025
Methodist Digestive Institute, Methodist Dallas Medical Center, Dallas, TX.
Rapidly identifying acute pancreatitis (AP) patients at higher risk of developing severe AP (SAP) can help clinicians better direct medical treatment and management. Therefore, we examined clinical parameters and laboratory markers in patients with different etiologies and severities of AP. Demographic, clinical characteristics, and laboratory data were collected from electronic medical records of adult patients with AP and admitted to 1 healthcare system between 2015 and 2021.
View Article and Find Full Text PDFGenet Med Open
July 2025
Faculty of Biology Medicine and Health, University of Manchester, United Kingdom.
Purpose: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder. This study aimed to analyze the genotype distribution of FCS-causing genes in the United Kingdom.
Methods: Data were anonymously collated from 2 genetic testing laboratories providing national genetic diagnosis services for severe hypertriglyceridemia in the United Kingdom.
J Med Chem
September 2025
The Second Affiliated Hospital of Shandong First Medical University, Taian, Shandong 271000, China.
Familial hypertriglyceridemia (FHTG), a severe subtype of primary hypertriglyceridemia caused by mutations in and other related genes, is linked to life-threatening cardiovascular complications. Current therapies inadequately address the underlying genetic pathology. Here, we developed a novel exosome-based mRNA delivery platform to restore functional glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 () expression, providing a targeted therapeutic strategy for FHTG.
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