DB04 Application of the NAFCS Scoring System in Monogenic Hypertriglyceridemia Patients: A Single - Center Turkish Cohort Study
Bildiriler > Özet Bildiri
Yazarlar: I I Yıldırım Sımsır, G Ünal Kocabaş, O Belen, P Cıftcı, U E Soyaltın, S Özgur, A Aykut, H Akın, R A Hegele
European Journal of Endocrinology, , , Uluslararası, Özet Bildiri, Wos, cilt 195
DOI: 10.1093/ejendo/lvag128.023
Özet
Abstract Background and purpose Hypertriglyceridemia (HTG) may result from various etiologies, including the rare autosomal recessive disorder of chylomicron metabolism known as Familial Chylomicronemia Syndrome (FCS). Because of the risk of recurrent acute pancreatitis and pancreatic insufficiency, early diagnosis is critical. Although genetic testing is the gold standard, access remains limited in many settings. The North American Familial Chylomicronemia Syndrome (NAFCS) score was developed as a clinical tool using readily available clinical and biochemical parameters. This study evaluated the performance of the NAFCS score in genetically confirmed FCS patients. Methods Thirty-eight patients with genetically confirmed biallelic mutations causing FCS were evaluated retrospectively. Demographic, clinical, laboratory, and pancreatitis data were collected. NAFCS was applied to each patient, and concordance between score categories and genetic diagnosis was assessed descriptively. Results Among 38 genetically confirmed FCS patients, 52.6% were female. Median age was 35 years (IQR: 27–48), and acute pancreatitis had occurred in 86.8%. Median triglyceride level was 3523 mg/dL (IQR: 2553–4470), and median NAFCS was 65 (IQR: 52–81). Overall, 65.8% scored ≥60, 18.4% scored 45–59, and 15.8% scored <45. Conclusion The NAFCS score may be a useful tool for identifying patients with FCS, particularly where genetic testing is unavailable. In this cohort, 84.2% scored ≥45, the proposed threshold for likely or definite FCS, supporting the clinical utility of the scoring system in patients with HTG.