TY - JOUR T1 - Clinical and Laboratory Evaluation of Cases with Familial Hypercholesterolemia: A Multicentre Study AU - Akgün, Abdurrahman AU - Uzunyayla, Gozde AU - Gucuyener Ozkan, Neslihan AU - Zubarioglu, Tanyel AU - İster, Meral Bahar AU - Ünal, Özlem AU - Er, Esra AU - Teke Kısa, Pelin AU - Bilgin, Hüseyin AU - Aslantaş, Merve AU - Onal, Hasan AU - Kiykim, Ertugrul AU - Aktuglu Zeybek, Ayse Cigdem PY - 2025 DA - June Y2 - 2025 DO - 10.5798/dicletip.1723050 JF - Dicle Medical Journal JO - diclemedj PB - Dicle Üniversitesi WT - DergiPark SN - 1300-2945 SP - 283 EP - 297 VL - 52 IS - 2 LA - en AB - Aim: Familial hypercholesterolemia leads to the buildup of atherosclerotic plaques in the arteries, greatly elevating the risk of early-onset coronary heart disease. The objective of this study was to examine the clinical, laboratory, and genetic profiles of patients affected by familial hypercholesterolemia.Methods: A retrospective review was performed on the demographic, clinical, biochemical and genotypic profiles of 124 individuals diagnosed with familial hypercholesterolemia.Results: These cases from 6 centres comprised 50.8% males and 49.2% females. There was a history of hypercholesterolemia in the mothers of 43.5% of the cases and in the fathers of 53.2%. At the time of diagnosis, 81.5% of the cases had no complaints, 3.2% had skin lesions and 3.2% had weight gain complaints. Mutations were detected in the LDLR gene in 95.2% of the cases, in the APOE gene in 3.2% and in the APOB gene in 1.6%.Conclusion: Familial hypercholesterolemia cases are still under-detected both in Türkiye and worldwide. 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J AtherosclerThromb.2019;26(2):121-7. doi:10.5551/jat.RV17029 UR - https://doi.org/10.5798/dicletip.1723050 L1 - https://dergipark.org.tr/tr/download/article-file/4973844 ER -