Article
Homozygous familial hypercholesterolemia in a high-consanguinity population: Insights from a Saudi cohort.
Journal of clinical lipidology - 1 Jan 2025
Alsagheir Afaf, Abdullah Ismail A, Albitar Mohammed, Aljaser Alhanouf, Alansari Rahaf, Ali Anas, Aldamouni Maeen, Alhosainy Ziad, Mohamed Rojina, Jaamour Heba, Alhuthil Raghad, Al-Hamoudi Saad, Aldayel Abdualziz, Aljumaa Mohammad, Khamaj Yara, Mcrabi Ali, Alquayt Meshari, Al-Ashwal Abdullah
Abstract excerpt
BACKGROUND: Homozygous familial hypercholesterolemia (HoFH) is a genetic disorder characterized by markedly elevated low-density lipoprotein cholesterol (LDL-C) levels and a significantly increased risk of early-onset cardiovascular disease (CVD) and premature death. This study investigates the clinical features, treatment outcomes, genetic findings, and reverse cascade screening results for HoFH patients....
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