Genetics of Familial Hypercholesterolemia

Ziske Maritska (Department of Biology Medicine, Faculty of Medicine, Universitas Sriwijaya, Palembang, Indonesia)
Aditya Rafrenda (Internal Medicine Residency Program, Faculty of Medicine, Universitas Sriwijaya, Palembang, Indonesia)
Amirah Adillah (Internal Medicine Residency Program, Faculty of Medicine, Universitas Sriwijaya, Palembang, Indonesia)
Balqis Wulandari (Internal Medicine Residency Program, Faculty of Medicine, Universitas Sriwijaya, Palembang, Indonesia)
Endah Rahmadani (Internal Medicine Residency Program, Faculty of Medicine, Universitas Sriwijaya, Palembang, Indonesia)
Ernes Putra Gunawan (Internal Medicine Residency Program, Faculty of Medicine, Universitas Sriwijaya, Palembang, Indonesia)
Khumaisiyah Khumaisiyah (Internal Medicine Residency Program, Faculty of Medicine, Universitas Sriwijaya, Palembang, Indonesia)
Nur Rakhman Pratama (Internal Medicine Residency Program, Faculty of Medicine, Universitas Sriwijaya, Palembang, Indonesia)
Trizky Nataza Putra (Internal Medicine Residency Program, Faculty of Medicine, Universitas Sriwijaya, Palembang, Indonesia)

Biomedical Journal of Indonesia
Vol. 9 No. 3 (2023): Vol 9, No 3, 2023

Cholesterol is a necessary component of numerous physiologic processes that must be strictly regulated. Multiple genetic disorders, such as Familial Hypercholesterolemia, frequently induce dysfunctional cholesterol metabolism. Familial hypercholesterolemia (FH) is a frequent hereditary autosomal co-dominant marked by disarray by increased plasma amounts of low-density lipoprotein (LDL) cholesterol and premature cardiovascular disease. Familial Hypercholesterolemia (FH) is increasing but often remains underdiagnosed. This review aims to outline existing information on Familial Hypercholesterolemia with a focus on genetics, diagnostic strategies, treatments, and guidelines for management.