Key result
Homozygous Familial Hypercholesterolemia is a genetic disease diagnosed by persistent high LDL and xanthomas, requiring lifestyle modifications and medical therapy.
Case Report
Homozygous Familial Hypercholesterolemia is a genetic disease characterized by high LDL, xanthomas, and early CAD, requiring lifestyle modifications and medical therapy.
Supports clinical awareness of HoFH; leaves open questions on novel therapies from case-level data.
Familial hypercholesterolemia (FH) is a genetic disease presented by high levels of serum low density lipoprotein (LDL), xanthomas and early coronary artery disease (CAD). The diagnosis of Homozygous Familial Hypercholesterolemia (HoFH) is based on a family history of elevated cholesterol, persistent high LDL levels despite maximum medical treatment and the development of xanthomas and early atherosclerotic cardiac lesions such as aortic stenosis. Management of HoFH patients requires lifestyle modifications and medical therapy
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Vinod Kumar Khurana (2014) conducted a case report in Homozygous Familial Hypercholesterolemia. Homozygous Familial Hypercholesterolemia is a genetic disease diagnosed by persistent high LDL and xanthomas, requiring lifestyle modifications and medical therapy.
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