Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder. The main characteristic of FH patients is markedly elevated plasma levels of low-density lipoprotein cholesterol (LDL-C) from birth, leading to visible tendon and cutaneous xanthomas, and a significantly increased risk of premature atherosclerotic cardiovascular disease (ASCVD), particularly coronary heart disease (CHD) [1].
Familial Hypercholesterolaemia (FH) presents in two forms:
· Heterozygous Familial Hypercholesterolaemia (HeFH)
· Homozygous Familial Hypercholesterolaemia (HoFH).
Heterozygous familial hypercholesterolemia (HeFH) is a common genetic disorder, with a prevalence of approximately 1 in 300 to 1 in 250 [2].
Patients typically have LDL-C levels ranging from 5 to 10 mmol/L [3], which is about twice as high as those in unaffected family members from the same family lineage.
Individuals with FH are at high risk of developing premature atherosclerotic cardiovascular disease (ASCVD), defined as onset before age 55 in men or before age 65 in women [4].
In China, it is estimated that approximately 5.6 million people have HeFH [5], yet the diagnosis rate remains below 1% [6].
Homozygous Familial Hypercholesterolemia (HoFH) is a rare disease with an estimated prevalence of 1 in 300,000 to 1 in 160,000. It is characterized by elevated levels of low-density lipoprotein cholesterol (LDL-C), premature coronary artery disease (CAD), and tendon and cutaneous xanthomas.
In most cases, LDL-C levels exceed 10 mmol/L. Without effective treatment, individuals with HoFH typically develop atherosclerotic cardiovascular disease (ASCVD) before the age of 18 and may die from coronary heart disease before age 30 [7]. In extreme cases, children as young as 5–10 years old with HoFH can suffer myocardial infarction and sudden death [8].
China is estimated to have approximately 5,000 patients with HoFH [9], yet fewer than 1,000 have been identified to date. The majority of patients remain undiagnosed and untreated.
