Homozygous familiar hypercholesterolemia: still a long way to go

• Published in: The Lancet (British edition) Vol. 399; no. 10326; pp. 696 - 697
• Main Authors: Sánchez-Hernández, Rosa M, Civeira, Fernando
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 19-02-2022; Elsevier Limited
• Subjects: Arteriosclerosis; Atherosclerosis; Cardiovascular disease; Cardiovascular diseases; Children; Cholesterol; Developing countries; Heart diseases; High income; Homozygote; Humans; Hypercholesterolemia; LDCs; Life expectancy; Life span; Low density lipoprotein; Low density lipoprotein receptors; Mutation; Quality of life
• ISSN: 0140-6736; 1474-547X
• DOI: 10.1016/S0140-6736(21)02223-6

Homozygous familiar hypercholesterolemia (HoFH) is a rare condition characterised by very high levels of low-density lipoprotein cholesterol from birth and an extremely high risk of premature atherosclerotic cardiovascular disease (ACVD).1 Two pathogenic allelic variants at the LDLR, APOB, PCSK9, or LDLRAP1 gene loci are responsible for the disease.2 HoFH is a natural model showing the causal association between LDL cholesterol and ACVD, with cases of coronary disease described in childhood.3 Despite advances in the diagnosis and treatment of hypercholesterolemia in recent years, HoFH continues to be a disease with a low recognition rate in most countries, poor prognosis, low quality of life and life expectancy, and a high cost for health systems. [...]the highlighted global disparities according to the income level of the country are an important issue. [...]Tromp and colleagues reflect on the need for a multidisciplinary and multinational approach to improve the management of patients with rare diseases.