Seven-year clinical follow-up of a Chinese homozygous familial hypercholesterolemia child with premature xanthomas and coronary artery disease - A need for early diagnosis and aggressive treatment

摘要

Familial hypercholesterolemia (FH, OMIM #143890) is a severe autosomal dominant disorder. Patients with FH have significantly increased levels of low density lipoprotein cholesterol (LDL-C) and suffer multiple xanthomas. They are also at high risk for premature cardiovascular disease (CVD) [1]. It was believed that homozygous FH (HoFH) is very rare, affecting approximately one in one million persons worldwide. However, recent European Atherosclerosis Society (EAS) HoFH consensus suggest that the prevalence of HoFH may affect as many as 1 in 160 000-300 000 people [2]. The disorder is characterized by severe and uncontrollable hypercholesterolemia because patients lack a functional LDL receptor or its ligand or processing proteins [3].