Homozygous familiar hypercholesterolemia in China: Case series from the national lipid clinics and literature review

Objective Familial hypercholesterolemia (FH), an autosomal dominant genetic disorder, is often diagnosed in young age and cholesterol accumulation in tissues produces common clinical manifestations including cutaneous xanthomas, premature atherosclerosis, and poor response to medical therapy. The main objective was to investigate the patients of hoFH from China. Patients Over the past 4 years, a cohort of 8 patients with severe FH phenotype due to the characteristic cutaneous xanthomas and extremely high low density lipoprotein cholesterol (LDL-C) levels from the national lipid clinics were enrolled. Genotype information was obtained. Results Of them, 7 patients had severe coronary atherosclerosis, 6 had family history of hypercholesterolemia, 2 had family history of premature coronary atherosclerosis. The patients had untreated LDL-C of > 13 mmol/L, and received maximal medical therapy. Importantly but not surprisingly, the lipid profile was not significantly improved by the current available concomitant use of rosuvastatin and ezetimibe. In genetic analysis, all patients had the mutations responsible to the FH phenotype and showed to be more heterogeneous than their clinical phenotype. Conclusion In a conclusion, we found a relatively common recruitment of this type of patients in our hospital, which might have an important clinical implication for the identification and management of the patients with FH in China.