Worldwide experience of homozygous FH (HoFH): retrospective cohort study

Tromp TR, et al., published a retrospective global cohort study about HoFH patients. HoFH is a rare inherited disorder resulting in extremely elevated LDL-C levels and premature atherosclerotic cardiovascular disease. Objective of this study was to assess the clinical and genetic characteristics, as well as the impact, of current practice on health outcomes of HoFH patients globally. The HoFH International Clinical Collaborators registry collected data on patients with a clinical, genetic and diagnosis of HoFH using a retrospective cohort study design. Overall, 751 patients from 38 countries were included, with 565 (75%) reporting pathogenic variants. The median age of diagnosis was 12.0 years (IQR 5·5–27·0) years. Of the 751 patients, 389 (52%) were female and 362 (48%) were male.