Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study.

ABSTRACT:

Background

Homozygous familial hypercholesterolaemia (HoFH) is a rare inherited disorder resulting in extremely elevated low-density lipoprotein cholesterol levels and premature atherosclerotic cardiovascular disease (ASCVD). Current guidance about its management and prognosis stems from small studies, mostly from high-income countries. The 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.

Methods

The HoFH International Clinical Collaborators registry collected data on patients with a clinical, or genetic, or both, diagnosis of HoFH using a retrospective cohort study design. This trial is registered with ClinicalTrials.gov, NCT04815005.

Findings

Overa

SUBMITTER: Tromp TR 

PROVIDER: S-EPMC10544712 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature