Physicians' Academy for Cardiovascular Education

Findings of a study on the largest global cohort of HoFH patients

Worldwide experience of homozygous familial hypercholesterolemia: retrospective cohort study

Literature - Tromp TR, Hartgers ML, Hovingh KH et al., - Lancet 2022; S0140-6736(21)02001-8

Introduction and methods


Studies of relatively small sample size with patients from high-income countries largely determine our view on the clinical characteristics and natural history of homozygous familial hypercholesterolemia (HoFH). There is not much known about differences worldwide in detection, management and outcomes in patients with HoFH.

Therefore, a global consortium was set up of researchers and clinicians caring for HoFH patients.


Aim of the study

To provide a contemporary, systematic assessment of the characteristics, diagnosis, treatment and outcomes of HoFH patients, on a global scale and by country income status.


Study design

The HoFH International Clinical Collaborators (HICC) is a global consortium of clinicians and researchers that take care of patients with HoFH. Eligible patients for the registry had a clinical or genetic diagnosis of HoFH.

Patients with HoFH who were alive and being followed up in of after 2010 were eligible for the study. Definition of baseline was the point at which HoFH was diagnosed. Individual-level data on 751 patients from 38 countries were available, with 20 countries classified as high-income, 12 as upper-middle-income and 6 as lower-middle-income countries (latter two are referred to as non-high-income countries).

Main outcomes

Major adverse cardiovascular events (MACE), a composite of CV death, non-fatal MI, percutaneous coronary intervention (PCI) and coronary artery bypass grafting (CABG).

Main results



LDL-c levels

CV outcomes


This study on the largest global cohort of HoFH patients highlights that patients with HoFH require early diagnosis, and early and intensive treatment with lipid lowering drugs to prevent CV outcomes. Global disparities in diagnosis and treatment of HoFH patients result in differences in care and outcomes of these patients.

The authors conclude: “As the greatest global burden resides in non-high income countries, a critical reappraisal of health-care policy and funding is required at a global level to improve health outcomes for all patients with HoFH”.

Find this article online at The Lancet

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