Vallejo-Vaz AJ, Stevens CAT, Lyons ARM, et al. - The adult population with heterozygous familial hypercholesterolaemia was characterized and the global way of its detection and management is described.

• From the European Atherosclerosis Society Familial Hypercholesterolemia Studies Collaboration (FHSC) global registry, researchers retrieved data of 42,167 adults (21,999 [53·6%] women) from 56 countries for inclusion in the study.

• The Dutch Lipid Clinic Network criteria were used in the diagnosis of 31,798 patients (75·4%), and there were 35,490 (84·2%) patients who were from the WHO region of Europe.

• Participants were of median age of 46·2 years at entry in the registry; at diagnosis of familial hypercholesterolemia, median age was 44·4 years, with 40·2% of participants younger than 40 years when diagnosed.

• Progressive increase in the prevalence of cardiovascular risk factors was observed with age and the prevalence varied by WHO region.

• Findings suggest that familial hypercholesterolemia is diagnosed late.

• Single-drug therapy results in infrequent attainment of guideline-recommended LDL cholesterol concentrations.

• Non-index cases, who were diagnosed earlier, had lower cardiovascular risk factors and presence of coronary disease.

• The global burden of familial hypercholesterolemia could be reduced by earlier detection and greater use of combination therapies.