European Primary Care Cardiovascular Society

FH is diagnosed late and poorly managed shown in global registry study

Global perspective of familial hypercholesterolemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

Literature - EAS Familial Hypercholesterolaemia Studies Collaboration (FHCS) - The Lancet 2021, doi.org/10.1016/S0140-6736(21)01122-3

Introduction and methods

In contemporary studies, it has been estimated that familial hypercholesterolemia (FH) is twice as common as previously assumed, affecting >25 million people in the world [1]. However, estimations are that <5% of FH patients have been diagnosed [2,3].

Lack of an integrated approach has hampered efforts for a global registry on FH. The European Atherosclerosis Society (EAS) Familial Hypercholesterolemia Studies Collaboration (FHSC) [4] therefore created a global registry of patients with FH using a network of investigators (currently from 66 countries) by harmonizing and pooling regional and national data. The aim was to provide insights on detection and management of FH globally. The registry of the FHSC consists of adults and children with a clinical or genetic diagnosis of homozygous or heterozygous FH. At March 16, 2021, the registry included 61600 participants from 56 countries.

In this study, the detection and management of the adult population with probably or definite heterozygous FH (n=42167) was described in a cross-sectional assessment at the time they were entered in the registries. Those with untreated LDL-c ≥12.9 mmol/L were excluded because of likelihood of homozygous FH. Because the Netherlands contributed a large percentage of cases, separate analyses for the Netherlands and the European region excluding the Netherlands were made.

Most individuals (75.4%) were diagnosed with the DLCN criteria, the remaining with Simon-Broome criteria, MEDPED, with genetic criteria alone, or with other diagnostic systems. Most came from the Europe (82.4%) including 46.3% from the Netherlands. In the African region, 99.4% were from South Africa.

Main results

Conclusion

Findings from registry study of the FHSC in adults showed that detection of FH occurs late in life and management is poor with a high proportion of patients having LDL-c levels not below guideline-recommended targets.

The authors write: “More systematic detection of FH and greater use of combination therapy will be required to improve FH care globally.”

References

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