[Familial hypercholesterolemia: An under-diagnosed and under-treated disease. Survey of 495 physicians]

Abstract

Introduction: Heterozygous familial hypercholesterolemia (FH) is one of the most frequent genetic diseases with a prevalence of 1/250. It is characterized by a very high cholesterol level since birth and is often complicated by cardiovascular diseases (CV) in young patients. While early diagnosis and appropriate therapeutic management can avoid CV complications, HF is largely under-diagnosed and therefore under-treated.

Methods: To investigate the management of HF in France, we conducted a survey with 495 general practitioners (n=200) and specialists (n=295).

Results: The results revealed: a large underestimation of the CV risk and a high therapeutic inertia in the management of the affected patients. The practitioners reported a real need for more information about the disease.

Conclusion: Given the high frequency of HF and the associated cardiovascular morbidity and mortality, general practitioners have a decisive role to play for the identification and the management of these patients. The recent publication of HAS recommendations on family screening procedures and care of HF patients should improve the management of this disease.