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

Sophie Béliard1, Jean-Pierre Rabès2, Bertrand Cariou3

  • 1Aix-Marseille université, Inserm, Inra, C2VN, 13005 Marseille, France; AP-HM, La Conception Hospital, Department of Nutrition, Metabolic diseases, Endocrinology, 13005 Marseille, France.

Presse Medicale (Paris, France : 1983)
|August 1, 2018
PubMed

Insights

Familial hypercholesterolemia (FH), a common genetic disorder causing high cholesterol, is under-diagnosed and under-treated. Improved physician education and screening are crucial for early intervention and preventing cardiovascular disease.

Area of Science:

  • Cardiology
  • Genetics
  • Public Health

Background:

  • Familial hypercholesterolemia (FH) is a prevalent genetic disorder affecting 1 in 250 individuals.
  • Characterized by elevated cholesterol from birth, FH significantly increases the risk of premature cardiovascular disease (CVD).
  • Despite effective management strategies, FH remains largely under-diagnosed and under-treated, leading to preventable CVD complications.

Purpose of the Study:

  • To assess the current management practices for FH in France.
  • To identify challenges and needs in FH diagnosis and treatment among healthcare professionals.

Main Methods:

  • A survey was conducted among 495 French general practitioners (n=200) and specialists (n=295).
  • The survey focused on their approaches to managing patients with FH.

Main Results:

  • Physicians demonstrated a significant underestimation of cardiovascular risk in FH patients.
  • High levels of therapeutic inertia were observed in managing FH.
  • Practitioners expressed a clear need for enhanced information and education regarding FH.

Conclusions:

  • General practitioners play a pivotal role in identifying and managing FH due to its high prevalence and associated CVD risks.
  • Recent guidelines on family screening and FH care are expected to improve patient management.
  • Enhanced physician education and adherence to screening protocols are vital for mitigating the impact of FH.
Abstract

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