Prevalence, Identification, and Scouting for Familial Hypercholesterolaemia Including Registries

Area of Science:

• Genetics
• Metabolic Disorders
• Cardiovascular Health

Background:

• Familial Hypercholesterolaemia (FH) is the most prevalent inherited metabolic genetic disorder, affecting approximately 13 million individuals worldwide.
• Despite its prevalence, FH remains significantly underdiagnosed and undertreated, with most treated patients failing to meet therapeutic targets.

Purpose of the Study:

• This review focuses on clarifying diagnostic strategies for identifying patients with Familial Hypercholesterolaemia.
• The objective is to enhance the early detection of FH to implement timely preventive interventions.

Main Methods:

• A comprehensive literature search was conducted to gather relevant data on FH diagnosis and management.
• The review synthesizes existing information to provide clarity on identifying individuals with FH.

Main Results:

• Patients with FH face a substantially elevated risk of premature cardiovascular events and mortality.
• Patient registries are identified as effective tools for disease monitoring, clinical practice enhancement, and cost reduction.
• Successful national FH registries exist in several countries, and a global FH network has been established by the European Atherosclerosis Society.

Conclusions:

• The establishment and effective operation of FH registries are expected to improve diagnostic rates.
• Registries will also enhance preventive strategies and the overall management of patients with Familial Hypercholesterolaemia.
• This approach aims to improve patient outcomes and reduce the burden on healthcare systems.