[Familial hypercholesterolemia - do we think enough about this severe disease?]

Area of Science:

• Genetics
• Metabolic Disorders
• Cardiovascular Disease

Background:

• Familial hypercholesterolemia (FH) is the most common genetic metabolic disorder.
• It is strongly associated with premature cardiovascular disease, particularly coronary heart disease (CHD).
• Mutations in LDL receptor, APOB, or PCSK9 genes are primary causes, affecting 1:500 (heterozygous) to 1:1,000,000 (homozygous) individuals.

Purpose of the Study:

• To highlight the significance of Familial Hypercholesterolemia (FH).
• To emphasize the need for increased global awareness and early diagnosis.
• To underscore the importance of preventing cardiovascular morbidity and mortality associated with FH.

Main Methods:

• Clinical signs such as xanthomas, xanthelasmas, and corneal arcus.
• Elevated serum LDL cholesterol levels and a family history of early CHD.
• Genetic identification of causative mutations for definitive diagnosis.

Main Results:

• FH leads to significant morbidity and mortality from cardiovascular disease.
• Early diagnosis is often missed, despite predictive clinical and biochemical markers.
• Definitive diagnosis relies on identifying specific gene mutations.

Conclusions:

• Effective treatments include diet, statins, combination therapy (statins and ezetimibe), and LDL apheresis for severe cases.
• There is a critical need to raise awareness of FH globally.
• Early diagnosis and intervention are essential to reduce cardiovascular risk in FH patients.