Familial hypercholesterolemia: A review

Area of Science:

• Cardiovascular Medicine
• Genetics
• Metabolic Disorders

Background:

• Familial hypercholesterolemia (FH) is an inherited disorder of lipoprotein metabolism.
• It leads to significantly elevated serum low-density lipoprotein (LDL) cholesterol levels.
• This elevates the risk of premature cardiovascular diseases (CVDs).

Purpose of the Study:

• To review screening, diagnosis, and management strategies for FH.
• To highlight challenges in achieving lipid goals, particularly in children.
• To discuss current and emerging treatment options for FH patients.

Main Methods:

• Review of current literature on FH diagnosis and treatment.
• Analysis of clinical guidelines and therapeutic approaches.
• Discussion of genetic testing's role in diagnosis.

Main Results:

• Diagnosis relies on clinical features, family history, and LDL-cholesterol levels, enhanced by genetic testing.
• Statins are the primary treatment, supplemented by newer drugs and LDL apheresis for difficult cases.
• Despite advances, many children with FH do not reach lipid targets due to diagnostic and treatment gaps.

Conclusions:

• Early identification and intervention are critical for managing FH and reducing CVD risk.
• While treatments have improved prognosis, especially for heterozygous FH, persistent challenges in pediatric care require attention.
• Comprehensive management strategies are essential for optimizing outcomes in all FH patients.