Familial Hypercholesterolemia: Although Identification Advances, Appreciation and Treatment Lag

Area of Science:

• Genetics and Cardiovascular Medicine
• Metabolic Disorders

Background:

• Familial hypercholesterolemia (FH) is a prevalent autosomal dominant genetic disorder.
• Undiagnosed FH significantly elevates the risk of premature cardiovascular events.
• Understanding FH pathophysiology and cascade screening is crucial for patient management.

Purpose of the Study:

• To highlight the importance of diagnosing and treating Familial Hypercholesterolemia.
• To emphasize the role of cascade screening in identifying affected individuals.
• To discuss current and emerging therapeutic strategies for FH.

Main Methods:

• Review of current literature on FH pathophysiology and genetics.
• Analysis of treatment guidelines for heterozygous FH.
• Discussion of challenges in accessing advanced therapies like PCSK9 inhibitors.

Main Results:

• FH is frequently undiagnosed despite its high prevalence.
• Statins are the primary treatment, but many patients need additional therapies.
• Proprotein convertase subtilisin/kexin type 9 (PCSK9) antibodies are effective but access is limited.

Conclusions:

• Early diagnosis and cascade screening are essential for FH management.
• A multi-faceted therapeutic approach, including PCSK9 inhibitors, is often necessary.
• Improving access to advanced FH treatments remains a critical clinical challenge.