[Sudden unexpected cardiac death in an 18-year-old female with familial hypercholesterolaemia]

Area of Science:

• Cardiology
• Genetics
• Metabolic Disorders

Background:

• Familial hypercholesterolaemia (FH) is an inherited lipid disorder affecting approximately 1 in 500 individuals.
• It is characterized by significantly elevated low-density lipoprotein cholesterol (LDL-C) levels from birth.
• FH is a major cause of premature atherosclerotic cardiovascular disease but remains underdiagnosed.

Observation:

• This report details the case of an 18-year-old woman with undiagnosed, untreated FH.
• She experienced a sudden cardiac death attributed to acute myocardial infarction.
• Her presentation highlights the severe, life-threatening consequences of untreated FH at a young age.

Findings:

• Patients with FH commonly develop atherosclerotic manifestations early in life.
• A high P-LDL-C level, specifically above 5 mmol/l (or 4 mmol/l for individuals under 16), should raise suspicion for FH.
• This case underscores the critical link between elevated LDL-C and early-onset cardiovascular events.

Implications:

• Prompt diagnosis of FH is essential to prevent premature cardiovascular events.
• Patients with suspected FH should be referred to specialized lipid clinics for comprehensive management.
• Systematic identification of affected family members is crucial for cascade screening and early intervention.