[Severe coronary artery disease in premenopausal woman with familial hypercholesterolaemia]

Area of Science:

• Cardiology
• Genetics
• Metabolic Disorders

Background:

• Familial hypercholesterolemia (FH) is an underdiagnosed genetic disorder leading to premature cardiovascular disease.
• Severe hypercholesterolemia significantly increases the risk of atherosclerosis and acute coronary events.
• Premenopausal women with FH represent a unique patient population requiring specific clinical attention.

Observation:

• A 51-year-old premenopausal woman, a long-term non-smoker, presented with acute coronary syndrome (ACS).
• Severe two-coronary artery disease was diagnosed, with severe hypercholesterolemia identified as the primary risk factor.
• The initial clinical diagnosis of familial hypercholesterolemia was made concurrently with the ACS diagnosis.

Findings:

• The patient's cardiovascular condition was predominantly linked to severe hypercholesterolemia, indicative of familial hypercholesterolemia.
• A multi-faceted lipid-lowering pharmacotherapy regimen was initiated.
• The complex therapeutic approach resulted in a satisfactory reduction in lipid levels.

Implications:

• This case underscores the critical importance of early diagnosis and aggressive management of familial hypercholesterolemia, even in premenopausal women.
• Comprehensive lipid-lowering strategies are effective in managing severe hypercholesterolemia and its cardiovascular consequences.
• Increased awareness and screening for FH are crucial for preventing premature cardiovascular events in at-risk individuals.