Massive Cutaneous Xanthomas and Critical Triple-Vessel Coronary Artery Disease From Familial Hypercholesterolemia in a 40-Year-Old Woman

TL;DR

A 40-year-old woman with undiagnosed familial hypercholesterolemia developed severe heart disease and skin growths due to high cholesterol.

Contribution

Highlights the challenges of diagnosing and managing familial hypercholesterolemia in resource-limited settings.

Findings

Patient had critical triple-vessel coronary artery disease and severe hypercholesterolemia.

Physical signs included massive xanthomas and a family history of early heart attack.

Treatment included statins and surgery, but PCSK9 inhibitors were unaffordable.

Abstract

Familial hypercholesterolemia is a monogenic inherited disorder of lipoprotein metabolism that often remains undiagnosed, primarily due to a lack of awareness rather than its rarity. We report the case of a 40-year-old unmarried woman who presented with worsening symptoms of exertional angina over six months. Physical examination revealed large xanthomas involving the dorsal aspect of both hands and feet and the extensor aspect of both knees and elbows and buttocks and a necklace-like lesion over the neck and upper chest, which had developed since her mid-20s. Her past and family history were suggestive, as her father had succumbed to myocardial infarction at 43 years of age. Laboratory evaluation demonstrated severe hypercholesterolemia with a total cholesterol of 485 mg/dl and low-density lipoprotein cholesterol of 398 mg/dl, with normal triglycerides and high-density lipoprotein cholesterol. Other systemic and metabolic parameters were within normal limits. Cardiovascular evaluation detected a soft systolic murmur, mild calcific aortic valve sclerosis, and mild aortic regurgitation, and duplex ultrasound revealed significant carotid artery stenoses. Coronary angiography demonstrated marked aortic root calcification and critical triple-vessel coronary artery disease. The diagnosis of heterozygous familial hypercholesterolemia was established clinically; genetic analysis could not be performed. The patient was advised to undergo coronary artery bypass grafting and started on high-dose rosuvastatin and ezetimibe, but could not afford proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors. This case highlights the challenges in the early diagnosis and effective management of familial hypercholesterolemia, particularly in resource-constrained settings, underscoring the need for physician awareness and family-based screening to prevent premature atherosclerotic cardiovascular disease.

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