Key result
Homozygous familial hypercholesterolemia presents with severe multi-arterial disease and LDL-C over 700 mg/dL in adolescence.
Case Report (n=1)
This case highlights the severe clinical presentation of homozygous familial hypercholesterolemia and underscores the importance of recognizing xanthomas as a marker for increased risk of coronary atherosclerosis.
Background Homozygous Familial hypercholesterolaemia (HoFH) is a rare genetic disorder characterized by an elevated plasma concentration of low-density lipoprotein cholesterol (LDL-C) starting at birth and significantly increased risk of premature atherosclerotic cardiovascular disease. Case summary We report the case of a 16-year-old female patient, with no known consanguinity presented to our cardiology department for anginal chest pain on exertion associated with headaches. She presented with characteristic morphological features of FH. Her lipid profile revealed extremely high LDL-C levels (706 mg/dl) and such extensive arterial and cutaneous involvement. Discussion This case underscores the importance of recognizing xanthomas and their association with an increased risk of coronary atherosclerosis.
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Malak et al. (2026) conducted a case report in Homozygous Familial Hypercholesterolaemia (n=1). Homozygous Familial Hypercholesterolaemia was evaluated. A 16-year-old female with Homozygous Familial Hypercholesterolaemia presented with extremely high LDL-C levels (706 mg/dl) and extensive arterial and cutaneous involvement.
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