Severe polyarterial involvement in a 16-year-old with homozygous familial hypercholesterolaemia: a case report

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 a significantly increased risk of premature atherosclerotic cardiovascular disease.

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.

This case underscores the importance of recognizing xanthomas and their association with an increased risk of coronary atherosclerosis.