Publication:

Tuberous xanthoma in type 1 familial hypercholesterolemia

Familial hypercholesterolemia (FH) is a genetic disease in which there is high low‑density lipoprotein cholesterol levels due to mutation in the gene encoding the receptor for low-density lipoprotein (LDL) located on chromosome 19 and the patients are at high risk for cardiovascular disease, cerebrovascular accidents, metabolic syndrome, and premature coronary death. We present this rare genetic disorder in a 7-year-old boy. The clinicians should be aware of this condition as early diagnosis and treatment can reduce the morbidity and mortality rate associated with the condition.