familial hypercholesterolemia

info · Genetic · ICD-10: E78.01

A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.

Signs and symptoms

Corneal arcus
Elevated circulating LDL-C concentration
Tendon xanthomatosis
Xanthelasma
Coronary artery atherosclerosis

Medications that may treat it

bempedoic acid ezetimibe

Also known as: Fredrickson type IIa hyperlipoproteinemia; Fredrickson type IIa lipidaemia; familial hyperbetalipoproteinaemia; familial hypercholesteremia; hyperbetalipoproteinemia