Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
ORPHA:209902· ICD-10 E78.0
Definition
A rare sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertriglyceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Semi-dominant
- Age of onset
- Adult