an inherited metabolic disorder caused by a lack or malfunction of receptors for the low-density lipoproteins that activate removal of cholesterol from the blood.
familial hypercholesterolemia n.
- Familial hyperlipoproteinemia
familial hyperlipoproteinemia n. Any of several inherited disorders of lipoprotein metabolism characterized by changes in serum concentrations of low-density lipoproteins and the lipids associated with them. For some clinical types, see under type.
- Familial hypertriglyceridemia
familial hypertriglyceridemia n.
- Familial hypertrophic cardiomyopathy
familial hypertrophic cardiomyopathy n. An inherited, often fatal, heart condition caused by a genetic defect affecting production of myosin.
- Familial intestinal polyposis
familial intestinal polyposis n.