familial ligand-defective apolipoprotein B-100

Pathology

• disorder of lipoprotein metabolism
• increased risk of coronary artery disease
• impaired clearance of LDL particles by defective LDL receptors

Genetics

• dominantly inherited
• associated with defects in APOB

Laboratory

• serum cholesterol: hypercholesterolemia (very elevated)

More general terms

• lipid metabolism, inborn error; lipid storage disease; lipidosis

Database

• OMIM: https://mirror.omim.org/entry/144010