Familial defective apolipoprotein B-100
As an autosomal dominant disorder, familial defective apolipoprotein B-100 typically runs in families, although this diagnosis may not always be established within a family unit. Instead, there may be a high incidence of coronary artery disease or hypercholesterolemia in the family. It is estimated that approximately 0.08% of patients with hypercholesterolemia carry the defective LDL apo B-100 ligand.
Patients may be asymptomatic or can present with atherosclerotic cardiovascular events in early adulthood (third and fourth decades of life). Untreated, patients with hypercholesterolemia resulting from familiar defective apolipoprotein B-100 are at risk of early atherosclerotic cardiovascular events, such as stroke and myocardial infarction.
E78.01 – Familial hypercholesterolemia
238081000 – Familial defective apolipoprotein B-100
Differential Diagnosis & Pitfalls
- Homozygous or heterozygous familial hypercholesterolemia with different genetic mutations – LDL receptor (also referred to as apoB/E receptor) defects, PCSK9 genetic mutations
- Familial hyperapobetalipoproteinemia
- Polygenic hypercholesterolemia
- Familial dysbetalipoproteinemia
- Familial combined hyperlipidemia
- Inherited mutations of cholesterol metabolism