Hypobetalipoproteinemia

Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B,^[1] below the 5th percentile.^[2] The patient can have hypobetalipoproteinemia and simultaneously have high levels of HDL cholesterol.

Hypobetalipoproteinemia
Specialty	Endocrinology

Notably, in people who do not have the genetic disorder hypobetalipoproteinemia, a very low cholesterol level (less than 100 mg/dl) may be a marker for poor nutrition, wasting disease, cancer, hyperthyroidism, and liver disease. In 1997 a study showed that Japanese Centenarians had tenfold increase of hypobetalipoproteinemia compared with controls.

Presentation

Causes

One form is thought to be caused by mutated apolipoprotein B.^[3]

Another form is associated with microsomal triglyceride transfer protein which causes abetalipoproteinemia.^{[citation needed]}

A third form, chylomicron retention disease (CRD), is associated with SARA2.^[4]

Diagnosis

Typically in hypobetalipoproteinemia, plasma cholesterol levels will be around 80–120 mg/dL, LDL cholesterol will be around 50–80 mg/dL.^{[citation needed]}

Treatment

Early high doses of vitamin E in infants and children has shown to be effective.^[5]