Refers to a disorder consisting of low levels of LDL cholesterol or apolipoprotein B, below the 5th percentile.

The patient can have hypobetalipoproteinemia and simultaneously have high levels of HDL cholesterol.

In individuals who do not have the genetic disorder hypobetalipoproteinemia, a low cholesterol level may be a marker for poor nutrition, wasting disease, cancer, hyperthyroidism, and liver disease.

One form of hypobetalipoproteinemia thought to be caused by mutated apolipoprotein B.

Another form of hypobetalipoproteinemia is associated with microsomal triglyceride transfer protein which causes abetalipoproteinemia.

A third form, chylomicron retention disease (CRD), is associated with SARA2.

Typically,plasma cholesterol levels will be around 80–120 mg/dL, LDL cholesterol will be around 50–80 mg/dL.

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

Leave a Reply

Your email address will not be published. Required fields are marked *