Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B, below the 5th percentile. [1 ] The patient can have hypobetalipoproteinemia and simultaneously have high levels of [2 ] HDL cholesterol.
Notably, in people 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 is thought to be caused by mutated
apolipoprotein B. [3 ]
Another form is associated with
microsomal triglyceride transfer protein which causes abetalipoproteinemia.
A third form,
chylomicron retention disease (CRD), is associated with SARA2. [4 ]
Laboratory results [ edit ]
Typically in hypobetalipoproteinemia, plasma cholesterol levels will be around 80–120 mg/dL, LDL cholesterol will be around 50–80 mg/dL.
References [ edit ]