Hypobetalipoproteinemia
Medical condition
From Wikipedia, the free encyclopedia
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.
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]