| Hypobetalipoproteinemia | |
|---|---|
| Classification and external resources | |
| ICD-10 | E78.6 |
| ICD-9 | 272.5 |
| eMedicine | med/1117 |
| MeSH | D006995 |
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.
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]
Typically in hypobetalipoproteinemia, plasma cholesterol levels will be around 80–120 mg/dL, LDL cholesterol will be around 50–80 mg/dL.