Hypobetalipoproteinemia
| Hypobetalipoproteinemia | |
|---|---|
| Classification and external resources | |
| Specialty | endocrinology |
| ICD-10 | E78.6 |
| ICD-9-CM | 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.
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.
A third form, chylomicron retention disease (CRD), is associated with SARA2.[4]
Laboratory results
Typically in hypobetalipoproteinemia, plasma cholesterol levels will be around 80–120 mg/dL, LDL cholesterol will be around 50–80 mg/dL.
References
- ↑ Schonfeld G, Lin X, Yue P (June 2005). "Familial hypobetalipoproteinemia: genetics and metabolism". Cell. Mol. Life Sci. 62 (12): 1372–8. PMID 15818469. doi:10.1007/s00018-005-4473-0.
- ↑ Schonfeld G (May 2003). "Familial hypobetalipoproteinemia: a review". J. Lipid Res. 44 (5): 878–83. PMID 12639976. doi:10.1194/jlr.R300002-JLR200.
- ↑ Young SG, Hubl ST, Chappell DA, et al. (June 1989). "Familial hypobetalipoproteinemia associated with a mutant species of apolipoprotein B (B-46)". N. Engl. J. Med. 320 (24): 1604–10. PMID 2725600. doi:10.1056/NEJM198906153202407.
- ↑ Tarugi P, Averna M, Di Leo E, et al. (December 2007). "Molecular diagnosis of hypobetalipoproteinemia: an ENID review". Atherosclerosis. 195 (2): e19–27. PMID 17570373. doi:10.1016/j.atherosclerosis.2007.05.003.