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| Hypobetalipoproteinemia Classification and external resources |
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| 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.
Causes
One form is thought to be caused by mutated apolipoprotein B.[3]
Another form is associated with microsomal triglyceride transfer protein.
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.citation needed
References
- ^ Schonfeld G, Lin X, Yue P (June 2005). "Familial hypobetalipoproteinemia: genetics and metabolism". Cell. Mol. Life Sci. 62 (12): 1372–8. doi:. PMID 15818469.
- ^ Schonfeld G (May 2003). "Familial hypobetalipoproteinemia: a review". J. Lipid Res. 44 (5): 878–83. doi:. PMID 12639976.
- ^ 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.
- ^ Tarugi P, Averna M, Di Leo E, et al (December 2007). "Molecular diagnosis of hypobetalipoproteinemia: an ENID review". Atherosclerosis 195 (2): e19–27. doi:. PMID 17570373.
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