| Hypobetalipoproteinemia | |
|---|---|
| Specialty | Endocrinology  |
Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B, below the 5th percentile. 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 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.
Presentation
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Causes
One form is thought to be caused by mutated apolipoprotein B.
Another form is associated with microsomal triglyceride transfer protein which causes abetalipoproteinemia.
A third form, chylomicron retention disease (CRD), is associated with SARA2.
Diagnosis
Typically in hypobetalipoproteinemia, plasma cholesterol levels will be around 80–120 mg/dL, LDL cholesterol will be around 50–80 mg/dL.
Treatment
Early high doses of vitamin E in infants and children has shown to be effective.
References
- Schonfeld G, Lin X, Yue P (June 2005). "Familial hypobetalipoproteinemia: genetics and metabolism". Cell. Mol. Life Sci. 62 (12): 1372–8. doi:10.1007/s00018-005-4473-0. PMC 11139194. PMID 15818469. S2CID 9054743.
- Schonfeld G (May 2003). "Familial hypobetalipoproteinemia: a review". J. Lipid Res. 44 (5): 878–83. doi:10.1194/jlr.R300002-JLR200. 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. doi:10.1056/NEJM198906153202407. 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:10.1016/j.atherosclerosis.2007.05.003. PMID 17570373.
- Zamel, Rola; Khan, Razi; Pollex, Rebecca L.; Hegele, Robert A. (2008-07-08). "Abetalipoproteinemia: two case reports and literature review". Orphanet Journal of Rare Diseases. 3: 19. doi:10.1186/1750-1172-3-19. ISSN 1750-1172. PMC 2467409. PMID 18611256.
External links
| Classification | D |
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| External resources |
| Inborn error of lipid metabolism: dyslipidemia | |||||
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| Hyperlipidemia | |||||
| Hypolipoproteinemia |
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| Lipodystrophy | |||||
| Other | |||||