Hypobetalipoproteinemia

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
SpecialtyEndocrinology 

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]

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.[5]

References
  1. 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. PMID 15818469.
  2. Schonfeld G (May 2003). "Familial hypobetalipoproteinemia: a review". J. Lipid Res. 44 (5): 878–83. doi:10.1194/jlr.R300002-JLR200. PMID 12639976.
  3. 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.
  4. 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.
  5. 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.
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