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Hypobetalipoproteinemia, endoscopic picture is characterized by a diffuse whitish pattern of the mucosa due to the accumulation of fat vesicles in the enterocytes

Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B,[1] below the 5th percentile.[2] The person can have hypobetalipoproteinemia and simultaneously have high levels of HDL cholesterol.

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.

Signs and symptoms

The presentation of Hypobetalipoproteinemia is as follows:[3]

  • Growth delay
  • Diarrhea
  • Fat malabsorption


One form is thought to be caused by mutated apolipoprotein B.[4]

Another form is associated with microsomal triglyceride transfer protein which causes abetalipoproteinemia.

A third form, chylomicron retention disease (CRD), is associated with SARA2.[5]


Typically in hypobetalipoproteinemia, plasma cholesterol levels will be around 80–120 mg/dL, LDL cholesterol will be around 50–80 mg/dL.[citation needed]


Early high doses of vitamin E in infants and children has shown to be effective.[6]


  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. S2CID 9054743.
  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. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Hypobetalipoproteinemia". www.orpha.net. Archived from the original on 24 March 2023. Retrieved 14 May 2023.
  4. 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.
  5. 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.
  6. 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

External resources