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Classification and external resources
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.


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.


  1. ^ Schonfeld G, Lin X, Yue P (June 2005). "Familial hypobetalipoproteinemia: genetics and metabolism". Cell. Mol. Life Sci. 62 (12): 1372–8.  
  2. ^ Schonfeld G (May 2003). "Familial hypobetalipoproteinemia: a review". J. Lipid Res. 44 (5): 878–83.  
  3. ^ Young SG, Hubl ST, Chappell DA, et al. (June 1989). "Familial hypobetalipoproteinemia associated with a mutant species of apolipoprotein B (B-46)".  
  4. ^ Tarugi P, Averna M, Di Leo E, et al. (December 2007). "Molecular diagnosis of hypobetalipoproteinemia: an ENID review". Atherosclerosis 195 (2): e19–27.  
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