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Hypobetalipoproteinemia

Field	Value
name	Hypobetalipoproteinemia

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.

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

(June 2005). "Familial hypobetalipoproteinemia: genetics and metabolism". Cell. Mol. Life Sci..
Schonfeld G. (May 2003). "Familial hypobetalipoproteinemia: a review". J. Lipid Res..
Young SG. (June 1989). "Familial hypobetalipoproteinemia associated with a mutant species of apolipoprotein B (B-46)". [[N. Engl. J. Med.]].
Tarugi P. (December 2007). "Molecular diagnosis of hypobetalipoproteinemia: an ENID review". Atherosclerosis.
(2008-07-08). "Abetalipoproteinemia: two case reports and literature review". Orphanet Journal of Rare Diseases.

Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

lipid-metabolism-disorders

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