Hypobetalipoproteinemia

Hypobetalipoproteinemia

Infobox_Disease
Name = Hypobetalipoproteinemia


Caption =
DiseasesDB =
ICD10 = ICD10|E|78|6|e|78
ICD9 = ICD9|272.5
ICDO =
OMIM =
MedlinePlus =
eMedicineSubj = med
eMedicineTopic = 1117
MeshID = D006995

Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B,cite journal |author=Schonfeld G, Lin X, Yue P |title=Familial hypobetalipoproteinemia: genetics and metabolism |journal=Cell. Mol. Life Sci. |volume=62 |issue=12 |pages=1372–8 |year=2005 |month=June |pmid=15818469 |doi=10.1007/s00018-005-4473-0 |url=http://dx.doi.org/10.1007/s00018-005-4473-0] below the 5th percentile.cite journal |author=Schonfeld G |title=Familial hypobetalipoproteinemia: a review |journal=J. Lipid Res. |volume=44 |issue=5 |pages=878–83 |year=2003 |month=May |pmid=12639976 |doi=10.1194/jlr.R300002-JLR200 |url=http://www.jlr.org/cgi/pmidlookup?view=long&pmid=12639976] 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.

Causes

One form is thought to be caused by mutated apolipoprotein B. [cite journal |author=Young SG, Hubl ST, Chappell DA, "et al" |title=Familial hypobetalipoproteinemia associated with a mutant species of apolipoprotein B (B-46) |journal=N. Engl. J. Med. |volume=320 |issue=24 |pages=1604–10 |year=1989 |month=June |pmid=2725600 |doi= |url=]

Another form is associated with microsomal triglyceride transfer protein.

A third form, chylomicron retention disease (CRD), is associated with SARA2.cite journal |author=Tarugi P, Averna M, Di Leo E, "et al" |title=Molecular diagnosis of hypobetalipoproteinemia: an ENID review |journal=Atherosclerosis |volume=195 |issue=2 |pages=e19–27 |year=2007 |month=December |pmid=17570373 |doi=10.1016/j.atherosclerosis.2007.05.003 |url=http://linkinghub.elsevier.com/retrieve/pii/S0021-9150(07)00328-0]

Laboratory results

Typically in hypobetalipoproteinemia, plasma cholesterol levels will be around 80-120 mg/dL, LDL cholesterol will be around 50-80 mg/dL.Fact|date=May 2008

References


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