Hypobetalipoproteinemia: Difference between revisions
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'''Hypobetalipoproteinemia''' is a |
'''Hypobetalipoproteinemia''' is a disorder consisting of low levels of [[LDL cholesterol]] or [[apolipoprotein B]].<ref name="pmid15818469">{{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}}</ref> The patient can have hypobetalipoproteinemia and simultaneously have high levels of [[HDL cholesterol]]. |
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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. |
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. |
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==Laboratory results== |
==Laboratory results== |
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Typically in hypobetalipoproteinemia, plasma cholesterol levels will be around 80-120 mg/dL, LDL cholesterol will be around 50-80 mg/dL.{{fact}} |
Typically in hypobetalipoproteinemia, plasma cholesterol levels will be around 80-120 mg/dL, LDL cholesterol will be around 50-80 mg/dL.{{fact}} |
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==References== |
==References== |
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Revision as of 01:12, 13 May 2008
| Hypobetalipoproteinemia | |
|---|---|
| Specialty | Endocrinology  |
Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B.[1] 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.[2]
Another form is associated with microsomal triglyceride transfer protein.
A third form, chylomicron retention disease (CRD), is associated with SARA2.[3]
Laboratory results
Typically in hypobetalipoproteinemia, plasma cholesterol levels will be around 80-120 mg/dL, LDL cholesterol will be around 50-80 mg/dL.[citation needed]
References
- ^ Schonfeld G, Lin X, Yue P (2005). "Familial hypobetalipoproteinemia: genetics and metabolism". Cell. Mol. Life Sci. 62 (12): 1372–8. doi:10.1007/s00018-005-4473-0. PMID 15818469.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Young SG, Hubl ST, Chappell DA; et al. (1989). "Familial hypobetalipoproteinemia associated with a mutant species of apolipoprotein B (B-46)". N. Engl. J. Med. 320 (24): 1604–10. PMID 2725600.
{{cite journal}}: Explicit use of et al. in:|author=(help); Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Tarugi P, Averna M, Di Leo E; et al. (2007). "Molecular diagnosis of hypobetalipoproteinemia: an ENID review". Atherosclerosis. 195 (2): e19–27. doi:10.1016/j.atherosclerosis.2007.05.003. PMID 17570373.
{{cite journal}}: Explicit use of et al. in:|author=(help); Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link)
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