Hypobetalipoproteinemia: Difference between revisions
Jump to navigation
Jump to search
m (Robot: Automated text replacement (-{{SIB}} + & -{{EH}} + & -{{EJ}} + & -{{Editor Help}} + & -{{Editor Join}} +)) |
Rim Halaby (talk | contribs) No edit summary |
||
| Line 1: | Line 1: | ||
__NOTOC__ | |||
{{SI}} | {{SI}} | ||
{{CMG}} | |||
{{SK}} Familial hypobetalipoproteinemia, FHBL | |||
==Overview== | ==Overview== | ||
Hypobetalipoproteinemia is a rare autosomal dominant genetic disorder causing abnormally low levels of LDL [[cholesterol]] and apolipoprotein B.<ref name="pmid20942659">{{cite journal| author=Musunuru K, Pirruccello JP, Do R, Peloso GM, Guiducci C, Sougnez C et al.| title=Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. | journal=N Engl J Med | year= 2010 | volume= 363 | issue= 23 | pages= 2220-7 | pmid=20942659 | doi=10.1056/NEJMoa1002926 | pmc=PMC3008575 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20942659 }} </ref> It is thought to be caused by a mutation in [[apolipoprotein B]]. The patient can have low [[LDL]] level and simultaneously have high levels of HDL cholesterol. Typically in hypobtalipoproteinemia, plasma cholesterol levels will be around 80-120 mg/dL, LDL cholesterol will be around 50-80 mg/dL, and longevity can be expected with good nutrition. | |||
Typically in hypobtalipoproteinemia, plasma cholesterol levels will be around 80-120 mg/dL, LDL cholesterol will be around 50-80 mg/dL, and longevity can be expected with good nutrition | |||
==References== | ==References== | ||
{{Lipopedia}} | |||
{{WikiDoc Sources}} | {{WikiDoc Sources}} | ||
{{WH}} | {{WH}} | ||
[[Lipopedia]] | |||
Revision as of 15:26, 17 September 2013
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Familial hypobetalipoproteinemia, FHBL
Overview
Hypobetalipoproteinemia is a rare autosomal dominant genetic disorder causing abnormally low levels of LDL cholesterol and apolipoprotein B.[1] It is thought to be caused by a mutation in apolipoprotein B. The patient can have low LDL level and simultaneously have high levels of HDL cholesterol. Typically in hypobtalipoproteinemia, plasma cholesterol levels will be around 80-120 mg/dL, LDL cholesterol will be around 50-80 mg/dL, and longevity can be expected with good nutrition.
References
Template:WikiDoc Sources Template:WH
- ↑ Musunuru K, Pirruccello JP, Do R, Peloso GM, Guiducci C, Sougnez C; et al. (2010). "Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia". N Engl J Med. 363 (23): 2220–7. doi:10.1056/NEJMoa1002926. PMC 3008575. PMID 20942659.