Hypobetalipoproteinemia: Difference between revisions
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==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. | 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]].<ref name="pmid15818469">{{cite journal| author=Schonfeld G, Lin X, Yue P| title=Familial hypobetalipoproteinemia: genetics and metabolism. | journal=Cell Mol Life Sci | year= 2005 | volume= 62 | issue= 12 | pages= 1372-8 | pmid=15818469 | doi=10.1007/s00018-005-4473-0 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15818469 }} </ref> 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. Affected individuals can be either homozygous or heterozygous, the latter being most commonly asymptomatic.<ref name="pmid15818469">{{cite journal| author=Schonfeld G, Lin X, Yue P| title=Familial hypobetalipoproteinemia: genetics and metabolism. | journal=Cell Mol Life Sci | year= 2005 | volume= 62 | issue= 12 | pages= 1372-8 | pmid=15818469 | doi=10.1007/s00018-005-4473-0 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15818469 }} </ref> | ||
==References== | ==References== | ||
Revision as of 15:28, 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.[2] 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. Affected individuals can be either homozygous or heterozygous, the latter being most commonly asymptomatic.[2]
References
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- ↑ 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.
- ↑ 2.0 2.1 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.