Hypobetalipoproteinemia: Difference between revisions
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==Overview== | ==Overview== | ||
==Historical Perspective== | |||
==Pathophysiology== | |||
===Pathogenesis=== | |||
===Genetics=== | |||
==Natural History, complications and Prognosis== | |||
==Diagnosis== | |||
===History and Physical=== | |||
===Laboratory Results=== | |||
==Treatment=== | |||
===Medical Therapy=== | |||
===Surgical Therapy=== | |||
==Prevention== | |||
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> | 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> | ||
Normotriglyceridemic hypobetalipoproteinemia, formally called normotriglyceridemic abetalipoproteinemia, is a condition characterized by absence of LDLs and apoB100 and normal triglyceride-rich lipoproteins.<ref name="pmid2909827">{{cite journal| author=Harano Y, Kojima H, Nakano T, Harada M, Kashiwagi A, Nakajima Y et al.| title=Homozygous hypobetalipoproteinemia with spared chylomicron formation. | journal=Metabolism | year= 1989 | volume= 38 | issue= 1 | pages= 1-7 | pmid=2909827 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2909827 }} </ref><ref name="pmid4031057">{{cite journal| author=Herbert PN, Hyams JS, Bernier DN, Berman MM, Saritelli AL, Lynch KM et al.| title=Apolipoprotein B-100 deficiency. Intestinal steatosis despite apolipoprotein B-48 synthesis. | journal=J Clin Invest | year= 1985 | volume= 76 | issue= 2 | pages= 403-12 | pmid=4031057 | doi=10.1172/JCI111986 | pmc=PMC423826 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4031057 }} </ref> | Normotriglyceridemic hypobetalipoproteinemia, formally called normotriglyceridemic abetalipoproteinemia, is a condition characterized by absence of LDLs and apoB100 and normal triglyceride-rich lipoproteins.<ref name="pmid2909827">{{cite journal| author=Harano Y, Kojima H, Nakano T, Harada M, Kashiwagi A, Nakajima Y et al.| title=Homozygous hypobetalipoproteinemia with spared chylomicron formation. | journal=Metabolism | year= 1989 | volume= 38 | issue= 1 | pages= 1-7 | pmid=2909827 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2909827 }} </ref><ref name="pmid4031057">{{cite journal| author=Herbert PN, Hyams JS, Bernier DN, Berman MM, Saritelli AL, Lynch KM et al.| title=Apolipoprotein B-100 deficiency. Intestinal steatosis despite apolipoprotein B-48 synthesis. | journal=J Clin Invest | year= 1985 | volume= 76 | issue= 2 | pages= 403-12 | pmid=4031057 | doi=10.1172/JCI111986 | pmc=PMC423826 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4031057 }} </ref> | ||
Revision as of 18:12, 4 November 2016
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Aravind Kuchkuntla, M.B.B.S[2]
Synonyms and keywords: Familial hypobetalipoproteinemia, FHBL, normotriglyceridemic hypobetalipoproteinemia
Overview
Historical Perspective
Pathophysiology
Pathogenesis
Genetics
Natural History, complications and Prognosis
Diagnosis
History and Physical
Laboratory Results
Treatment=
Medical Therapy
Surgical Therapy
Prevention
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]
Normotriglyceridemic hypobetalipoproteinemia, formally called normotriglyceridemic abetalipoproteinemia, is a condition characterized by absence of LDLs and apoB100 and normal triglyceride-rich lipoproteins.[3][4]
References
- ↑ 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.
- ↑ Harano Y, Kojima H, Nakano T, Harada M, Kashiwagi A, Nakajima Y; et al. (1989). "Homozygous hypobetalipoproteinemia with spared chylomicron formation". Metabolism. 38 (1): 1–7. PMID 2909827.
- ↑ Herbert PN, Hyams JS, Bernier DN, Berman MM, Saritelli AL, Lynch KM; et al. (1985). "Apolipoprotein B-100 deficiency. Intestinal steatosis despite apolipoprotein B-48 synthesis". J Clin Invest. 76 (2): 403–12. doi:10.1172/JCI111986. PMC 423826. PMID 4031057.