Hypobetalipoproteinemia: Difference between revisions
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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> | ||
<ref name="pmid164511">{{cite journal| author=Biemer JJ, McCammon RE| title=The genetic relationship of abetalipoproteinemia and hypobetalipoproteinemia: a report of the occurence of both diseases within the same family. | journal=J Lab Clin Med | year= 1975 | volume= 85 | issue= 4 | pages= 556-65 | pmid=164511 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=164511 }} </ref> | |||
==References== | ==References== | ||
Revision as of 18:26, 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
FHBL; OMIM 107730, OMIM 615558
Historical Perspective
Pathophysiology
Pathogenesis
Genetics
- Mutation in the APOB gene (107730) on chromosome 2p24.
- Familial hypobetalipoproteinemia-2 (FHBL2; 605019) is caused by mutation in the ANGPTL3 gene (604774) on chromosome 1p31.
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.
- ↑ Biemer JJ, McCammon RE (1975). "The genetic relationship of abetalipoproteinemia and hypobetalipoproteinemia: a report of the occurence of both diseases within the same family". J Lab Clin Med. 85 (4): 556–65. PMID 164511.