Hereditary angioedema: Difference between revisions
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'''Hereditary angioedema''' is an "inherited disorder that is characterized by subcutaneous and submucosal edema in the upper respiratory tract and gastrointestinal tract."<ref>{{MeSH}}</ref> | '''Hereditary angioedema''' ('''hereditary C1 esterase inhibitor deficiency''') is an "inherited disorder that is characterized by subcutaneous and submucosal edema in the upper respiratory tract and gastrointestinal tract."<ref>{{MeSH}}</ref> | ||
Unregulated kallikrein activation of [[bradykinin]] may cause hereditary angioedema:<ref name="pmid17559913">{{cite journal |author=Schneider L, Lumry W, Vegh A, Williams AH, Schmalbach T |title=Critical role of kallikrein in hereditary angioedema pathogenesis: a clinical trial of ecallantide, a novel kallikrein inhibitor |journal=J. Allergy Clin. Immunol. |volume=120 |issue=2 |pages=416–22 |year=2007 |month=August |pmid=17559913 |doi=10.1016/j.jaci.2007.04.028 |url=http://linkinghub.elsevier.com/retrieve/pii/S0091-6749(07)00864-0 |issn=}}</ref> | Unregulated kallikrein activation of [[bradykinin]] may cause hereditary angioedema:<ref name="pmid17559913">{{cite journal |author=Schneider L, Lumry W, Vegh A, Williams AH, Schmalbach T |title=Critical role of kallikrein in hereditary angioedema pathogenesis: a clinical trial of ecallantide, a novel kallikrein inhibitor |journal=J. Allergy Clin. Immunol. |volume=120 |issue=2 |pages=416–22 |year=2007 |month=August |pmid=17559913 |doi=10.1016/j.jaci.2007.04.028 |url=http://linkinghub.elsevier.com/retrieve/pii/S0091-6749(07)00864-0 |issn=}}</ref> | ||
* Hereditary angioedema types I and II are due to insufficient activity of [[complement C1 inhibitor protein]] (C1 esterase inhibitor).<ref>Hereditary angioedema. ({{OMIM|106100}})</ref> | * Hereditary angioedema types I and II are due to insufficient activity of [[complement C1 inhibitor protein]] (C1 esterase inhibitor).<ref>Hereditary angioedema. ({{OMIM|106100}})</ref> | ||
* Hereditary angioedema type III may due to increased activity of [[coagulation]] factor XII (Hageman factor).<ref>Hereditary angioedema, type III. ({{OMIM|610618}})</ref><ref name="pmid17186468">{{cite journal |author=Cichon S, Martin L, Hennies HC, ''et al'' |title=Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III |journal=Am. J. Hum. Genet. |volume=79 |issue=6 |pages=1098–104 |year=2006 |month=December |pmid=17186468 |pmc=1698720 |doi=10.1086/509899 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)63472-7 |issn=}}</ref><ref name="urlOMIM - ANGIOEDEMA, HEREDITARY; HAE">{{cite web |url=http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106100 |title=Angioedema, hereditary|author= |authorlink= |coauthors= |date= |format= |work= |publisher=Online Mendelian Inheritance in Man |pages= |language= |archiveurl= |archivedate= |quote= |accessdate=2008-06-16}}</ref> | * Hereditary angioedema type III may due to increased activity of [[coagulation]] factor XII (Hageman factor).<ref>Hereditary angioedema, type III. ({{OMIM|610618}})</ref><ref name="pmid17186468">{{cite journal |author=Cichon S, Martin L, Hennies HC, ''et al'' |title=Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III |journal=Am. J. Hum. Genet. |volume=79 |issue=6 |pages=1098–104 |year=2006 |month=December |pmid=17186468 |pmc=1698720 |doi=10.1086/509899 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)63472-7 |issn=}}</ref><ref name="urlOMIM - ANGIOEDEMA, HEREDITARY; HAE">{{cite web |url=http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106100 |title=Angioedema, hereditary|author= |authorlink= |coauthors= |date= |format= |work= |publisher=Online Mendelian Inheritance in Man |pages= |language= |archiveurl= |archivedate= |quote= |accessdate=2008-06-16}}</ref> | ||
==Diagnosis== | |||
Hereditary deficiency is characterized by normal levels of [[complement C1q]] and [[complement C1 inhibitor protein]] function.ref name="pmid10644276">{{cite journal |author=Markovic SN, Inwards DJ, Frigas EA, Phyliky RP |title=Acquired C1 esterase inhibitor deficiency |journal=Ann. Intern. Med. |volume=132 |issue=2 |pages=144–50 |year=2000 |month=January |pmid=10644276 |doi= |url=http://www.annals.org/cgi/pmidlookup?view=long&pmid=10644276 |issn=}}</ref> [[complement C1 inhibitor protein]] antigen is low in type I and normal in type II. | |||
==References== | ==References== | ||
<references/> | <references/> | ||
Revision as of 01:21, 19 February 2009
Hereditary angioedema (hereditary C1 esterase inhibitor deficiency) is an "inherited disorder that is characterized by subcutaneous and submucosal edema in the upper respiratory tract and gastrointestinal tract."[1]
Unregulated kallikrein activation of bradykinin may cause hereditary angioedema:[2]
- Hereditary angioedema types I and II are due to insufficient activity of complement C1 inhibitor protein (C1 esterase inhibitor).[3]
- Hereditary angioedema type III may due to increased activity of coagulation factor XII (Hageman factor).[4][5][6]
Diagnosis
Hereditary deficiency is characterized by normal levels of complement C1q and complement C1 inhibitor protein function.ref name="pmid10644276">Markovic SN, Inwards DJ, Frigas EA, Phyliky RP (January 2000). "Acquired C1 esterase inhibitor deficiency". Ann. Intern. Med. 132 (2): 144–50. PMID 10644276. [e] </ref> complement C1 inhibitor protein antigen is low in type I and normal in type II.
References
- ↑ Anonymous (2024), Hereditary angioedema (English). Medical Subject Headings. U.S. National Library of Medicine.
- ↑ Schneider L, Lumry W, Vegh A, Williams AH, Schmalbach T (August 2007). "Critical role of kallikrein in hereditary angioedema pathogenesis: a clinical trial of ecallantide, a novel kallikrein inhibitor". J. Allergy Clin. Immunol. 120 (2): 416–22. DOI:10.1016/j.jaci.2007.04.028. PMID 17559913. Research Blogging.
- ↑ Hereditary angioedema. (Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 106100. World Wide Web URL: http://omim.org/.)
- ↑ Hereditary angioedema, type III. (Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 610618. World Wide Web URL: http://omim.org/.)
- ↑ Cichon S, Martin L, Hennies HC, et al (December 2006). "Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III". Am. J. Hum. Genet. 79 (6): 1098–104. DOI:10.1086/509899. PMID 17186468. PMC 1698720. Research Blogging.
- ↑ Angioedema, hereditary. Online Mendelian Inheritance in Man. Retrieved on 2008-06-16.