Hereditary angioedema: Difference between revisions
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Latest revision as of 12:00, 27 August 2024
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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 the absence of urticaria and by normal levels of complement C1q and complement C1 inhibitor protein function.[7] complement C1 inhibitor protein antigen is low in type I and normal in type II.
Treatment
Options, such as complement C1 inhibitor protein concentrate, exist for preventing attacks.[8]
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.
- ↑ 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]
- ↑ Maeda S, Miyawaki T, Nomura S, Yagi T, Shimada M (2003). "Management of oral surgery in patients with hereditary or acquired angioedemas: review and case report.". Oral Surg Oral Med Oral Pathol Oral Radiol Endod 96 (5): 540-3. DOI:10.1016/S1079210403005018. PMID 14600687. Research Blogging.