Hereditary angioedema

From Citizendium, the Citizens' Compendium

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.

References

1. ↑ Anonymous, (2009) Hereditary angioedema (English). Medical Subject Headings. U.S. National Library of Medicine.
2. ↑ 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.
3. ↑ Hereditary angioedema. (Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: 106100. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/)
4. ↑ Hereditary angioedema, type III. (Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: 610618. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/)
5. ↑ 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.
6. ↑ Angioedema, hereditary. Online Mendelian Inheritance in Man. Retrieved on 2008-06-16.
7. ↑ Markovic SN, Inwards DJ, Frigas EA, Phyliky RP (January 2000). Acquired C1 esterase inhibitor deficiency. Ann. Intern. Med. 132 (2): 144–50. PMID 10644276.