Hereditary Angioedema

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Xu, C. Hereditary Angioedema. Encyclopedia. Available online: https://encyclopedia.pub/entry/4089 (accessed on 26 September 2026).

Xu C. Hereditary Angioedema. Encyclopedia. Available at: https://encyclopedia.pub/entry/4089. Accessed September 26, 2026.

Xu, Camila. "Hereditary Angioedema" Encyclopedia, https://encyclopedia.pub/entry/4089 (accessed September 26, 2026).

Xu, C. (2020, December 23). Hereditary Angioedema. In Encyclopedia. https://encyclopedia.pub/entry/4089

Xu, Camila. "Hereditary Angioedema." Encyclopedia. Web. 23 December, 2020.

Hereditary Angioedema

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/hereditary-angioedema

Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway.

genetic conditions

References

Cichon S, Martin L, Hennies HC, Müller F, Van Driessche K, Karpushova A,Stevens W, Colombo R, Renné T, Drouet C, Bork K, Nöthen MM. Increased activity ofcoagulation factor XII (Hageman factor) causes hereditary angioedema type III. AmJ Hum Genet. 2006 Dec;79(6):1098-104.
Cugno M, Zanichelli A, Foieni F, Caccia S, Cicardi M. C1-inhibitor deficiency and angioedema: molecular mechanisms and clinical progress. Trends Mol Med. 2009 Feb;15(2):69-78. doi: 10.1016/j.molmed.2008.12.001.
Dewald G, Bork K. Missense mutations in the coagulation factor XII (Hagemanfactor) gene in hereditary angioedema with normal C1 inhibitor. Biochem BiophysRes Commun. 2006 May 19;343(4):1286-9.
Gösswein T, Kocot A, Emmert G, Kreuz W, Martinez-Saguer I, Aygören-Pürsün E,Rusicke E, Bork K, Oldenburg J, Müller CR. Mutational spectrum of the C1INH(SERPING1) gene in patients with hereditary angioedema. Cytogenet Genome Res.2008;121(3-4):181-8. doi: 10.1159/000138883.
Krishnamurthy A, Naguwa SM, Gershwin ME. Pediatric angioedema. Clin RevAllergy Immunol. 2008 Apr;34(2):250-9. doi: 10.1007/s12016-007-8037-y. Review.
Martin L, Raison-Peyron N, Nöthen MM, Cichon S, Drouet C. Hereditaryangioedema with normal C1 inhibitor gene in a family with affected women and men is associated with the p.Thr328Lys mutation in the F12 gene. J Allergy ClinImmunol. 2007 Oct;120(4):975-7.
Pappalardo E, Caccia S, Suffritti C, Tordai A, Zingale LC, Cicardi M. Mutationscreening of C1 inhibitor gene in 108 unrelated families with hereditaryangioedema: functional and structural correlates. Mol Immunol. 2008Aug;45(13):3536-44. doi: 10.1016/j.molimm.2008.05.007.
Wouters D, Wagenaar-Bos I, van Ham M, Zeerleder S. C1 inhibitor: just a serineprotease inhibitor? New and old considerations on therapeutic applications of C1 inhibitor. Expert Opin Biol Ther. 2008 Aug;8(8):1225-40. doi:10.1517/14712598.8.8.1225 . Review.
Zuraw BL. Clinical practice. Hereditary angioedema. N Engl J Med. 2008 Sep4;359(10):1027-36. doi: 10.1056/NEJMcp0803977. Review.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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