Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Book

C1 Esterase Inhibitor Deficiency(Archived)

In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
.
Affiliations
Free Books & Documents
Book

C1 Esterase Inhibitor Deficiency(Archived)

Matthew J. Kerrigan et al.
Free Books & Documents

Excerpt

Hereditary angioedema, otherwise known as C1 esterase deficiency, is defined by recurrent episodes of angioedema without urticaria or pruritus. These skin conditions typically involve the legs, hands, face, upper respiratory tract, and gastrointestinal tract. This disorder can lead to airway edema and potentially asphyxiation due to laryngeal swelling. Associated symptoms typically include abdominal pain and vomiting secondary to gastrointestinal involvement.

PubMed Disclaimer

Conflict of interest statement

Disclosure: Matthew Kerrigan declares no relevant financial relationships with ineligible companies.

Disclosure: Pratiksha Naik declares no relevant financial relationships with ineligible companies.

References

    1. Fragnan NTML, Tolentino ALN, Borba GB, Oliveira AC, Simões JA, Palma SMU, Constantino-Silva RN, Grumach AS. Hereditary angioedema with C1 inhibitor (C1-INH) deficit: the strength of recognition (51 cases). Braz J Med Biol Res. 2018 Nov 14;51(12):e7813. - PMC - PubMed
    1. Bindke G, Schorling K, Wieczorek D, Kapp A, Wedi B. [Gender aspects in angioedema]. Hautarzt. 2019 Feb;70(2):92-100. - PubMed
    1. Ivanov I, Matafonov A, Sun MF, Mohammed BM, Cheng Q, Dickeson SK, Kundu S, Verhamme IM, Gruber A, McCrae K, Gailani D. A mechanism for hereditary angioedema with normal C1 inhibitor: an inhibitory regulatory role for the factor XII heavy chain. Blood. 2019 Mar 07;133(10):1152-1163. - PMC - PubMed
    1. Mehmood A, Abdullah HMA, Inayat F, Ullah W. Wolf in the sheep's clothing: intestinal angioedema mimicking infectious colitis. BMJ Case Rep. 2018 Dec 13;11(1) - PMC - PubMed
    1. Banerji A, Riedl MA, Bernstein JA, Cicardi M, Longhurst HJ, Zuraw BL, Busse PJ, Anderson J, Magerl M, Martinez-Saguer I, Davis-Lorton M, Zanichelli A, Li HH, Craig T, Jacobs J, Johnston DT, Shapiro R, Yang WH, Lumry WR, Manning ME, Schwartz LB, Shennak M, Soteres D, Zaragoza-Urdaz RH, Gierer S, Smith AM, Tachdjian R, Wedner HJ, Hebert J, Rehman SM, Staubach P, Schranz J, Baptista J, Nothaft W, Maurer M, HELP Investigators Effect of Lanadelumab Compared With Placebo on Prevention of Hereditary Angioedema Attacks: A Randomized Clinical Trial. JAMA. 2018 Nov 27;320(20):2108-2121. - PMC - PubMed

Publication types

LinkOut - more resources