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C1 inhibitor deficiency: consensus document

Lookup NU author(s): Dr Mario Abinun, Dr Claire Bethune, Dr Anne Fay, Angela Price, Maria Price

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Abstract

We present a consensus document on the diagnosis and management of C1 inhibitor deficiency, a syndrome characterized clinically by recurrent episodes of angio-oedema. In hereditary angio-oedema, a rare autosomal dominant condition, C1 inhibitor function is reduced due to impaired transcription or production of non-functional protein. The diagnosis is confirmed by the presence of a low serum C4 and absent or greatly reduced C1 inhibitor level or function. The condition can cause fatal laryngeal oedema and features indistinguishable from gastrointestinal tract obstruction. Attacks can be precipitated by trauma, infection and other stimulants. Treatment is graded according to response and the clinical site of swelling. Acute treatment for severe attack is by infusion of C1 inhibitor concentrate and for minor attack attenuated androgens and/or tranexamic acid. Prophylactic treatment is by attenuated androgens and/or tranexamic acid. There are a number of new products in trial, including genetically engineered C1 esterase inhibitor, kallikrein inhibitor and bradykinin B2 receptor antagonist. Individual sections provide special advice with respect to diagnosis, management (prophylaxis and emergency care), special situations (childhood, pregnancy, contraception, travel and dental care) and service specification.


Publication metadata

Author(s): Gompels MM, Lock RJ, Abinun M, Bethune CA, Davies G, Grattan C, Fay AC, Longhurst HJ, Morrison L, Price A, Price M, Watters D

Publication type: Review

Publication status: Published

Journal: Clinical and Experimental Immunology

Year: 2005

Volume: 139

Issue: 3

Pages: 379-394

ISSN (print): 0009-9104

ISSN (electronic): 1365-2249

URL: http://dx.doi.org/10.1111/j.1365-2249.2005.02726.x

DOI: 10.1111/j.1365-2249.2005.02726.x


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