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Abstract

July - September 2023 | Vol. 16 | Issue 3 | 08-13
Therapeutic Modalities for Hereditary Angioedema: An Update
Rani Manisha, Shubha R Phadke
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
Address for Correspondence Email: shubharaophadke@gmail.com
 
Abstract
Hereditary angioedema is an autosomal dominant disorder presenting as intermittent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction. Most of the cases are caused by pathogenic variants in the SERPING1 gene. Other genes contribute to a small number of cases. Mutations in the SERPING1 gene result in deficiency or altered function of plasma C1 esterase inhibitor (C1 INH), a serine protease inhibitor that normally inhibits proteases in the contact, complement, and fibrinolytic systems. The increased vascular permeability leading to edema is mediated through increased levels of bradykinin. The unravelling of the pathophysiology and mechanism involved in swelling associated with hereditary angioedema (HAE) resulted in the development of therapeutic options for the acute attacks and prophylactic treatment of patients with HAE. Here we present a brief review of the past treatments, current treatment options and potential future treatment modalities for HAE.
 
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