Therapeutic management of hereditary angioedema due to C1 inhibitor deficiency

Abstract

Hereditary angioedema (HAE) due to C1 inhibitor (C1-INH) deficiency is a rare genetic disease characterized by recurrent swellings of the subcutaneous and submucosal tissues that can manifest as cutaneous edema, abdominal pain and laryngeal edema with airway obstruction. These symptoms have a significant impact on patients’ quality of life. The reduction in C1-INH function leads to uncontrolled activation of the contact system and generation of bradykinin, the mediator of increased vascular permeability and edema formation. In the past, few treatment options were available; however, several new therapies with proven efficacy have recently become available to treat and prevent HAE attacks, such as plasma-derived and recombinant C1-INHs that replace the deficient protein, bradykinin receptor antagonist (icatibant) that blocks bradykinin activity and kallikrein inhibitor (ecallantide) that prevents bradykinin release. Such therapies can improve disease outcome. This article reviews the therapeutic management of HAE, which involves the treatment of acute attacks and prophylaxis.

Keywords::

• bradykinin receptor antagonist
• C1 inhibitor
• hereditary angioedema
• kallikrein inhibitor

Financial & competing interests disclosure

A Zanichelli is a consultant/advisor for Shire Human Genetic Therapies (HGT) Inc., CSL Behring and ViroPharma, and has been an invited speaker for Sobi. M Cicardi has consultancy agreements with Dyax, Pharming Technologies BV and Shire Human Genetic Therapies Inc., is an advisor for Dyax, Shire Human Genetic Therapies Inc. and CSL Behring, and has been an invited speaker for Dyax, Shire Human Genetic Therapies Inc., CSL Behring, Pharming and ViroPharma. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.