Therapeutic management of hereditary angioedema: past, present, and future

Abstract

Hereditary angioedema is a rare disease that can often be disabling or even life threatening because of the unpredictable, self-limiting, and localized swelling episodes involving cutaneous, subcutaneous, and mucosal sites. The last decades revealed a spectrum of possibilities to control the disease through the development of effective therapies that changed the life of many patients and families worldwide. This review summarizes the current literature regarding the general management and therapeutic approach in patients with hereditary angioedema, both with and without C1 inhibitor deficiency. Medications already available in the market and new drugs in different research stages of development are addressed. Recent decades saw a huge leap in identifying mechanisms of angioedema and developing modern safe and effective medications to both treat acute angioedema manifestations and control disease activity via prophylactic therapy. Further improvement is still needed, together with improving global accessibility of diagnostic tools and effective medications. Whether novel drugs will demonstrate a sustained cost/effectiveness ratio will be answered in the years to come when we will witness whether a majority of the patients will benefit from these major advances.

FIG. 1

Genotypes of hereditary angioedema. HAE, hereditary angioedema; C1-INH, C1 inhibitor; F12, factor 12 gene; ANGPT1, angiopoietin-1 gene; PLG, plasminogen gene; KNG1, kininigen-1 gene; MYOF, myoferlin gene; HS3OST6, heparan sulfate glucosamine 3-O-sulfotransferase 6 gene; U-HAE, unknown HAE.