Hereditary Angioedema: Implications of Management

Abstract

Hereditary angioedema (HAE) is a genetic condition that is characterized by frequent episodes of localized angioedema. It is a rare disorder that a primary care provider, otolaryngologist, dermatologist, or rheumatologist may encounter only occasionally. This disease is being reviewed because of the significant advances in further understanding the genetics, biology, and therapeutic management surrounding the condition. Histamine-mediated angioedema responds to steroids, antihistamines, and epinephrine, whereas bradykinin-mediated angioedema is resistant to those interventions and requires specialized therapy. Previously used medications have significant adverse effects. Approved medications for HAE have been effective in decreasing morbidity and mortality in patients with this condition. We review the presentation, diagnosis, and available pharmaceutical options for HAE and explore the limitations of implementing recommended therapy.

Pregnancy-Induced Exacerbation of Hereditary Angioedema in a Multiparous Caucasian Female

“…Chen and Riedl in 2018 describe new therapeutic innovations for the treatment of HAE including subcutaneous C1-esterase inhibitor concentrates, monoclonal antibody inhibitor of kallikrein, oral kallikrein inhibitors, ribonucleic acid (RNA) targeted antisense against pre-kallikrein, RNA interference drugs against factor XII, monoclonal antibody inhibitor of factor XIIa, and gene therapy. These advances in treatments could potentially be applied to patients in pregnancy, but more research should be conducted before medications like this are prescribed [1,6].…”

“…C1-esterase inhibitor is a serine protease inhibitor that serves various functions in the fibrinolysis, complement, and contact systems. C1-esterase inhibitor prevents complement fixation and contacts plasma cascades to reduce bradykinin levels [1][2][3][4][5][6][7]. High levels of bradykinin cause vasodilation and increase vascular permeability, drawing vascular fluid into the subcutaneous space, leading to angioedema.…”

“…These episodes can be life-threatening and potentially fatal. A rapid and accurate diagnosis is required because patients do not respond to the typical medications prescribed for the more common histamine-mediated angioedema [6,7]. However, there is limited information regarding the diagnosis and management of HAE in pregnant women.…”