Hereditary Angioedema – Classification and Differential Diagnosis

Česká verzia

Authors: I. Krčmová
Authors place of work: Ústav klinické imunologe a alergologie, Fakultní nemocnice Hradec Králové, přednosta prof. RNDr. Ctirad Andrýs, Ph. D.
Published in the journal: Čes-slov Derm, 99, 2024, No. 3, p. 115-124
Category: Reviews (Continuing Medical Education)

Summary

Hereditary angioedema (HAE) is a rare, genetically determined disease with autosomal dominant transmission and a variable spectrum of clinical and life-threatening manifestations. In a broader context, it is an immunodeficiency disease, classified into HAE with a deficiency of C1 inhibitor (HAE-C1-INH, formerly HAE-I and HAE-II) and HAE with a normal level and function of C1 inhibitor (HAE nC1-INH), also referred to as HAE-III type, with mutations of another (often still unknown) type. The clinical manifestation is massive swelling of the subcutaneous tissue and/or mucous membranes due to uncontrolled activation of the complement and kinin systems. Local overproduction of bradykinin results in typical angioedema. More rarely, C1-inhibitor deficiency can arise in connection with other pathological conditions (autoimmune, lymphoproliferation, monoclonal gammopathy) – this is acquired angioedema (AAE). Angioedema induced by ACE inhibitors (AE-ACEi) is considered a separate clinical syndrome that must be distinguished from acquired angioedema. The pharmacological anamnesis is important, sartans, mTOR inhibitors, gliptins can also be risky, aliskiren, sacubitril, tissue plasminogen activator are mentioned among other drugs. The emergence of centers for the diagnosis and care of patients with HAE/AAE significantly improved the lives of these patients. Patients with atypical angioedema (predominantly of bradykinin etiology) are also sent to the centers on a consular basis.

Keywords:

hereditary angioedema – diagnosis – differential diagnosis – therapy

Zdroje

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