Global frequency, diagnosis, and treatment of hereditary angioedema with normal C1 inhibitor.

ABSTRACT:

Background

Hereditary angioedema (HAE) is a rare genetic disease, most frequently associated with deficiency or dysfunction in the C1 inhibitor protein. HAE with normal C1 inhibitor (HAE-nC1INH) lacks standardized diagnostic tests, limiting precise prevalence estimates and development of specific treatment guidelines.

Objective

This study sought to describe the global frequency, diagnostic pathway, and current treatment patterns of HAE-nC1INH.

Methods

Board-certified HAE-treating physicians from accredited Angioedema Centers of Reference and Excellence (ACAREs) were invited to complete a 27-item online survey between December 2022 and April 2023.

Results

Thirty physicians from 30 ACAREs across 15 countries reported a mean of 71 (range, 11-148) patients with HAE

SUBMITTER: Magerl M 

PROVIDER: S-EPMC12020835 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature