National survey on clinical and genetic characteristics of patients with hereditary angioedema in Latvia.

ABSTRACT:

Background

Hereditary angioedema (HAE) is a rare and life-threatening inborn error of immunity. HAE is mostly caused by pathogenic variations in the serine protease inhibitor gene 1 (SERPING1), leading to deficient or dysfunctional C1-inhibitor (C1-INH), overproduction of bradykinin, and development of recurrent subcutaneous and/or submucosal oedema. The prevalence of HAE is 1 in 50,000 - 100000 people worldwide. We aimed to describe the clinical features and genetic spectrum of hereditary angioedema with C1-INH deficiency (C1-INH-HAE) in Latvia.

Methods

All patients from Latvia diagnosed with HAE (types I/II) from 2006 to March 2022 were included in the study. Laboratory tests and clinical data were analysed, and genetic tests with Sanger sequencing and whole genome sequenc

SUBMITTER: Kanepa A 

PROVIDER: S-EPMC10082512 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature