Hereditary angioedema (HAE) poses diagnostic challenges due to its episodic, non-specific symptoms and overlapping conditions. This study focuses on the genetic basis of HAE, particularly focusing on unresolved cases and those with normal …

Hereditary angioedema (HAE) and acquired C1-inhibitor deficiency (AAE-C1-INH) are orphan diseases. Berotralstat is a recently licensed long-term prophylaxis (LTP) and the first oral therapy for HAE patients. No approved therapies exist for …

Hereditary angioedema (HAE) is a rare but highly burdensome disease characterized by painful, recurrent attacks of edema that are debilitating, potentially life-threatening, and detrimental to multiple facets of quality of life (QoL) [ 1 – 7 ]. The …

Hereditary angioedema (HAE) is a rare, severely debilitating, autosomal dominant disorder that causes unpredictable attacks of subcutaneous or submucosal swelling [ 1 ]. HAE prevalence is estimated at 1:50,000 worldwide, however, there is …

Hereditary angioedema (HAE) is an inherited disorder characterized by unpredictable attacks of localized swelling in the skin and/or mucosa [ 1 , 2 ]. HAE is most frequently caused by mutations in SERPING1 , resulting in reduced production (type I …

Hereditary angioedema (HAE) is a rare genetic disorder characterized by recurrent episodes of angioedema, which often affects mucosal tissue of the skin and respiratory and gastrointestinal tracts [ 1 ]. The most common gastrointestinal …

Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterized by repetitive subcutaneous or submucosal angioedema, activation of the kinin system, and increased vascular permeability. C1-inhibitor (C1-INH) deficiency, the …

Hereditary angioedema (HAE) is a rare, autosomal disorder that manifests with unpredictable episodes of severe swelling of the skin and mucous membranes. These attacks can be highly disfiguring and range in severity from mild to—in cases of airway …

A 14-year-old African American female presented to the emergency department with spontaneous, sudden-onset lip swelling for 1 h. On examination, there was significant water-bag edema of the upper lip extending to the philtrum and premaxilla.

Hereditary angioedema (HAE) is a rare autosomal dominant genetic condition with inherited deficiency or dysfunction of C1 inhibitor due to a mutation in the SERPING1 gene. The overall prevalence of HAE is estimated to be about 1.1–1.6 per 100,000 [ …1

Hereditary angioedema (HAE), which is primarily caused by C1-inhibitor (C1-INH) deficiency (type I) or dysfunction (type II), is a rare autosomal dominant disease. The deficiency or dysfunction of C1-INH can lead to a paroxysmal increase in the …

A biomarker is a defined characteristic measured as an indicator of normal, biologic, pathogenic processes, or biological responses to an exposure or intervention. Diagnostic biomarkers are used to detect a disease or a subtype of a disease; …

Hereditary angioedema (HAE) is a rare genetic disease resulting in recurring episodes of painful swelling of the subcutaneous and submucosal tissue [ 1 ]. Attacks can affect many areas of the body. Most frequently involved are the extremities …

Hereditary angioedema (HAE) is a rare, life-threatening, autosomal dominant inborn error of immunity [ 1 , 2 ]. There are 3 types of HAE: type I (85%), II (15%), and n-C1-INH HAE, which can be distinguished by levels and functional activity of a …

Hereditary angioedema (HAE) is a rare disease characterized with recurrent swelling of subcutaneous or mucosal tissue, without pruritus or urticaria, that resolves in approximately 3 days. The disease can be presented with peripheral edema …