Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence

K Bork, T Machnig, K Wulff, G Witzke, S Prusty… - Orphanet journal of rare …, 2020‏ - Springer
Background Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH)(HAEnCI) is
associated with skin swellings, abdominal attacks, and the risk of asphyxia due to upper …

[HTML][HTML] The genetics of hereditary angioedema: a review

R Santacroce, G D'Andrea, AB Maffione… - Journal of clinical …, 2021‏ - mdpi.com
Hereditary angioedema is a rare inherited disorder characterized by recurrent episodes of
the accumulation of fluids outside of the blood vessels, causing rapid swelling of tissues in …

[HTML][HTML] The international WAO/EAACI guideline for the management of hereditary angioedema–The 2021 revision and update

M Maurer, M Magerl, S Betschel, W Aberer… - World Allergy …, 2022‏ - Elsevier
Hereditary Angioedema (HAE) is a rare and disabling disease for which early diagnosis and
effective therapy are critical. This revision and update of the global WAO/EAACI guideline on …

Novel hereditary angioedema linked with a heparan sulfate 3-O-sulfotransferase 6 gene mutation

K Bork, K Wulff, BS Möhl, L Steinmüller-Magin… - Journal of Allergy and …, 2021‏ - Elsevier
Background Hereditary angioedema (HAE) is a potentially fatal disorder resulting in
recurrent attacks of severe swelling. It may be associated with a genetic deficiency of …

Assessment and management of disease burden and quality of life in patients with hereditary angioedema: a consensus report

K Bork, JT Anderson, T Caballero, T Craig… - Allergy, Asthma & …, 2021‏ - Springer
Background Hereditary angioedema (HAE) is a rare disease characterized by
unpredictable, potentially life-threatening attacks, resulting in significant physical and …

Definition, acronyms, nomenclature, and classification of angioedema (DANCE): AAAAI, ACAAI, ACARE, and APAAACI DANCE consensus

A Reshef, T Buttgereit, SD Betschel, T Caballero… - Journal of Allergy and …, 2024‏ - Elsevier
Background Angioedema (AE) manifests with intermittent, localized, self-limiting swelling of
the subcutaneous and/or submucosal tissue. AE is heterogeneous, can be hereditary or …

Differences and similarities in the mechanisms and clinical expression of bradykinin-mediated vs. mast cell–mediated angioedema

M Maurer, M Magerl - Clinical Reviews in Allergy & Immunology, 2021‏ - Springer
Angioedema (AE), transient localized swelling due to extravasated fluid, is commonly
classified as mast cell mediator-induced, bradykinin-mediated or of unknown cause. AE …

Mechanisms involved in hereditary angioedema with normal C1-inhibitor activity

A Shamanaev, SK Dickeson, I Ivanov, M Litvak… - Frontiers in …, 2023‏ - frontiersin.org
Patients with the inherited disorder hereditary angioedema (HAE) suffer from episodes of
soft tissue swelling due to excessive bradykinin production. In most cases, dysregulation of …

Hereditary angioedema

RG Wilkerson, JJ Moellman - … and Allergy Clinics, 2023‏ - immunology.theclinics.com
Hereditary angioedema (HAE) is a rare, potentially life-threatening genetic disorder that
presents with episodic swelling of the skin or mucosal tissue of the upper respiratory and …

The expanding spectrum of mutations in hereditary angioedema

CL Veronez, D Csuka, FR Sheikh, BL Zuraw… - The Journal of Allergy …, 2021‏ - Elsevier
The evolution in the knowledge of rare genetic diseases such as hereditary angioedema
(HAE) has increased at a parallel pace with the development of new molecular tools. The …