A new form of hereditary angioedema (HAE) with normal C1 inhibitor (C1INH) was first described in 2000. The lack of clear diagnostic criteria, the heterogeneity among affected patients, and the varying names given to this disease have led to substantial confusion among both physicians and patients. This study was designed to bring more clarity to the diagnosis and potential treatment of HAE with normal C1INH. An international symposium of experts was convened to review the field and develop consensus opinions that could help clinicians who evaluate and manage these patients. Criteria were developed for the diagnosis of HAE with normal C1INH in patients with recurrent angioedema in the absence of concurrent urticaria. In addition, potential therapeutic strategies are discussed. The consensus criteria developed during this symposium will allow physicians to better diagnose and treat patients with HAE with normal C1INH.
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Omics analysis reveals galectin-3 to be a potential key regulator of allergic inflammation in hereditary angioedema.
J Allergy Clin Immunol Glob
February 2025
Department of Medicine, Division of Allergy, Immunology & Rheumatology, Jacobs School of Medicine and Biomedical Sciences, Clinical Translational Research Center, University at Buffalo, Buffalo, NY.
Background: Hereditary angioedema (HAE) is a rare inherited disorder that predisposes an individual to develop vasogenic edema. Bradykinin release, which increases vascular permeability, results in angioedema. C1 esterase inhibitor (C1-INH) is a major regulator of critical enzymes involved in bradykinin generation and mutations in genes that encode the C1 inhibitor of complement factor 1, which prevent its synthesis (type I HAE), form a dysfunctional protein (type II HAE), or have normal functioning C1-INH (type III HAE, aka HAE-III).
View Article and Find Full Text PDFThe international HAE guideline under real-life conditions: From possibilities to limits in daily life - current real-world data of 8 German angioedema centers.
Allergol Select
November 2024
Department of Oto-Rhino-Laryngology. Head and Neck Surgery, Ulm University Medical Center, Ulm.
Background And Objectives: Patients with rare diseases like hereditary angioedema (HAE) are usually referred to an angioedema center to ensure guideline-compliant and experience-based therapy. Even though there are established guidelines and several approved therapeutics, there are still open questions and situations in the daily care of HAE patients, where an exchange between centers is needed.
Materials And Methods: A survey was conducted among physicians from German angioedema centers regarding challenges and issues in everyday HAE treatment.
Hereditary angioedema (HAE) in children and adolescents: New treatment options.
Allergol Select
October 2024
Hannover Medical School (MHH), Department of Dermatology, Allergology and Venereology, Interdisciplinary Allergy Center of the MHH, Treatment Center for Hereditary Angioedema of the MHH, Hannover, Germany.
Article Synopsis
- Modern management of hereditary angioedema (HAE) emphasizes personalized treatment plans tailored to the needs of children and adolescents, as well as the severity of the disease.
- New medications have improved quality of life for HAE patients, but not all are approved for children, leading to ongoing research into alternative treatments such as those targeting bradykinin effects.
- Emerging options like oral medications, long-acting therapies, and potential gene therapy are being explored to better meet the care requirements for young patients with HAE type I and II.
Rare connective tissue diseases in patients with C1-inhibitor deficiency hereditary angioedema: first evidence on prevalence and distribution from a large Italian cohort study.
Front Immunol
November 2024
Department of Medicine, Azienda Ospedale-Università di Padova, Padova, Italy.
Introduction: In patients with Hereditary Angioedema (HAE) related to primary C1 inhibitor deficiency (C1INH), the defective clearance of immune complexes and apoptotic materials along with impairment of normal humoral response potentially leads to autoimmunity. Few studies report evidence on autoimmune diseases in C1INH-HAE, but no large population studies focus on rare connective tissue diseases (RCTDs). We aim at evaluating for the first time prevalence and distribution of RCTDs - Systemic Lupus Erytematosus (SLE), primary Sjogren Syndrome (SjS), primary antiphospholipid syndrome (APS), Systemic Sclerosis (SSc), and mixed connective tissue diseases (MCTD) in a large Italian cohort of C1INH-HAE patients.
View Article and Find Full Text PDFUnveiling the Complexities of Hereditary Angioedema.
Biomolecules
October 2024
Department of Dermatology, Faculty of Medicine, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.
Article Synopsis
- - Hereditary angioedema (HAE) is a rare genetic disorder affecting about 1 in 50,000 to 1 in 150,000 people globally, characterized by recurrent episodes of non-itchy swelling, without significant variation among genders or ethnicities.
- - There are three types of HAE: Type I (85% of cases) involves a deficiency in the C1 esterase inhibitor gene, Type II (15%) features dysfunctional C1-INH, and Type III (5-10%) is often estrogen-dependent with normal C1-INH levels, but all types show similar symptoms.
- - Recent advancements in understanding HAE have led to the development of targeted therapies for both immediate treatment
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