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Unveiling 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
Hereditary Angioedema With a Normal Complement Level.
Cureus
January 2024
Paediatrics, Palestine Medical Complex, Ramallah, PSE.
Hereditary angioedema (HAE) is an uncommon autosomal dominant disorder, characterized by episodes of oropharyngeal, gastrointestinal, and subcutaneous tissue swelling, often accompanied by discomfort. HAE is primarily associated with mutations in the SERPING1 gene, resulting in insufficient levels or impaired function of C1 esterase inhibitor (C1-INH), an important regulatory protein of the complement system. While types 1 and 2 HAE are well-established entities caused by quantitative and qualitative defects in C1-INH, respectively, the emergence of type 3 HAE, also known as estrogen-dependent HAE, has expanded our understanding of this complex disorder.
View Article and Find Full Text PDFHereditary Angioedema: Diagnosis, Clinical Implications, and Pathophysiology.
Adv Ther
March 2023
Department of Anesthesiology, Louisiana State University Health Science Center at Shreveport, 1501 Kings Highway, Shreveport, LA, 71103, USA.
Hereditary angioedema (HAE) is an autosomal dominant disorder caused by a mutation in the C1 esterase inhibitor gene. HAE affects 1/50,000 people worldwide. Three main types of HAE exist: type I, type II, and type III.
View Article and Find Full Text PDFHigh Estrogen States in Hereditary Angioedema: a Spectrum.
Clin Rev Allergy Immunol
June 2021
Wright State Physicians Health Center, Department of Pharmacology & Toxicology, 725 University Blvd, Fairborn, OH, USA.
Sex differences have been well documented within hereditary angioedema (HAE) over the past several decades. Females often experience more frequent and more intense attacks compared to their male counterparts. Additionally, elevated estrogen levels-as seen in pregnancy and use of oral contraceptives-is a widely known trigger for angioedema attacks.
View Article and Find Full Text PDF[Gender aspects in angioedema].
Hautarzt
February 2019
Klinik für Dermatologie, Allergologie und Venerologie, Comprehensive Allergy Center (CAC), Medizinische Hochschule Hannover, Carl-Neuberg-Str. 1, 30625, Hannover, Deutschland.
Background: Angioedema can be triggered by mediators bradykinin or histamine. Gender-specific differences and potential biomarkers for follow-up/therapy monitoring are mostly unknown.
Objectives: To what extent are gender-related defects, prodromes, trigger factors, clinical parameters such as number of attacks, frequency, localization, laboratory values, hormones and response to therapy different for the variant types of angioedema.
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