Results 31 to 40 of about 12,349 (241)

Brazilian guidelines for the diagnosis and treatment of hereditary angioedema

Clinics, 2011
Hereditary angioedema is an autosomal dominant disease characterized by edema attacks with multiple organ involvement. It is caused by a quantitative or functional deficiency of the C1 inhibitor, which is a member of the serine protease inhibitor family.
Pedro Giavina-Bianchi, Alfeu T. França, Anete S. Grumach, Abílio A Motta, Fátima R Fernandes, Regis A. Campos, Solange O Valle, Nelson A Rosário, Dirceu Sole   +8 more
doaj   +1 more source

WAO guideline for the management of hereditary angioedema [PDF]

, 2012
Hereditary Angioedema (HAE) is a rare disease and for this reason proper diagnosis and appropriate therapy are often unknown or not available for physicians and other health care providers.
Aygören-Pürsün, Emel, Bork, Konrad, Bowen, Tom, Boysen, Henrik B., Craig, Timothy, Farkas, Henriette, Grumach, Anete, Katelaris, Constance H., Lockey, Richard, Longhurst, Hilary, Lumry, William, Magerl, Markus, Martinez-Saguer, Immaculada, Maurer, Marcus, Nast, Alexander, Pawankar, Ruby, Ritchie, Bruce, Zuraw, Bruce   +17 more
core   +1 more source

Prevalence of autoantibodies in a group of hereditary angioedema patients Prevalência de autoanticorpos em uma população com angioedema hereditário

Anais Brasileiros de Dermatologia, 2012
Hereditary Angioedema is a dominantly inherited disease. Routine screening of autoantibodies (AAB) is not recommended for individuals with Hereditary Angioedema; however, prevalence of these antibodies in Hereditary Angioedema patients is not well ...
Sergio Duarte Dortas Junior, Solange Oliveira Rodrigues Valle, Soloni Afra Pires Levy, Rosangela P. Tortora, Augusto Tiaqui Abe, Gisele Viana Pires, José Angelo de Souza Papi, Alfeu Tavares França   +7 more
doaj   +1 more source

Pathophysiology of Hereditary Angioedema [PDF]

Pediatric Allergy, Immunology, and Pulmonology, 2014
The genetic deficiency of the C1 inhibitor is responsible for hereditary angioedema (HAE), which is a disease transmitted as an autosomal dominant trait. More than 200 point mutations in the C1 inhibitor gene have been found to be associated with HAE. Patients with this disease suffer from recurrent angioedema, which is mediated by bradykinin derived ...
S. Caccia, C. Suffritti, M. Cicardi
openaire   +2 more sources

Mutational spectrum and genotype-phenotype relationships in a cohort of Romanian hereditary angioedema patients caused by C1 inhibitor deficiency

Romanian Journal of Laboratory Medicine, 2019
Background: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) caused by SERPING1 mutations is a rare monogenic disorder characterized by a high frequency of de novo mutations, allelic heterogeneity and populational differences.
Gábos Gabriella, Moldovan Dumitru, Dobru Daniela, Mihály Enikő, Bara Noémi, Nădășan Valentin, Hutanu Adina, Csép Katalin   +7 more
doaj   +1 more source

Hereditary angioedema may not be the only cause of abdominal pain in patients with hereditary angioedema!

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2016
Abdominal pain is one of the basic clinical presentations of the hereditary angioedema and danazol is a common medicine which has been used for long years in patients with hereditary angioedema.
Ozgur Kartal, Sevket Arslan, Mustafa Gulec, Ahmet Zafer Caliskaner, Abdullah Baysan, Nail Ersoz, Ugur Musabak, Osman Sener   +7 more
doaj   +1 more source

Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation

Journal of Medical Internet Research, 2020
BackgroundHereditary angioedema is a rare genetic condition caused by C1 esterase inhibitor deficiency, dysfunction, or kinin cascade dysregulation, leading to an increased bradykinin plasma concentration.
Mendoza-Alvarez, Alejandro, Muñoz-Barrera, Adrián, Rubio-Rodríguez, Luis Alberto, Marcelino-Rodriguez, Itahisa, Corrales, Almudena, Iñigo-Campos, Antonio, Callero, Ariel, Perez-Rodriguez, Eva, Garcia-Robaina, Jose Carlos, González-Montelongo, Rafaela, Lorenzo-Salazar, Jose Miguel, Flores, Carlos   +11 more
doaj   +1 more source

Hereditary angioedema (HAE) in children and adolescents : a consensus on therapeutic strategies [PDF]

, 2012
Hereditary angioedema due to C1 inhibitor (C1 esterase inhibitor) deficiency (types I and II HAE-C1-INH) is a rare disease that usually presents during childhood or adolescence with intermittent episodes of potentially life-threatening angioedema ...
Aberer, Werner, Eberl, Wolfgang, Faßhauer, Maria, Kreuz , Wolfhart, Kurnik, Karin, Kühne, Thomas, Magerl, Markus, Martinez Saguer, Inmaculada, Meyer-Olson, Dirk, Späth, Peter J., Staubach-Renz, Petra, Wahn, Volker   +11 more
core   +1 more source

Patient-reported Outcome Measures for Angioedema: A Literature Review

Acta Dermato-Venereologica, 2021
Angioedema and hereditary angioedema are characterized by swelling of the subcutaneous and/or submucosal tissue, resulting in localized oedema. The rarity, but also the diverse clinical presentation, of these conditions can be challenging regarding ...
Anna Trier Heiberg Brix, Henrik Balle Boysen, Karsten Weller, Teresa Caballero, Anette Bygum   +4 more
doaj   +1 more source

On demand treatment and home therapy of hereditary angioedema in Germany - the Frankfurt experience [PDF]

, 2010
Background: Manifestation of acute edema in hereditary angioedema (HAE) is characterized by interindividual and intraindividual variability in symptom expression over time. Flexible therapy options are needed.
Aygören-Pürsün, Emel, Martinez Saguer, Inmaculada, Rusicke, Eva, Klingebiel, Thomas, Kreuz, Wolfhart   +4 more
core   +2 more sources