Results: 5

Hereditary angioedema. Diagnosis in an asymptomatic elderly woman

Medicina (B.Aires); 81 (4), 2021
Abstract Hereditary angioedema (HAE) is a rare disease with an autosomal dominant heredity pattern, due to mutations in the gene encoding the C1 esterase inhibitor. The onset of symptoms usually occurs during childhood. Clinically, it is characterized by repeated episodes of angioedema that may affect th...

Hereditary angioedema: a disease seldom diagnosed by pediatricians

J. pediatr. (Rio J.); 97 (supl.1), 2021
Abstract Objectives: To describe the hereditary angioedema to improve awareness of this condition and reduce diagnostic delay. Data sources: Relevant articles in the MEDLINE database through PubMed. Data synthesis: Hereditary angioedema is rare and has an autosomal dominant pattern of inheritance. Its...

Study of angiopoietin and plasminogen genes in hereditary angioedema

SUMMARY OBJECTIVE To investigate the presence of the Angiopoietin 1 (ANGPT1) and Plasminogen (PLG) mutations in patients with Hereditary Angioedema (HAE) and normal C1 esterase inhibitor (C1-INH) levels, who do not harbor the F12 gene mutation. METHODS Patients clinically diagnosed with HAE but witho...

Outcomes of long term treatments of type I hereditary angioedema in a Turkish family

An. bras. dermatol; 92 (5), 2017
Abstract: Background: Hereditary angioedema is a rare autosomal dominantly inherited immunodeficiency disorder characterized by potentially life-threatening angioedema attacks. Objective: We aimed to investigate the clinical and genetic features of a family with angioedema attacks. Methods: The medica...

ANGIOEDEMA HEREDITARIO, PONDERACIÓN DE EVIDENCIAS. PARTE 1

A pesar de que el angioedema hereditario es un padecimiento raro, tiene una amplia bibliografía que ratifica que la fisiopatología de esta enfermedad es compleja. La constante investigación de la industria farmacéutica no solo ha aportado nuevos recursos terapéuticos sino que ha logrado despertar un...