ArticleAnais brasileiros de dermatologia
Outcomes of long term treatments of type I hereditary angioedema in a Turkish family.
Article in Anais brasileiros de dermatologia. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed, 4 citations in OpenAlex.
- Physician Awareness of Hereditary Angioedema: A Cross-Sectional Survey with Emphasis on Medication-Related Triggers.Journal of clinical medicine · 2026Article
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHereditary angioedema is a rare autosomal dominantly inherited immunodeficiency disorder characterized by potentially life-threatening angioedema attacks.
objectiveWe aimed to investigate the clinical and genetic features of a family with angioedema attacks.
methodsThe medical history, clinical features and C1-INH gene mutation of a Turkish family were investigated and outcomes of long-term treatments were described.
resultsFive members had experienced recurrent swellings on the face and extremities triggered by trauma. They were all misdiagnosed as familial Mediterranean fever (FMF) depending on frequent abdominal pain and were on colchicine therapy for a long time. They had low C4 and C1-INH protein concentrations and functions. A mutation (c.1247T>A) in C1-INH gene was detected. They were diagnosed as having hereditary angioedema with C1-INH deficiency (C1-INH hereditary angioedema) for the first time. Three of them benefited from danazol treatment without any significant adverse events and one received weekly C1 esterase replacement treatment instead of danazol since she had a medical history of thromboembolic stroke. STUDY LIMITATIONS: Small sample size of participants.
conclusionPatients with C1-INH hereditary angioedema may be misdiagnosed as having familial Mediterranean fever in regions where the disorder is endemic. Medical history, suspicion of hereditary angioedema and laboratory evaluations of patients and their family members lead the correct diagnoses of hereditary angioedema. Danazol and C1 replacement treatments provide significant reduction in hereditary angioedema attacks.
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