Outcomes of long term treatments of type I hereditary angioedema in a Turkish family
| Autor: | Belgin Kesim, Gokhan Yildiz, Ahmet Metin, Gulsen Akoglu |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Adult Male medicine.medical_specialty Abdominal pain Time Factors Turkey Familial Mediterranean fever Dermatology Gene mutation 03 medical and health sciences 0302 clinical medicine immune system diseases medicine Humans Medical history cardiovascular diseases Adverse effect skin and connective tissue diseases Child Danazol Investigation Angioedema Base Sequence Hereditary Angioedema Types I and II business.industry Angioedemas Hereditary Estrogen Antagonists Gene Amplification Middle Aged medicine.disease Pedigree 030104 developmental biology Treatment Outcome 030228 respiratory system RL1-803 Hereditary angioedema Mutation Complement C1 inhibitor protein Female medicine.symptom business medicine.drug |
| Zdroj: | Anais Brasileiros de Dermatologia v.92 n.5 2017 Anais brasileiros de dermatologia Sociedade Brasileira de Dermatologia (SBD) instacron:SBD Anais Brasileiros de Dermatologia Anais Brasileiros de Dermatologia, Volume: 92, Issue: 5, Pages: 655-660, Published: OCT 2017 Anais Brasileiros de Dermatologia, Vol 92, Iss 5, Pp 655-660 (2017) |
| Popis: | 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 medical history, clinical features and C1-INH gene mutation of a Turkish family were investigated and outcomes of long-term treatments were described. Results: Five 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. Conclusion: Patients 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. |
| Databáze: | OpenAIRE |
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