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Journals / Annals of Medical Research / 2019 / Cilt: 26 - Sayı: 8

Inherited prothrombotic risk factors in children with hereditary angioedema

Yusuf ÖZKUL
Alper OZCAN
Murat CANSEVER
Turkan PATİROGLU
Pages
1700–1703
Publication Date
2022-10-12
DOI
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AI Summary & Key Takeaways

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⚡ TL;DR(Too Long; Didn't Read)

The heterozygous methylene tetrahydrofolate reductase (MTHFR)mutation were identified in seven patients (70%) and homozygous MTHFR mutation were found two patients (20%).Conclusion: In patients with hereditary angioedema, evaluation of protrombotic risk factors was crucial to estimate attack frequencyseverityand treatment related thrombosis risk.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Aim: Hereditary angioedema is characterized with recurrent mucocutaneous angioedema, abdominal pain, edema of larynx andextremities.
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Key Findings & Data:Thetype and frequency of attack, use of prophylaxis and family history of hereditary angioedema were questioned and prothromboticrisk factors were studied.Results: Among the 10 included patients, five of them were male (50%) and five were female (50%).
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Conclusion & Impact:The heterozygous methylene tetrahydrofolate reductase (MTHFR)mutation were identified in seven patients (70%) and homozygous MTHFR mutation were found two patients (20%).Conclusion: In patients with hereditary angioedema, evaluation of protrombotic risk factors was crucial to estimate attack frequencyseverityand treatment related thrombosis risk.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Aim: Hereditary angioedema is characterized with recurrent mucocutaneous angioedema, abdominal pain, edema of larynx andextremities. Dermal vascular thrombosis and systemic coagulation may occur in patients with hereditary angioedema due toinhibition of activated factor XII, thrombin and plasmin. Aim of this study was to screen patients with HAE for prothrombotic geneticrisk factors before treatment.Material and Methods: Ten patients with hereditary angioedema who were followed up at our clinic were included in our study. Thetype and frequency of attack, use of prophylaxis and family history of hereditary angioedema were questioned and prothromboticrisk factors were studied.Results: Among the 10 included patients, five of them were male (50%) and five were female (50%). Four patients had abdominaledema (40%), four patients had edema of hands, feet and face (40%). One patient (10%) had heterozygous factor V G1691A mutation,another one had also heterozygous protrombin G20210A mutation. The heterozygous methylene tetrahydrofolate reductase (MTHFR)mutation were identified in seven patients (70%) and homozygous MTHFR mutation were found two patients (20%).Conclusion: In patients with hereditary angioedema, evaluation of protrombotic risk factors was crucial to estimate attack frequencyseverityand treatment related thrombosis risk.

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Cite This Article

ÖZKUL, Y., OZCAN, A., CANSEVER, M., PATİROGLU, T. (2022). Inherited prothrombotic risk factors in children with hereditary angioedema. Annals of Medical Research, Cilt: 26 - Sayı: 8, 1700–1703. https://ajindex.com/articles/446978

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