Journals / Gazi Medical Journal / 2015 / Cilt: 26 - Sayı: 1

Multiple Thrombotic Gene Mutations in Patients with Cerebral Venous Thrombosis: Three Case Reports and Literature Review

Serebral Venöz Trombozlu Hastalarda Multipl Trombotik Gen Mutasyonları: Üç Olgu Sunumu ve Literatürün Gözden Geçirilmesi

Pages
31–34
Publication Date
2022-10-19
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Here, we report three patients with cerebral venous thrombosis who had multiple gene mutations.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Although cerebral venous thrombosis (CVT) is mostly seen in young adults, it is a disease that affects all age groups, has a broad range of symptoms, and usually carries a good prognosis.
📊
Key Findings & Data:Extensive tests and examinations are needed to determine its etiology.
💡
Conclusion & Impact:Here, we report three patients with cerebral venous thrombosis who had multiple gene mutations.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Although cerebral venous thrombosis (CVT) is mostly seen in young adults, it is a disease that affects all age groups, has a broad range of symptoms, and usually carries a good prognosis. Extensive tests and examinations are needed to determine its etiology. Even in the presence of a marked risk factor, genetic thrombotic factors should be systematically investigated. Thrombotic important hereditary causes of coagulation defects. Single gene mutations may be observed, as well as multiple gene mutations can rarely be detected. Here, we report three patients with cerebral venous thrombosis who had multiple gene mutations.

Özet

Serebral venöz tromboz (SVT) daha çok genç erişkin hastalarda görülmekle birlikte her yaş grubunda rastlanılabilen, çok çeşitli klinik bulgularla seyreden, genellikle iyi prognoza sahip bir hastalıktır. Etiyolojinin belirlenmesinde geniş çaplı bir araştırma gerekmektedir. SVT için belirgin bir risk faktörü varlığında bile genetik trombotik faktörlerin her hastada sistematik olarak araştırılması gereklidir. Trombotik gen mutasyonu koagülasyon bozukluğuna neden olan önemli herediter nedenler arasındadır. Tekli gen mutasyonu görülebildiği gibi, daha nadir olarak multipl gen mutasyonları da saptanabilmektedir. Burada multipl gen mutasyonlarına sahip serebral venöz tromboz nedeni ile takip edilen üç hastadan bahsedilecektir.

🔖

Cite This Article

ÖCAL, R. Ö., KOTAN, D., BÖLÜK, A., AYAS, Z. Ö. (2022). Multiple Thrombotic Gene Mutations in Patients with Cerebral Venous Thrombosis: Three Case Reports and Literature Review. Gazi Medical Journal, Cilt: 26 - Sayı: 1, 31–34. https://ajindex.com/articles/520058

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (2)

  1. Saposnik G, Barinagarrementeria F, Brown RD Jr, Bushell CD, Cucchiara B, Cushman M, et al. Diagnosis and management of cerebral venous thrombosis:a statement for healthcare professionals from the American Heart Association/American Stroke Association. 4th ed. Stroke 2011;42:1158-92. 2.Afşar N, Aktan S. [Cerebral venous thrombosis]. Balkan S, editör. Serebrovasküler Hastalıklar. 3.Baskı.
  2. Ankara, Güneş kitabevi; 2009.p.135-46. 3.Ferro JM, Canhão P, Stam J, Bousser MG, Barinagarrementeria F. Prognosis of cerebral vein and dural sinus thrombosis: results of the International Study on Cerebral Vein and Dural Sinus Thrombosis (ISCVT) Stroke 2004;35:664-70. 4.Giround M, Milan C, Beuriat P, Gras P, Essayagh E, Arveux P, et al. Incidence and survival rates during a two-year period of intracerebral and subarachnoid haemorrhages, cortical infarcts, lacunes and transient ischemic attacks. The Stroke Registry of Dijon. Int J Epidemiol 1991;20:892-9. 5.Friedline JA, Ahmad E, Garcia D, Blue D, Ceniza N, Mattson JC, et al. Combined factor V leiden and prothrombin genotyping in patients presenting with thromboembolic episodes. Arch. Path ol. Lab Med. 2001;125:105-11. 6.Huisman MV, Rosendaal F. Thrombophilia.Curr Opin Hematol 1999;6:291- 7. 7.Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994;369:64-7. 8.Hajjar K A. Factor V leiden: An unselfish gene? NEJM 1994;331:1585-7. 9.Rees DC, Cox M, Clegg JB. World distribution of factor V leiden. Lancet 1995;346:1133-4. 10.Markus HS, Ali N, Swamiathan R, Sankaralingam A, Molley J, Powell J. A common polymorphism in the Methylenetetrahydrofolat Reductase gene, homocysteine and ischemic cerebrovascular disease. Stroke. 1997;28:1739- 43. 11.Akar N, Akar E, Dalgın G, Sozuoz A, Omurlu K, Cin S. Frequency of Factor V 1691 (G-A) mutation in Turkish population. J Thromb Haemost.1997;78:1527-9. 12.Handin RI. Bleeding and thrombotic disorders In: Kasper DI, Braunwald E, Fauci AS, Hauser SL, Longo DL, Jameson JL, eds. Harrison’s principles of internal medicine, 16th ed. New York, McGraw-Hill; 2005.p.277-8. 13.Dentali F, Crowther, AgenoW. Thrombophilic abnormalities, oral contraceptives, and risk of cerebral vein trombosis: A meta-analyses.Blood 2006;107:2766-73. 14.Pai N, Ghosh K, Shetty S. Hereditary thrombophilia in cerebral venous thrombosis: a study from India. Blood Coagul Fibrinolysis. 2013;24:540-3. 15.Be