Factor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients

EĞİN, Yonca; ELSOBKY, S. Ezzat; akar, nejat; ABDELHAKAM, M. Sara; YOUSUF, Said; SAKR, A. Mohamed; GHAFFAR, Tawhida Y. Abdel; ELSAYED, M. Solaf

Factor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients

Tawhida Y. Abdel GHAFFAR, (Yassin Abdelghaffar Charity Center for Liver Disease and Research, Cairo, Egypt)

M. Solaf ELSAYED, (Shams University, Children’s Hospital, Cairo, Egypt)

A. Mohamed SAKR, (Department of Medical Genetics Center Ain Shams University, Cairo, Egyp)

S. Ezzat ELSOBKY, (Department of Medical Genetics Center Ain Shams University, Cairo, Egyp)

M. Sara ABDELHAKAM, (Department of Tropical Medicine, Ain Shams University, Cairo, Egypt)

Said YOUSUF, (Department of Hematology, Ain Shams University, Cairo, Egypt)

Yonca EĞİN, (Ankara Üniversitesi, Tıp Fakültesi, Pediatrik Moleküler Genetik Anabilim Dalı, Ankara, Türkiye)

Nejat AKAR (Ankara Üniversitesi, Tıp Fakültesi, Pediatrik Moleküler Genetik Anabilim Dalı, Ankara, Türkiye)

Turkish Journal of Hematology

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Yıl: 2011 Cilt: 28 Sayı: 4 Sayfa Aralığı: 299 - 305 Metin Dili: Türkçe İndeks Tarihi: 29-07-2022

Factor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients

Öz:

Amaç: Budd-Chiari sendromunun etyolojisinde çok farklı nedenler rol oynayabilir. Farklı protrombotik bozukluklar, bu sendromun oluşmasına yol açabilir. Bu çalışmada Mısır’lı Budd Chiari Sendromu tanısı almış hastalarda trombofilik nedenlerin sıklığıyla hastaların özelliklerinin karşılaştırılması amaçlanmıştır. Yöntemler ve Gereçler: Çalışmaya 20 çocuk ve 27 erişkin olmak üzere 47 hasta dahil edilmiştir. Faktör V Leiden G1691A, Prothrombin G20210A and methylenetetrahydrofolate reductase C677T genotiple- meleri gerçek zamanlı polimeraz zincir reaksiyon (PZR) yöntemi kullanılarak gerçekleştirilmiştir. FV Leiden toplam 29 hastada (%61.7) saptanmış olup, daha once yapılan çalışmalara göre yüksek bir orandır. 18 hastada Budd Chiari sendromu oluşması için tek etyolojik neden olarak göze çarpmaktadır. Myeloproliferatif hastalık sadece 12 (%25.5), antifosfolipid sendromu 5 (%10.6), ve Behçet hastalığı 3 (%6.4) hastada saptanmıştır. İlginç olan 3 çocukta lipid depo hastalıkların da belirlenmiş olmasıdır. Sonuç: Faktör V Leiden'ın Budd Chiarinin oluşmasındaki temel etyolojik faktörlerden biri olarak göze çarpmaktadır. Bu ise mutasyonun Mısır toplumunda yüksek oranda bulunmasına bağlanabilir. Lipid depo hastalıklarının da Budd Chiari için risk faktörü olarak dahil edilmesi gerekmektedir.

Anahtar Kelime:

Konular: Hematoloji

Mısır’lı Budd-Chiari sendromlu hastalarda Faktör G1691A Leiden major bir etyolojik faktördür

Öz:

Objective: Budd-Chiari syndrome is a multifactorial disease in which several prothrombotic disorders may predispose patients to the development of thrombosis at this uncommon location (hepatic veins). The aim of this study was to determine the prevalence and characteristics of inherited thrombophilia in Egyptian Budd-Chiari syndrome patients. Materials and Methods: The study included 47 Budd-Chiari syndrome patients (20 children and 27 adults). Genotyping of Factor V G1691A (Leiden), prothrombin G20210A (PT), and methylenetetra- hydrofolate reductase C677T were performed using real-time PCR and fluorescence melting curve detection analysis. Results: Factor V Leiden was observed in 29 patients (61.7%). It is the only factor that caused Budd- Chiari syndrome in 18 of the patients and in 5 of the patients with inferior vena cava involvement. Myeloproliferative disease was noted in 12 (25.5%) patients, antiphospholipid syndrome in 5 (10.6%), and Behcet’s disease in 3 (6.4%). Interestingly, 3 of the children with Budd-Chiari syndrome had lipid storage disease. Conclusion: Factor V Leiden was a major etiological factor in Egyptian Budd-Chiari syndrome patients, which may have been related to the high frequency of this mutation in the study region. Factor V Leiden was also a strong thrombophilic factor and the leading cause of inferior vena cava thrombosis in these patients. Lipid storage disease should be included as a risk factor for Budd-Chiari syndrome.

Anahtar Kelime:

Konular: Hematoloji

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık

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APA	GHAFFAR T, ELSAYED M, SAKR A, ELSOBKY S, ABDELHAKAM M, YOUSUF S, EĞİN Y, akar n (2011). Factor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients. , 299 - 305.
Chicago	GHAFFAR Tawhida Y. Abdel,ELSAYED M. Solaf,SAKR A. Mohamed,ELSOBKY S. Ezzat,ABDELHAKAM M. Sara,YOUSUF Said,EĞİN Yonca,akar nejat Factor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients. (2011): 299 - 305.
MLA	GHAFFAR Tawhida Y. Abdel,ELSAYED M. Solaf,SAKR A. Mohamed,ELSOBKY S. Ezzat,ABDELHAKAM M. Sara,YOUSUF Said,EĞİN Yonca,akar nejat Factor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients. , 2011, ss.299 - 305.
AMA	GHAFFAR T,ELSAYED M,SAKR A,ELSOBKY S,ABDELHAKAM M,YOUSUF S,EĞİN Y,akar n Factor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients. . 2011; 299 - 305.
Vancouver	GHAFFAR T,ELSAYED M,SAKR A,ELSOBKY S,ABDELHAKAM M,YOUSUF S,EĞİN Y,akar n Factor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients. . 2011; 299 - 305.
IEEE	GHAFFAR T,ELSAYED M,SAKR A,ELSOBKY S,ABDELHAKAM M,YOUSUF S,EĞİN Y,akar n "Factor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients." , ss.299 - 305, 2011.
ISNAD	GHAFFAR, Tawhida Y. Abdel vd. "Factor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients". (2011), 299-305.

APA	GHAFFAR T, ELSAYED M, SAKR A, ELSOBKY S, ABDELHAKAM M, YOUSUF S, EĞİN Y, akar n (2011). Factor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients. Turkish Journal of Hematology, 28(4), 299 - 305.
Chicago	GHAFFAR Tawhida Y. Abdel,ELSAYED M. Solaf,SAKR A. Mohamed,ELSOBKY S. Ezzat,ABDELHAKAM M. Sara,YOUSUF Said,EĞİN Yonca,akar nejat Factor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients. Turkish Journal of Hematology 28, no.4 (2011): 299 - 305.
MLA	GHAFFAR Tawhida Y. Abdel,ELSAYED M. Solaf,SAKR A. Mohamed,ELSOBKY S. Ezzat,ABDELHAKAM M. Sara,YOUSUF Said,EĞİN Yonca,akar nejat Factor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients. Turkish Journal of Hematology, vol.28, no.4, 2011, ss.299 - 305.
AMA	GHAFFAR T,ELSAYED M,SAKR A,ELSOBKY S,ABDELHAKAM M,YOUSUF S,EĞİN Y,akar n Factor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients. Turkish Journal of Hematology. 2011; 28(4): 299 - 305.
Vancouver	GHAFFAR T,ELSAYED M,SAKR A,ELSOBKY S,ABDELHAKAM M,YOUSUF S,EĞİN Y,akar n Factor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients. Turkish Journal of Hematology. 2011; 28(4): 299 - 305.
IEEE	GHAFFAR T,ELSAYED M,SAKR A,ELSOBKY S,ABDELHAKAM M,YOUSUF S,EĞİN Y,akar n "Factor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients." Turkish Journal of Hematology, 28, ss.299 - 305, 2011.
ISNAD	GHAFFAR, Tawhida Y. Abdel vd. "Factor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients". Turkish Journal of Hematology 28/4 (2011), 299-305.