scholarly journals Factor V Leiden and Prothrombin 20210A Mutations among Turkish Pediatric Leukemia Patients

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Dilara Fatma Akın ◽  
Kadir Sipahi ◽  
Tuğba Kayaalp ◽  
Yonca Eğin ◽  
Serpil Taşdelen ◽  
...  
Keyword(s):  
Thrombotic Event ◽  
Factor V Leiden ◽  
Turkish Population ◽  
Heterozygous Mutation ◽  
Factor V ◽  
Pediatric Leukemia ◽  
Turkish Children ◽  
Prothrombin 20210A

This study was undertaken to determine the prevalence of the Factor V 1691 G-A and PT 20210 G-A mutations in Turkish children with leukemia. We genotyped 135 pediatric leukemia patients with for these mutations. Eleven (8%) of the 135 patients were heterozygous for the FV 1691 G-A mutation. Seven (5,1%) of the patients carried the PT 20210 G-A heterozygous mutation. Of the 135 patients, only three had thrombotic event, none of which had these two mutations, which is common in Turkish population. Our findings revealed a controversial compared to the previous reports, which needs further investigation.

C0369 Factor V leiden and prothrombin 20210A mutations among turkish pediatric leukemia patients

2012 ◽  
Vol 130 ◽  
pp. S129-S130
Author(s):  
Dilara Fatma Akin ◽  
Kadir Sipahi ◽  
Tuğba Kayaalp ◽  
Yonca Eğin ◽  
Serpil Taşdelen ◽  
...  
Keyword(s):  
Factor V Leiden ◽  
Factor V ◽  
Pediatric Leukemia ◽  
Prothrombin 20210A

scholarly journals APC-resistance as a possible predictor of recurrent thrombosis in women with Factor V Leiden

2018 ◽  
Vol 67 (6) ◽  
pp. 50-59 ◽  
Author(s):  
Maria G. Nikolayeva ◽  
Andrey P. Momot ◽  
Marina S. Zaynulina ◽  
Ksenia A. Momot ◽  
Natalia N. Yasafova
Keyword(s):  
Thrombotic Event ◽  
Activated Protein C ◽  
Factor V Leiden ◽  
Resistance Index ◽  
Reproductive Age ◽  
Control Group ◽  
Factor V ◽  
Recurrent Thrombosis ◽  
Apc Resistance ◽  
Venous Thromboembolic

Hypothesis/aims of study. The current analysis was undertaken to elucidate the role of Factor Va resistance to proteolytic cleavage by activated protein C in FVL(1691)GA female carriers in the development of acute and recurrent thromboses. Study design, materials and methods. A prospective clinical cohort study of 1100 women of reproductive age was conducted, with the course and outcomes of 2,707 pregnancies analyzed. Two cohorts were specified: the main group consisted of 500 patients with FV(1691)GA genotype, and the control group consisted of 600 patients with FVL(1691)GG genotype. Results. FVL(1691)GA genotype was significantly associated with the development of venous thromboembolic complications (VTEC) compared to FVL(1691)GG genotype (OR 9.3; p < 0.0001). Episodes of recurrent thrombosis during and outside of pregnancy were registered only in FVL(1691)GA patients (OR 5.7, p = 0.2). In all cases, at the time of the thrombotic event and during the period before the episode of acute or recurrent thrombosis, an APC resistance normalized ratio (NR) value was ≤ 0.49, with no episodes of VTEC registered with an APC resistance NR value ≥ 0.5. Conclusion. Venous thromboses occur under the condition of expressed APC resistance with underlying FVL(1691)GA carriage. The APC resistance index can serve as an objective biochemical marker to determine the feasibility of thromboprophylaxis within the framework of personalized medicine.

scholarly journals High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance) [see comments]

Blood ◽  
1995 ◽  
Vol 85 (6) ◽  
pp. 1504-1508 ◽  
Author(s):  
FR Rosendaal ◽  
T Koster ◽  
JP Vandenbroucke ◽  
PH Reitsma
Keyword(s):  
Venous Thrombosis ◽  
Protein C ◽  
Absolute Risk ◽  
Thrombotic Event ◽  
Activated Protein C ◽  
Factor V Leiden ◽  
Coagulation Factor ◽  
Factor V ◽  
Increased Risk ◽  
The Absolute

Resistance to activated protein C (APC) is a common inherited risk factor for venous thrombosis, which is associated with a mutation in coagulation factor V (factor V Leiden). We investigated the risk of venous thrombosis in individuals homozygous for this abnormality. We determined the factor V Leiden genotype in 471 consecutive patients aged less than 70 years with a first objectively confirmed deep-vein thrombosis and in 474 healthy controls. We found 85 heterozygous and seven homozygous individuals among the cases with thrombosis and 14 heterozygous individuals among the control subjects. The expected number of homozygous individuals among the controls was calculated from Hardy-Weinberg equilibrium and estimated at 0.107 (allele frequency, 1.5%). Whereas the relative risk was increased sevenfold for heterozygous individuals, it was increased 80-fold for homozygous individuals. These patients experienced their thrombosis at a much younger age (31 v 44 years). The homozygous individuals were predominantly women, most likely due to the effect of oral contraceptives. Because of the increased risk of thrombosis with age, the absolute risk becomes most pronounced in older patients, both for heterozygous and homozygous individuals. For the homozygous individuals, the absolute risk may become several percentage points per year. This implies that most individuals homozygous for factor V Leiden will experience at least one thrombotic event in their lifetime.

Prevalence of Factor V Leiden and Prothrombin 20210A Mutations in Indigenous Australians

2001 ◽  
Vol 86 (12) ◽  
pp. 1592-1593 ◽  
Author(s):  
J. A. Bennett ◽  
L. J. Palmer ◽  
A. W. Musk ◽  
W. N. Erber
Keyword(s):  
Factor V Leiden ◽  
Indigenous Australians ◽  
Factor V ◽  
Prothrombin 20210A

scholarly journals Delayed Pulmonary Embolism Following Achilles Tendon Repair

2014 ◽  
Vol 2 (11_suppl3) ◽  
pp. 2325967114S0022
Author(s):  
İlker Çolak ◽  
Engin Eceviz ◽  
Özgür Baysal ◽  
Halil İbrahim Bekler
Keyword(s):  
Emergency Department ◽  
Pulmonary Embolism ◽  
Venous Thromboembolism ◽  
Achilles Tendon ◽  
Tendon Rupture ◽  
Achilles Tendon Rupture ◽  
Factor V Leiden ◽  
Heterozygous Mutation ◽  
Factor V ◽  
Dvt Prophylaxis

Objectives: It is well known that venous thromboembolism is a common complication after lower limb injuries which requires long term immobilization, however venous thromboembolism prophylaxis after achilles tendon rupture is stil controversial. In this report our aim is to present a case of pulmonary embolism which developed 47 days after surgical repair of achilles tendon rupture and diagnosed factor V leiden heterozygous mutation. Methods: Case presentation: A 28 – years- old man was admitted to emergency department with left heel pain and he could not bear weight on it. Achilles tendon rupture was confirmed with physical examination and MRI and patient operated under the spinal anesthesia. Tendon was repaired with the modified Kesler technique. Patient was cast-immobilized and ambulating with crutches and rested for 47 days at home, when he was admitted to emergency department again with acute severe dyspnea, pain on right side, hemoptysis. There was no chronic disease history in in the patient´s anamnesis except migraine diagnosis. There were slight inspiratory rales in right lower lobe in auscultation of respiratuary system examination. Cardiovascular system and abdomen examination were normal. Plasma concentration of D-dimer was 1227 μg/mL in the laboratory evaluations. Patient was diagnosed pulmonary embolus (PE) by ventilation/perfusion lung scan. Result of detailed evaluation, genetic analysis showed that patient has factor V leiden heterozygous mutation. Patient hospitalized in Department of Chest Diseases and low-molecular-weight heparin was used to treat and 5 mg orally Warfarin was used for six months. Results: Conclusion: The incidence of deep venus thrombosis (DVT) and PE after Achilles tendon rupture were highly variable in the literature. This could depend on different designs used in studies. The most recent antihrombotic guidelines suggested no DVT prophylaxis for this type injuries. Existing orthopaedic guidelines does not provide optimal DVT/PE prophylaxis for injuries under the knee requires immobilization. Further research is needed to investigate the benefits of DVT prophylaxis on patients following Achilles tendon rupture.

scholarly journals Jejunal Varices Bleeding in a Patient with Extensive Portomesenteric Thrombosis Secondary to Factor V Leiden Mutation: A Management Dilemma

2019 ◽  
Vol 2019 ◽  
pp. 1-5
Author(s):  
Ahmad Ayash ◽  
Kamran Mushtaq ◽  
Mohamed Emad Abdul Qader ◽  
Khalid Mohsin Al-Ejji ◽  
Saad Rashid Al Kaabi ◽  
...  
Keyword(s):  
Portal Hypertension ◽  
Gastroesophageal Junction ◽  
Factor V Leiden ◽  
Therapeutic Options ◽  
Heterozygous Mutation ◽  
Factor V ◽  
Gi Bleeding ◽  
Factor V Leiden Mutation ◽  
Jejunal Varices ◽  
Ectopic Varices

Ectopic varices are portosystemic collaterals that occur away from the gastroesophageal junction and account for 1-5% of all variceal bleeding. Its occurrence in the jejunum is rare. Most common cause of ectopic jejunal varices is portal hypertension especially in those patients who have undergone prior abdominal surgery. Portomesenteric thrombosis is a rare cause of ectopic jejunal varices. Ectopic varices are rare cause of obscure GI bleeding and hence should be always suspected in patients with history of portal hypertension who present with GI bleeding and have negative upper and lower GI endoscopies. Management of patients with ectopic varices is often very challenging and requires multidisciplinary approach. Therapeutic options include endoscopic therapy, interventional radiologic procedures, surgically creating shunting, or surgical resection. We present the case of a 52-year-old patient who was on anticoagulation for extensive portomesenteric thrombosis secondary to factor V Leiden heterozygous mutation and presented with melena and symptomatic anemia. Investigations showed bleeding jejunal varices as the cause of anemia. We discuss the therapeutic options and dilemma in the management of such cases.

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