scholarly journals Infertility and Inherited Thrombophilia

Thrombophilia ◽  
10.5772/26690 ◽  
2011 ◽  
Author(s):  
Ricardo Barini ◽  
Adriana Goes ◽  
Joyce Annichino-Bizzachi ◽  
Egle Couto
Keyword(s):  
Inherited Thrombophilia

scholarly journals Cis-Segregation of c.1171C>T Stop Codon (p.R391*) in SERPINC1 Gene and c.1691G>A Transition (p.R506Q) in F5 Gene and Selected GWAS Multilocus Approach in Inherited Thrombophilia

Genes ◽  
2021 ◽  
Vol 12 (6) ◽  
pp. 934
Author(s):  
Donato Gemmati ◽  
Giovanna Longo ◽  
Eugenia Franchini ◽  
Juliana Araujo Silva ◽  
Ines Gallo ◽  
...  
Keyword(s):  
At Risk ◽  
Stop Codon ◽  
Association Studies ◽  
Premature Stop Codon ◽  
Large Family ◽  
Genome Wide Association Studies ◽  
Loss Of Function ◽  
Gene Markers ◽  
Inherited Thrombophilia ◽  
Fv Leiden

Inherited thrombophilia (e.g., venous thromboembolism, VTE) is due to rare loss-of-function mutations in anticoagulant factors genes (i.e., SERPINC1, PROC, PROS1), common gain-of-function mutations in procoagulant factors genes (i.e., F5, F2), and acquired risk conditions. Genome Wide Association Studies (GWAS) recently recognized several genes associated with VTE though gene defects may unpredictably remain asymptomatic, so calculating the individual genetic predisposition is a challenging task. We investigated a large family with severe, recurrent, early-onset VTE in which two sisters experienced VTE during pregnancies characterized by a perinatal in-utero thrombosis in the newborn and a life-saving pregnancy-interruption because of massive VTE, respectively. A nonsense mutation (CGA > TGA) generating a premature stop-codon (c.1171C>T; p.R391*) in the exon 6 of SERPINC1 gene (1q25.1) causing Antithrombin (AT) deficiency and the common missense mutation (c.1691G>A; p.R506Q) in the exon 10 of F5 gene (1q24.2) (i.e., FV Leiden; rs6025) were coinherited in all the symptomatic members investigated suspecting a cis-segregation further confirmed by STR-linkage-analyses [i.e., SERPINC1 IVS5 (ATT)5–18, F5 IVS2 (AT)6–33 and F5 IVS11 (GT)12–16] and SERPINC1 intragenic variants (i.e., rs5878 and rs677). A multilocus investigation of blood-coagulation balance genes detected the coexistence of FV Leiden (rs6025) in trans with FV HR2-haplotype (p.H1299R; rs1800595) in the aborted fetus, and F11 rs2289252, F12 rs1801020, F13A1 rs5985, and KNG1 rs710446 in the newborn and other members. Common selected gene variants may strongly synergize with less common mutations tuning potential life-threatening conditions when combined with rare severest mutations. Merging classic and newly GWAS-identified gene markers in at risk families is mandatory for VTE risk estimation in the clinical practice, avoiding partial risk score evaluation in unrecognized at risk patients.

Venous Thromboembolism: Genetics and Thrombophilias

2021 ◽  
Vol 42 (02) ◽  
pp. 271-283
Author(s):  
Manila Gaddh ◽  
Rachel P. Rosovsky
Keyword(s):  
Clinical Practice ◽  
Venous Thromboembolism ◽  
Family History ◽  
Morbidity And Mortality ◽  
Inherited Thrombophilia ◽  
Risks And Benefits ◽  
Hereditary Thrombophilia ◽  
The World ◽  
The Future ◽  
History Of

AbstractVenous thromboembolism (VTE) is a major cause of morbidity and mortality throughout the world. Up to one half of patients who present with VTE will have an underlying thrombophilic defect. This knowledge has led to a widespread practice of testing for such defects in patients who develop VTE. However, identifying a hereditary thrombophilia by itself does not necessarily change outcomes or dictate therapy. Furthermore, family history of VTE by itself can increase an asymptomatic person's VTE risk several-fold, independent of detecting a known inherited thrombophilia. In this article, we will describe the current validated hereditary thrombophilias including their history, prevalence, and association with VTE. With a focus on evaluating both risks and benefits of testing, we will also explore the controversies of why, who, and when to test as well as discuss contemporary societal guidelines. Lastly, we will share how these tests have been integrated into clinical practice and how to best utilize them in the future.

Obstetric outcomes of recurrent pregnancy loss patients diagnosed wıth inherited thrombophilia

2017 ◽  
Vol 186 (3) ◽  
pp. 707-713 ◽  
Author(s):  
C. Karadağ ◽  
T. Yoldemir ◽  
S. D. Karadağ ◽  
C. İnan ◽  
Z. N. Dolgun ◽  
...  
Keyword(s):  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Obstetric Outcomes ◽  
Inherited Thrombophilia

Prophylactic therapy with enoxaparin in children with acute lymphoblastic leukemia and inherited thrombophilia during L-asparaginase treatment

2010 ◽  
Vol 126 (2) ◽  
pp. 93-97 ◽  
Author(s):  
Dan Harlev ◽  
Irina Zaidman ◽  
Galit Sarig ◽  
Myriam Weyl Ben Arush ◽  
Benjamin Brenner ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Lymphoblastic Leukemia ◽  
Prophylactic Therapy ◽  
Inherited Thrombophilia

MO233RENAL ARTERY STENOSIS: DO NOT FORGET INHERITED THROMBOPHILIA

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
Marwa Omrane ◽  
Yosra Ben Ariba ◽  
Imen Ouertani ◽  
Jannet Labidi
Keyword(s):  
Blood Pressure ◽  
Renal Function ◽  
Renal Artery ◽  
High Blood Pressure ◽  
Protein C ◽  
Artery Bypass ◽  
Duplex Ultrasound ◽  
Protein S ◽  
Artery Stenosis ◽  
Inherited Thrombophilia

Abstract Background and Aims Inherited thrombophilia can be defined as a genetically determined predisposition to develop thromboembolic complications. Inherited prothrombotic risk factors include antithrombin deficiency, protein C and protein S deficiencies, activated protein C resistance due to Leiden factor V mutation, inherited hyperhomocysteinemia, prothrombin G20210A variant, dysfibrinogenemia and elevated factor VIII levels. Method We report the case of a patient with history of bilateral renal artery stenosis who presented with renal artery bypass thrombosis related to an inherited thrombophilia. Results We report a case of 40-year-old male patient who presented with extremely high blood pressure and hypokalemia without other biological abnormalities. The duplex ultrasound showed bilateral renal stenosis with chronic occlusion of the right renal artery and a tight stenosis of the left renal artery estimated at 50%. Renal angiography confirmed the bilateral stenosis, associated to a small right kidney. Renal scintigraphy with DMSA showed normal left renal function and right renal function estimated at 2%. The therapeutic decision was to perform an aorto-renal bypass surgery by the saphenous vein.After renal artery bypass the blood pressure improved markedly, maintaining this result at 12 months follow-up at clinical examination and duplex ultrasound. One year later, the patient presented with high blood pressure. The duplex ultrasound showed a stenosis of the bypass with a double stenosis of the left aorto renal bypass on renal angioscanner. The patient underwent angioplasty of the venous bridge with implantation of 2 stents with improvement of blood pressure after angioplasty. Six months later, the patient presented an unbalanced blood pressure, the ultrasound control with a vascular Doppler showed a stenosis at the stent. The antihypertensive treatment was increased, a thrombophilia balance was requested concluding a combined protein C and protein S deficiency. Conclusion An etiological assessment should be carried out systematically in the event of thrombosis occurring before the age of 40 or in the case of iterative venous or arterial thrombosis. A genetic study where appropriate and a family screening are then recommended.

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