The Effect of PAI-1 Gene Variants and PAI-1 Plasma Levels on Development of Thrombophilia in Patients With Klinefelter Syndrome

Erkal, Burçin; Yiğin, Aysel Kalaycı; Palandüz, Şükrü; Daşdemir, Selçuk; Seven, Mehmet

doi:10.1177/1557988318801158

Cited by 10 publications

(8 citation statements)

References 16 publications

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“…21 reported on a pediatric case in which the boy also had a type 1 protein C deficiency whereas Erkal et al . 22 did not find a difference in PAI-1 gene polymorphisms when comparing KS patients and cohorts. Finally, Glueck et al .…”

Section: What Comorbidities Can Accompany Klinefelter Syndrome?mentioning

confidence: 70%

Recent advances in managing and understanding Klinefelter syndrome

Bearelly

Oates

2019

F1000Res

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Klinefelter syndrome can present as a wide spectrum of clinical manifestations at various stages in life, making it a chromosomal disorder with no standardized set of guidelines for appropriate management. Understanding the genetic and hormonal causes of this syndrome can allow physicians to treat each patient on a more individualized basis. The timing of diagnosis and degree of symptoms can guide management. This report will provide an updated review of the clinical presentation at various stages in life and the implications for management.

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Section: What Comorbidities Can Accompany Klinefelter Syndrome?mentioning

confidence: 70%

Recent advances in managing and understanding Klinefelter syndrome

Bearelly

Oates

2019

F1000Res

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“…This again could point to specific properties of fat tissue in men with KS compared with controls. In a recent study, increased levels of PAI-1 were seen among men with KS compared with controls ( 25 ). However, in that study, no data are given concerning the range of BMI in the control population and the men with KS included in the study had a very wide BMI range (16.3–36.3 kg/m 2 ) and none were currently treated with testosterone and testosterone levels were not assessed.…”

Section: Discussionmentioning

confidence: 93%

Reduced fibrin clot lysis in Klinefelter syndrome associated with hypogonadism

Chang

Goszczak

Skakkebæk

et al. 2022

Endocrine Connections

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Objective: Klinefelter syndrome (KS) is associated with increased risk of thrombosis. Hypogonadism and accumulating body fat in KS have a potential impact on fibrinolysis. We assessed the fibrinolytic system and the association with testosterone levels in KS. Design: Cross-sectional comparison of men with KS and age-matched male controls. Methods: Fibrin clot lysis was evaluated by turbidity measurements and by measuring levels of individual fibrinolytic proteins in plasma samples. Total testosterone was measured by liquid chromatography tandem mass spectrometry. Body fat was evaluated by dual-energy X-ray absorptiometry. Results: Forty-five men with KS and 45 age and education matched controls were included. Men with KS had a 24 % reduction in fibrin clot lysis compared with controls (46.2 ± 17.1 versus 60.6 ± 18.8 %/h, p=0.0003), and higher levels of fibrinogen, factor XIII (p≤0.01) and plasminogen activator inhibitor type 1 (p=0.04). Men with KS had lower total testosterone (p=0.008) and higher body fat (p=0.001). In KS, reduced fibrin clot lysability was associated with higher higher fibrinogen and body fat related to decreasing total testosterone and hypogonadism among men with KS. Conclusions: Fibrin clot lysis in KS was markedly reduced, potentially contributing to a prothrombotic state and increased thrombotic risk. Hypogonadism in KS was associated with increased fibrinogen and total body fat, predicting reduced fibrin clot lysis.

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“…In addition, the polymorphism of RS1799889 in the promoter region of the PAI-1 gene has been detected in patients with thrombosis. 17 However, there is no association between elevated levels of PAI-1 and the risk of venous thrombosis in recent study. 18 The 5G allele is associated with reduced PAI-1 transcript levels compared with 4G allele, so the presence of the 5G allele may lead to a reduced risk of thrombotic events.…”

Section: Plasminogen Activator Inhibitor-1mentioning

confidence: 88%

Recent Advances on the Molecular Mechanism and Clinical Trials of Venous Thromboembolism

Huang,

Xin,

Wang

et al. 2023

JIR

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Venous thromboembolism is a condition that includes deep vein thrombosis and pulmonary embolism. It is the third most common cardiovascular disease behind acute coronary heart disease and stroke. Over the past few years, growing research suggests that venous thrombosis is also related to the immune system and inflammatory factors have been confirmed to be involved in venous thrombosis. The role of inflammation and inflammation-related biomarkers in cerebrovascular thrombotic disease is the subject of ongoing debate. P-selectin leads to platelet-monocyte aggregation and stimulates vascular inflammation and thrombosis. The dysregulation of miRNAs has also been reported in venous thrombosis, suggesting the involvement of miRNAs in the progression of venous thrombosis. Plasminogen activator inhibitor-1 (PAI-1) is a crucial component of the plasminogen-plasmin system, and elevated levels of PAI-1 in conjunction with advanced age are significant risk factors for thrombosis. In addition, it has been showed that one of the ways that neutrophils promote venous thrombosis is the formation of neutrophil extracellular traps (NETs). In recent years, the role of extracellular vesicles (EVs) in the occurrence and development of VTE has been continuously revealed. With the advancement of research technology, the complex regulatory role of EVs on the coagulation process has been gradually discovered. However, our understanding of the causes and consequences of these changes in venous thrombosis is still limited. Therefore, we review our current understanding the molecular mechanisms of venous thrombosis and the related clinical trials, which is crucial for the future treatment of venous thrombosis.

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The Effect of PAI-1 Gene Variants and PAI-1 Plasma Levels on Development of Thrombophilia in Patients With Klinefelter Syndrome

Cited by 10 publications

References 16 publications

Recent advances in managing and understanding Klinefelter syndrome

Recent advances in managing and understanding Klinefelter syndrome

Reduced fibrin clot lysis in Klinefelter syndrome associated with hypogonadism

Recent Advances on the Molecular Mechanism and Clinical Trials of Venous Thromboembolism

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