Thrombotic Klinefelter Syndrome Associated With Factor V Leiden Mutation

Depaire-Duclos, Florence

doi:10.1001/archderm.1997.03890440135027

Cited by 9 publications

(6 citation statements)

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“…Twenty-three consecutive KS patients under testosterone replacement therapy have been included as a case group and 46 agematched healthy males recruited among hospital staff served as controls. We observed an increased platelet reactivity in KS (115); (v) deficit and inhibition of C and S proteins (116,117,118,119,120,121,122,123); (vi) high levels of homocysteine associated with antithrombin III (AT-III) alterations (124) or other; (vii) factor V Leiden alterations (125,126,127) (See Supplemental data 2 for details). It is worth mentioning the role of testosterone replacement therapy in hemostasis.…”

Section: Thrombosis and Hemostasis In Klinefelter Syndromementioning

confidence: 95%

MANAGEMENT OF ENDOCRINE DISEASE: Klinefelter syndrome, cardiovascular system, and thromboembolic disease: review of literature and clinical perspectives

Salzano

Arcopinto

Marra

et al. 2016

European Journal of Endocrinology

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Klinefelter syndrome (KS) is the most frequently occurring sex chromosomal aberration in males, with an incidence of about 1 in 500 -700 newborns. Data acquired from large registry-based studies revealed an increase in mortality rates among KS patients when compared with mortality rates among the general population. Among all causes of death, metabolic, cardiovascular, and hemostatic complication seem to play a pivotal role. KS is associated, as are other chromosomal pathologies and genetic diseases, with cardiac congenital anomalies that contribute to the increase in mortality. The aim of the current study was to systematically review the relationships between KS and the cardiovascular system and hemostatic balance. In summary, patients with KS display an increased cardiovascular risk profile, characterized by increased prevalence of metabolic abnormalities including Diabetes mellitus (DM), dyslipidemia, and alterations in biomarkers of cardiovascular disease. KS does not, however, appear to be associated with arterial hypertension. Moreover, KS patients are characterized by subclinical abnormalities in left ventricular (LV) systolic and diastolic function and endothelial function, which, when associated with chronotropic incompetence may led to reduced cardiopulmonary performance. KS patients appear to be at a higher risk for cardiovascular disease, attributing to an increased risk of thromboembolic events with a high prevalence of recurrent venous ulcers, venous insufficiency, recurrent venous and arterial thromboembolism with higher risk of deep venous thrombosis or pulmonary embolism. It appears that cardiovascular involvement in KS is mainly due to chromosomal abnormalities rather than solely on low serum testosterone levels. On the basis of evidence acquisition and authors' own experience, a flowchart addressing the management of cardiovascular function and prognosis of KS patients has been developed for clinical use.

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Section: Thrombosis and Hemostasis In Klinefelter Syndromementioning

confidence: 95%

MANAGEMENT OF ENDOCRINE DISEASE: Klinefelter syndrome, cardiovascular system, and thromboembolic disease: review of literature and clinical perspectives

Salzano

Arcopinto

Marra

et al. 2016

European Journal of Endocrinology

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“…Ranganath et al [10] reported a case of 60-year-old man with antiphospholipid antibody syndrome. Finally, a case of 62-year-old man with a heterozygous mutation in factor V Leiden 1691G>A was described by Depaire-Duclos et al [11]. We present a case of 26-year-old man with VTE and recurrent pulmonary embolism found to have compound heterozygosity for MTHFR 677C>T and 1298A>C with mild hyperhomocysteinemia.…”

Section: Introductionmentioning

confidence: 56%

“…It is unclear whether the increased incidence of thromboembolic disease in Klinefelter's syndrome patients reported by Campbell and Price [3] can be attributed solely to the low testosterone level and its effect on PAI-1 [25], or the result of an association with other inherited hypercoagulabilities [2,[9][10][11][12][13][14]. Our case report raises several questions: What is the true incidence of thrombosis in patients with Klinefelter's syndrome?…”

Section: Discussionmentioning

confidence: 78%

“…Previous reported cases of Klinefelter's syndrome with VTE have been associated with thrombophilia, specifically with antiphospholipid antibody syndrome [9,10]; heterozygosity for factor V Leiden mutation-1691G>A [11]; compound heterozygosity for factor V Leiden 1691G>A and prothrombin 20210G>A mutations [2,12]; increased activity of factor VIII coagulant (factor VIII:C) [13]; and homozygous MTHFR 1298A>C mutations [14].…”

Section: Discussionmentioning

confidence: 99%

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Recurrent deep vein thrombosis and pulmonary embolism in a young man with Klinefelterʼs syndrome and heterozygous mutation of MTHFR-677C>T and 1298A>C

Angel

Parker²,

Sells³

et al. 2010

Blood Coagulation & Fibrinolysis

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Klinefelter's syndrome is characterized by hypogonadism and infertility and commonly has an XXY karyotype. Within the population of men with this disorder, there is an increased incidence of venous thromboembolic disease. Although the precise mechanisms underlying this prothrombotic state have not been elucidated, it is thought that the increased incidence of thromboembolism is associated with a hypofibrinolytic state secondary to androgen deficiency. We present the case of a 26-year-old man with Klinefelter's syndrome who had recurrent episodes of deep venous thrombosis and pulmonary embolism while undergoing therapeutic anticoagulation. Coagulation studies were significant for the heterozygous mutations of MTHFR-677C>T and 1298A>C gene and hyperhomocystenemia. Our aim is to raise awareness of this association and discuss management for these patients.

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“…Impaired wound healing and spontaneous ulcerations in patients with Klinefelter's syndrome are said to be attributed to venous insufficiency and complicated by thromboembolic events. In some clinical reports an association of Klinefelter's syndrome with thrombophlebitis, 5 factor V Leiden mutation 6 or evidence of platelet hyperaggregability 7 had been found. Local impairment of fibrinolysis leading to the development of microthrombi may be other important factors in these thromboembolic processes 2 .…”

Section: Discussionmentioning

confidence: 99%

Increased activity of factor VIII coagulant associated with venous ulcer in a patient with Klinefelter's syndrome

Dissemond

Knab

Lehnen

et al. 2005

Acad Dermatol Venereol

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Klinefelter's syndrome is the most frequent major abnormality of sexual differentiation in men with two or more X chromosomes. Recurrent venous ulcers as a result of a post-thrombotic syndrome are a well known symptom in patients with Klinefelter's syndrome. Until now the underlying pathomechanisms are not completely understood. Platelet hyperaggregability, factor V Leiden mutation and abnormalities in fibrinolysis were implicated as possible contributing factors. Here we describe the detection of an increased activity of factor VIII coagulant (factor VIII:C). This is the first case report on increased factor VIII:C activity associated with venous ulcers in a patient with Klinefelter's syndrome. Elevated factor VIII plasma levels are gradually accepted to be associated with an increased risk for venous thromboembolism. Therefore, we discuss that the examination of factor VIII:C may help in clarifying individual thromboembolic risks, especially in patients with Klinefelter's syndrome.

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Thrombotic Klinefelter Syndrome Associated With Factor V Leiden Mutation

Cited by 9 publications

References 0 publications

MANAGEMENT OF ENDOCRINE DISEASE: Klinefelter syndrome, cardiovascular system, and thromboembolic disease: review of literature and clinical perspectives

MANAGEMENT OF ENDOCRINE DISEASE: Klinefelter syndrome, cardiovascular system, and thromboembolic disease: review of literature and clinical perspectives

Recurrent deep vein thrombosis and pulmonary embolism in a young man with Klinefelterʼs syndrome and heterozygous mutation of MTHFR-677C>T and 1298A>C

Increased activity of factor VIII coagulant associated with venous ulcer in a patient with Klinefelter's syndrome

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