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

Dissemond, Joachim; Knab, J; Lehnen, Michaela; Goos, M.

doi:10.1111/j.1468-3083.2004.01117.x

Cited by 25 publications

(18 citation statements)

References 21 publications

(31 reference statements)

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“…6 The increased thrombotic risk in those patients can be partially explained with hypofibrinolysis due to androgen deficiency. Additional genetic or acquired thrombophilic states, including factor V Leiden mutation, 8 antiphospholipid antibody syndrome, 9 G20210A prothrombin mutation plus factor V Leiden mutation, 7 and increased activity of factor VIII coagulant 10 were detected in KS patients complicated with venous thrombosis in isolated cases. To our knowledge, arterial thrombotic events have not been reported yet in KS patients.…”

Section: Discussionmentioning

confidence: 99%

“…To our knowledge, only 4 patients with KS complicated with venous thrombosis were reported to have additional thrombophilic states in the English literature. [7][8][9][10] However, no data are present concerning an association between KS complicated with arterial thrombosis and well-known thrombophilic states. We herein present a young man with KS who developed acute arterial thrombosis during testosterone replacement therapy.…”

mentioning

confidence: 99%

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Severe Arterial Thrombophilia Associated With a Homozygous MTHFR Gene Mutation (A1298C) in a Young Man With Klinefelter Syndrome

Özbek¹,

Öztürk

Üreten³

et al. 2008

Clin Appl Thromb Hemost

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Klinefelter syndrome (KS) is the most common sex chromosome disorder in men. It may be associated with an increased risk for venous thrombosis and thromboembolism, which is partially explained by hypofibrinolysis due to androgen deficiency. Additional genetic or acquired thrombophilic states have been shown in KS patients complicated with venous thrombosis as isolated case reports. Arterial thrombotic events had not been previously reported in KS. In this study, a young man with KS who developed acute arterial thrombosis during testosterone replacement therapy is presented. He was homozygous for the A1298C mutation of the methylenetetrahydrofolate reductase (MTHFR) gene.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Severe Arterial Thrombophilia Associated With a Homozygous MTHFR Gene Mutation (A1298C) in a Young Man With Klinefelter Syndrome

Özbek¹,

Öztürk

Üreten³

et al. 2008

Clin Appl Thromb Hemost

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“…Some case reports showed an improvement of leg ulcers and laboratory parameters with replacement therapy (110,111,122,123,135) (see Supplemental data 2). On the other hand, some authors suggested a detrimental role of testosterone therapy on the hemostatic balance (136).…”

Section: Thrombosis and Hemostasis In Klinefelter Syndromementioning

confidence: 99%

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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“…High FVIII levels were also recently reported in a patient with Klinefelter syndrome (XXY) and venous ulcerous and thrombotic disease [23]. …”

Section: Discussionmentioning

confidence: 99%

Portal Vein Thrombosis and High Factor VIII in Turner Syndrome

Zilz

Brenner²,

Elnecave³

2006

Horm Res Paediatr

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Backgrounds/Aims: Turner syndrome is not usually associated with thrombotic events. The aim of this study is to report 3 Turner syndrome patients with portal vein thrombosis and, in 2 of them, high factor VIII. These findings are compared to values in Turner syndrome patients without thrombosis and controls. Methods: In different years, 3 patients with Turner syndrome were initially seen at the Gastroenterology Clinic of Hospital de Clínicas de Porto Alegre, Brazil, for portal vein thrombosis. After the most common causes of portal vein thrombosis and thrombophilias had been excluded, the 2 surviving patients were studied for clotting factors VIII, IX and von Willebrand factor. The same factors were also assessed in 25 Turner syndrome patients without thrombosis and 25 normal girls. Results: One of the patients with portal vein thrombosis died before the study. In the 2 surviving patients, factors VIII and von Willebrand levels were >150 IU/dl, which is considered to be high. In Turner syndrome patients without thrombosis, the mean factor VIII level was 127.2 ± 41.1 IU/dl and for von Willebrand factor 101.2 ± 26.9 IU/dl, while in control girls these were 116.0 ± 27.6 and 94.28 ± 27.5 IU/dl, respectively. Factor VIII and von Willebrand factor were not different between these 2 groups. When non-O blood group Turner syndrome patients and normal girls were compared, the former had significantly higher levels of factor VIII. Conclusions: This is the first report on the unusual finding of portal thrombosis in patients with Turner syndrome in whom high levels of factor VIII and von Willebrand factor were found. Factor VIII is higher in the non-O blood group Turner syndrome patients without thrombosis when compared to normal girls.

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

Cited by 25 publications

References 21 publications

Severe Arterial Thrombophilia Associated With a Homozygous MTHFR Gene Mutation (A1298C) in a Young Man With Klinefelter Syndrome

Severe Arterial Thrombophilia Associated With a Homozygous MTHFR Gene Mutation (A1298C) in a Young Man With Klinefelter Syndrome

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

Portal Vein Thrombosis and High Factor VIII in Turner Syndrome

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