Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0034065 (pulmonary embolism)
 14,979 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In a series of 412 patients with Klinefelter's syndrome observed over periods ranging from 1 to 20 years, the frequency of hypostatic ulceration, deep vein thrombosis and pulmonary embolism was found to be raised. The prevalence of past or present hypostatic ulceration was 6%, which is 20-50 times higher than in the general population. The incidence of deep vein thrombosis in subjects aged between 30 and 70 years was 22.8 cases per 10,000 patient-years at risk. In community studies the incidence of this condition is around 4 new cases per 10,000 men per year. The frequency of pulmonary embolism was 16 cases per 10,000 patient-years at risk, compared with an expected figure of 0.9 to 3 cases per 10,000 men per year.
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PMID:Venous thromboembolic disease in Klinefelter's syndrome. 727 69

Klinefelter's syndrome is the most common cause of primary testicular failure, resulting in impairment of both spermatogenesis and testosterone production. It is a chromosomal disorder characterized by small, firm testes, azoospermia, gynecomastia, varying degrees of eunuchoidism and testosterone deficiency with elevated gonadotropin plasma levels. In Klinefelter's syndrome there is an increase of certain systemic diseases including venous thromboembolism. An increased thromboembolic risk in hypogonadic men has been explained with hypofibrinolysis due to androgen deficiency. Only two cases have been reported about the association between Klinefelter's syndrome and well-known congenital or acquired thrombophilias. We report the case of a 39-year-old patient with Klinefelter's syndrome who underwent severe deep venous thrombosis with pulmonary embolism, in the absence of any circumstantial triggering event. Further examinations also showed a double heterozygosis for G20210A prothrombin and factor V Leiden mutations. This case suggests that the increased thromboembolic risk, reported in Klinefelter's syndrome, can be worsened by the co-existence of one or more well-known thrombophilic conditions, as shown by the relatively young age of the patient. More studies are needed to clearly understand the pathogenesis of venous thromboembolism in males affected by Klinefelter's syndrome.
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PMID:Severe venous thromboembolism in a young man with Klinefelter's syndrome and heterozygosis for both G20210A prothrombin and factor V Leiden mutations. 1254 36

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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PMID:Recurrent deep vein thrombosis and pulmonary embolism in a young man with Klinefelter's syndrome and heterozygous mutation of MTHFR-677C>T and 1298A>C. 2044 91

We report a case of a 35 year old male with severe deep vein thrombosis of the lower limb on both sides and pulmonary embolism. A Klinefelter's mosaic (47,XXY [81%]/48,XXXY [19%]) was diagnosed. Because no other cause for this thromboembolism was found, we assume that in part, it was caused by the Klinefelter's mosaic. In all male patients presenting with thromboembolism, especially those with an unusual habitus, a Klinefelter's syndrome should be considered as differential diagnosis. Testosterone substitution therapy should be started in all patients with Klinefelter's syndrome to prevent further disease.
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PMID:[35-year old patient with severe thromboembolism]. 2106 75

Klinefelter's syndrome, which is characterized by small testes, gynecomastia, hypogonadism, and infertility, is the most common cause of primary testicular failure, and commonly has an XXY karyotype. Deep vein thrombosis and thomboembolic events are a rare occurrence in these patients. Although the exact mechanism is not completely understood, it is thought that increased thromboembolic risk in hypogonadic men can be explained by hypofibrinolysis resulting from androgen deficiency. We present the case of a 48-year-old man with Klinefelter's syndrome who experienced recurrent episodes of deep venous thrombosis and pulmonary embolism while undergoing therapeutic anticoagulation. Our report discusses this association and management of the prothrombotic state in patients with Klinefelter's syndrome.
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PMID:Recurrent deep vein thrombosis and pulmonary embolism in a patient with Klinefelter's syndrome. 2305 3