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. Blood Coagul Fibrinolysis 2010 Jun;21(4):372-5
Date
05/08/2010Pubmed ID
20449891DOI
10.1097/mbc.0b013e32833894ebScopus ID
2-s2.0-77951915862 (requires institutional sign-in at Scopus site) 11 CitationsAbstract
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.
Author List
Angel JR, Parker S, Sells RE, Atallah EAuthor
Ehab L. Atallah MD Professor in the Medicine department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AnticoagulantsHeterozygote
Humans
Klinefelter Syndrome
Male
Methylenetetrahydrofolate Reductase (NADPH2)
Mutation
Pulmonary Embolism
Venous Thrombosis
Young Adult
