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 Coagulation and Fibrinolysis

Volumn 21, Issue 4, 2010, Pages 372-375

  Angel, Joel R ^a   Parker, Stacey ^a   Sells, Ryan E ^a   Atallah, Ehab ^b  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

^b Department of Medicine   (United States)

Author keywords

Deep vein thrombosis; Klinefelter's syndrome; Methyltetrahydrofolate reductase; Pulmonary embolism

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; DALTEPARIN; ENOXAPARIN; FUROSEMIDE; HEPARIN; TRIACYLGLYCEROL LIPASE; WARFARIN;

ADULT; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ANTICOAGULATION; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BACKACHE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DEEP VEIN THROMBOSIS; DISEASE EXACERBATION; DRUG WITHDRAWAL; DYSPNEA; ELECTROCARDIOGRAPHY; ENZYME BLOOD LEVEL; FLU LIKE SYNDROME; GENE MUTATION; HUMAN; INTERNATIONAL NORMALIZED RATIO; KLINEFELTER SYNDROME; LUNG EMBOLISM; MALE; PRIORITY JOURNAL; SURGICAL THROMBECTOMY; THORAX PAIN;

ANTICOAGULANTS; HETEROZYGOTE; HUMANS; KLINEFELTER SYNDROME; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MUTATION; PULMONARY EMBOLISM; VENOUS THROMBOSIS; YOUNG ADULT;

EID: 77951915862     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/MBC.0b013e32833894eb     Document Type: Article

References (25)

1. Swerdlow AJ, Higgins CD, Schoemaker MJ, Wright AF, Jacobs PA. United Kingdom Clinical Cytogenetics Group. Mortality in patients with Klinefelter syndrome in Britain: a cohort study. J Clin Endocrinol Metab 2005; 90: 6516-6522.
2. Lapecorella M, Marino R, De Pergola G, Scaraggi FA, Speciale V, De Mitrio V. Severe venous thromboembolism in a young man with Klinefelter's syndrome and heterozygosis for both G20210A prothrombin and factor V Leiden mutations. Blood Coagul Fibrinolysis 2003; 14: 95-98.
3. Campbell WA, Price WH. Venous thromboembolic disease in Klinefelter's syndrome. Clin Genet 1981; 19: 275-280.
4. Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E. Klinefelter's syndrome. Lancet 2004; 364: 273-283.
5. Smyth CM, Bremner WJ. Klinefelter syndrome. Arch Intern Med 1998; 158: 1309-1314.
6. Pergola G, Mitrio V, Sciaraffia M, Pannacciulli N, Minenna A, Giorgino F, et al. Low androgenicity is associated with higher plasma levels of prothrombotic factors irrespective of age, obesity, body fat distribution, and related metabolic parameters in men. Metabolism 1997; 46: 1287-1293.
7. Rosedaal FR, Helmerhorst FM, Vandenbroucke JP. Oral contraceptives hormone replacement therapy and thrombosis. Thromb Haemost 2001; 86: 112-123.
8. Higgins EJ, Tidman MJ, Savidge GF, Beard J, MacDonald DM. Platelet hyperaggregability in two patients with Klinefelter's syndrome complicated by leg ulcers. Br J Dermatol 1989; 120:322.
9. Mount GR, Roebuck JD. Antiphospholipid syndrome in a 21-year-old with Klinefelter syndrome. J Clin Rheumatol 2009; 15: 27-28.
10. Ranganath LR, Jones L, Lim AG, Gould SR, Goddard PF. Thrombophilia in a man with long-standing hypogonadism. Postgrad Med J 1997; 73: 761-763.
11. Depaire-Duclos F, Gris JC, Dandurand M, Guillot B. Thrombotic Klinefelter syndrome associated with factor V Leiden mutation. Arch Dermatol 1997; 133: 1051-1052.
12. Ayli M, Ertek S. Serious venous thromboembolism, heterozygous factor V Leiden and prothrombin G20210A mutations in a patient with Klinefelter syndrome and type 2 diabetes. Intern Med 2009; 48: 1681-1685.
13. Dissemond J, Knab J, Lehnen M, Goos M. Increased activity of factor VIII coagulant associated with venous ulcer in a patient with Klinefelter's syndrome. J Eur Acad Dermatol Venereol 2005; 19: 240-242.
14. Ozbek M, Oztürk MA, Ureten K, Ceneli O, Erdogan M, Haznedaroglu IC. Severe arterial thrombophilia associated with a homozygous MTHFR gene mutation (A1298C) in a young man with Klinefelter syndrome. Clin Appl Thromb Hemost 2008; 14: 369-371.
15. Kasten R, Pfirrman G, Voigtlander V. Klinefelter's syndrome associated with mixed connective tissue disease (Sharp's syndrome) and thrombophilia with postthrombotic syndrome. J Dtsch Dermatol Ges 2005; 3: 623-626.
16. Veraart JCJM, Hamulyak K, Neumann HAM, Engelen J. Increased plasma activity of plasminogen activator inhibitor 1 (PAI-1) in two patients with Klinefelter's syndrome complicated by leg ulcers. Br J Dermatol 1994; 130: 641-644.
17. 17Ramaker J, Goerdt S, Zouboulis CC, Schramm W, Orfanos CE. Recurrent thrombophlebitis and ulcera crurum as manifestations of hereditary blood coagulation disorders and Klinefelter syndrome. Discussion based on 4 clinical case examples. Hautarzt 1997; 48: 634-639.
18. Spier C. Recurrent leg ulcerations as the initial clinical manifestation of Klinefelter's syndrome. Arch Dermatol 1995; 131:230.
19. Tapson VF. Acute pulmonary embolism. N Engl J Med 2008; 358: 1037-1052.
20. Zollner TM, Veraart JC, Wolter M, Hesse S, Villemur B, Wenke A, et al. Leg ulcers in Klinefelter's syndrome: further evidence for an involvement of plasminogen activator inhibitor-1. Br J Dermatol 1997; 136: 341-344.
21. Naess IA, Christiansen SC, Romundstad PR, Cannegieter SC, Blom HJ, Rosendaal FR, Hammerstrøm J. Prospective study of homocysteine and MTHFR 677TT genotype and risk for venous thrombosis in a general population-results from the HUNT 2 study. Br J Haematol 2008; 141: 529-535.
22. Ray JG. Hyperhomocystenemia: no longer a consideration in the management of venous thromboembolism. Curr Opin Pulm Med 2008; 14: 369-373.
23. Domagala TB, Adamek L, Nizankowski E, Sanak M, Szczeklik A. Mutations C677T and A1298C of the 5, 10-methylenetetrahydrofolate reductase gene and fasting plasma homocysteine levels are not associated with the increased risk of venous thromboemobolic disease. Blood Coagul Fibrinolysis 2002; 13: 423-431.
24. Cattaneo M. Hyperhomocysteinemia and venous thromboembolism. Semin Thromb Hemost 2006; 32: 716-723.
25. Winkler UH. Effects of androgens on haemostasis. Maturitas 1996; 24: 147-155.