Serious venous thromboembolism, heterozygous factor V Leiden and prothrombin G20210A mutations in a patient with Klinefelter syndrome and type 2 diabetes

Internal Medicine

Volumn 48, Issue 18, 2009, Pages 1681-1685

  Ayli, Meltem ^a   Ertek, Sibel ^a  

^a UFUK UNIVERSITY   (Turkey)

Author keywords

Diabetes; Factor V Leiden; Klinefelter; Prothrombin G20210A; Venous thromboembolism; XXY

Indexed keywords

BLOOD CLOTTING FACTOR 5 LEIDEN; METFORMIN;

ADULT; ANTICOAGULATION; ARTICLE; BLOOD CLOTTING TIME; BODY MASS; CASE REPORT; DIABETES MELLITUS; GENE MUTATION; HETEROZYGOTE; HUMAN; KARYOTYPE; KLINEFELTER SYNDROME; LUNG EMBOLISM; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; RISK FACTOR; VENOUS THROMBOEMBOLISM;

ADULT; DIABETES COMPLICATIONS; DIABETES MELLITUS, TYPE 2; FACTOR V; HETEROZYGOTE; HUMANS; KLINEFELTER SYNDROME; MALE; POINT MUTATION; PROTHROMBIN; PULMONARY EMBOLISM; VENOUS THROMBOEMBOLISM;

EID: 70349495651     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.48.1985     Document Type: Article

References (39)

1. Klinefelter HT Jr. Reifenstein EC Jr, Albright F. Syndrome characterized by gynecomastia, aspermatogenesis without a-Leydigism and increased excretion of follicle stimulating hormone. J Clin Endocr Metab 2: 615-624, 1942.
2. Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E. Kleinefelter syndrome. Lancet 364: 273-283, 2004.
3. Thomas NS, Hassold TJ. Aberrant recombination and origin of Kleinefelter syndrome. Hum Reprod Update 9: 307-317, 2003.
4. Okada H, Fujioka H, Tatsumi N, et al. Klinefelter's syndrome in the male infertility clinic. Hum Reprod 14: 946-952, 1999.
5. Bojesen A, Juul S, Gravholt JH. Prenatal and postnatal prevalence of Klinefelter syndrome: national registry study. J Clin Endocr Metab 88: 622-626, 2003.
6. Abramsky L, Chappe J. 47 XXY (Klinefelter syndrome) and 47 XYY: estimated rates and indication of postnatal diagnosis with implications for prenatal counselling. Prenat Diagn 17: 363-368, 1997.
7. Winkler UH. Effects of androgens on haemostasis. Maturitas 24: 147-155, 1996.
8. Pergola G, Mitrio V, Sciaraffia M, 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 46: 1287-1293, 1997.
9. Rosedaal FR, Helmerhorst FM, Vandenbroucke JP. Oral contraceptives hormone replacement therapy and thrombosis. Thromb Haemost 86: 112-123, 2001.
10. Campbell WA, Price WH. Venous thromboembolic disease in Klinefelter's syndrome. Clin Genet 19: 275-280, 1981.
11. 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 3: 623-626, 2005.
12. Ozbek M, Ozturk MA, Ureten K, Ceneli O, Erdogan M, Haznedaroglu IC. Severe arterial thrombophiliaassociated with a homozygous MTHFR gene mutation (A1298C) in a young man with Klinefelter syndrome. Clin Appl Thromb Hemost 14: 369-371, 2007.
13. Depaire-Duclos F, Gris JC, Dandurand M, Guillot B. Thrombotic Klinefelter syndrome associated with Factor V Leiden mutation. Arch Dermatol 133: 1051-1052, 1997.
14. Ranganath LR, Jones L, Lim AG, Gould SR, Goddard PF. Thrombophilia in a man with longstanding hypogonadism. Postgrad Med J 73: 761-763, 1997.
15. Lapecorella M, Marino R, Pergola G, Scaraggi FA, Speciale V, Mitrio V. Severe venous thromboembolism in a young man with Klinefelter syndrome and heterozygosis for both G20210A prothrombin and factor V Leiden mutations. Blood Coag Fibrinolysis 14: 95-98, 2003.
16. Ramaker 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 48: 634-639, 1997.
17. Disemond J, Knab J, Lehnen M, Goos M. Increased activity of factor VIII coagulant associated with venous ulcer in patients with Klinefelter's syndrome. J Eur Acad Dermatol Venereol 19: 240-242, 2005.
18. Bennet A, Sie P, Caron P, et al. Plasma fibrinolytic activity in a group of hypogonadic men. Scand J Clin Lab Invest 47: 23-27, 1987.
19. Caron P, Bennet A, Camare R, Louvet JP, Boneu B, Sie P. Plasminogen activator inhibitor in plasma is related to testosterone in men. Metabolism 38: 1010-1015, 1989.
20. Zollner TM, Veraart JC, Wolter M, et al. Leg ulcers in Klinefelter's syndrome - further evidence for an involvement of plasminogen activator inhibitor-1. Br J Dermatol 136: 341-344, 1997.
21. Hooper W, Austin C, Lally H, et al. The association between diabetes and venous thromboembolism in African Americans and Caucasians and the relationship between PPAR-gamma polymorphisms. J Thromb Haemost 3 (suppl 1): P2228, 2005.
22. Keenan CR, Murin S, White RH. High risk for venous thromboembolism in diabetics with hyperosmolar state: comparison with other acute medical illnesses. J Thromb Haemost 5: 1185-1190, 2007.
23. Gill GV, MacNamara G, English P. Diabetic ketoacidosis complicated by axillar vein thrombosis. Diabetes Res Clin Pract 73: 104-106, 2006.
24. Petrauskiene V, Falk M, Waernbaum I, Norberg M, Eriksson JW. The risk of venous thromboembolism is markedly elevated in patients with diabetes. Diabetologia 48: 1017-1021, 2005.
25. Ray JG, Lonn E, Yi Q, et al. Venous thromboembolism in association with features of the metabolic syndrome. Q J Med 100: 679-684, 2007.
26. Eichiner S, Hron G, Bialonczyk C, et al. Overweight, obesity and the risk of recurrent venous thromboembolism. J Intern Med 168: 1678-1683, 2008.
27. Goichot B, Grunebaum L, Desprez D, et al. Circulating procoagulant microparticles in obesity. Diabetes Metab 32: 82-85, 2006.
28. Prandoni P. Links between arterial and venous disease. J Intern Med 262: 341-350, 2007.
29. Linnemann B, Zgouras D, Schindewolf M, Schwonberg J, Jarosch-Preusche M, Lindhoff-Last E. Impact of sex and traditional cardiovascular risk factors on the risk of recurrent venous thromboembolism: results from the German MAISTHRO Registry. Blood Coag Fibrinolysis 19: 159-165, 2008.
30. Ageno W, Becattini C, Brighton T, Selby R, Kamphuisen PW. Cardiovascular risk factors and venous thrombosis; a meta analysis. Circulation 117: 93-102, 2008.
31. Nielsen J, Johansen K, Yde H. Frequency of diabetes mellitus in patints with Klinefelter's syndrome of different chromosome constitutions and the XYY syndrome. Plasma insulin and growth hormone level after a glucose load. J Endocrinol Metab 29: 1062-1073, 1969.
32. Price WH, Clayton JF, Wilson J, et al. Cuses of death in X chromatin positive males (Klinefelter's syndrome). Epidemiol Community Health 39: 330-336, 1985.
33. Ishikawa T, Yamaguchi K, Kondo Y, Takenaka A, Fujisawa M. Metabolic syndrome in men with Klinefelter's syndrome. Urology 71: 1109-1113, 2008.
34. Serra W, Iaco G, Reverberi C, Gherli T. Pulmonary embolism and patent foramen ovale thrombosis: the key role of TEE. Cardiovascular Ultrasound 5: 26-31, 2007.
35. Evans M, Yazdani F, Manick H, Shah JJ, Turner DPJ. Prosthetic valve endocarditis due to Neisseria elongata subsp. elongata in a patient with Klinefelter's syndrome. J Medical Microbiol 56: 860-862, 2007.
36. De Stefano V, Martinelli I, Manucci PM, et al. The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. N Eng J Med 341: 801-806, 1999.
37. Cattaneo M, Chantarangkul V, Taioli E, Santos JH, Tagliabue L. The G20210A mutation of the prothrombin gene in patients with previous first episodes of deep-vein thrombosis: prevalence and association with factor V G1691A, methylenetetrahydrofolate reductase C677T and plasma prothrombin levels. Thromb Res 93: 1-8, 1999.
38. Kabukcu S, Keskin N, Keskin A, Atalay E. The frequency of factor V Leiden and the concomitance of factor V Leiden with prothrombin G20210A mutation and methylenetetrahydrofolate reductase C677T gene mutation in healthy population of Denizli, Aegean region of Turkey. Clin Appl Thromb Hemost 13: 166-171, 2007.
39. Vink R, Kraaijenhagen RA, Levi M, Buller HR. Individualized duration of oral anticoagulant therapy for deep vein thrombosis, based on a decision model. J Thromb Haemost 1: 2523-2530, 2003.