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.

Keywords:
Turner syndrome, Portal vein thrombosis, Factor VIII, Von Willebrand factor, Thrombosis
1.
Sybert VP, McCauley E: Turner’s syndrome. N Engl J Med 2004;351:1223–1238.
2.
Ranke MB, Saenger P: Turner’s syndrome. Lancet 2001;358:309–314.
3.
Saenger P, Wirkland KA, Conway GS, Davenport M, Gravholt CH, Hintz R, Hovatta O, Hultcrantz M, Landin-Wilhelmsen K, Lin A, Lippe B, Pasquino AM, Ranke MB, Rosenfeld R, Silberbach M: Recommendations for the diagnosis and management of Turner syndrome. J Clin Endocrinol Metab 2001;86:3061–3069.
4.
Frias JL, Davenport ML, Committee on Genetics and Section on Endocrinology: Health supervision for children with Turner syndrome. Pediatrics 2003;111:692–702.
5.
Gravholt CH, Juul S, Naeraa RW, Hansen J: Morbidity in Turner syndrome. J Clin Epidemiol 1998;51:147–158.
6.
Pinto RB, Silveira TR, Bandinelli E, Röhsig L: PVT in children and adolescents: the low prevalence of hereditary thrombophilic disorders. J Pediatr Surg 2004;39:1356–1361.
7.
Koster T, Blann AD, Briët E, Vandenbroucke JP, Rosendaal FR: Role of clotting factor VIII in effect of von Willebrand factor on occurrence of deep-vein thrombosis. Lancet 1995;345:152–155.
8.
van Hylckama Vlieg A, van der Linden IK, Bertina RM, Rosendaal FR: High levels of factor IX increase the risk of venous thrombosis. Blood 2000;95:3678–3682.
9.
Meijers JCM, Tekelenburg WLH, Bouma BN, Bertina RM, Rosendaal FR: High levels of coagulation factor XI as a risk factor for venous thrombosis. N Engl J Med 2000;342:696–701.
10.
Bertina RM: Elevated clotting factor levels and venous thrombosis. Pathophysiol Haemost Thromb 2003/2004;33:399–400.
11.
Kyrle PA, Minar E, Hirschl M, Bialonczyk C, Stain M, Schneider B, Weltermann A, Speiser W, Lechner K, Eichinger S: High plasma levels of factor VIII and the risk of recurrent venous thromboembolism. N Engl J Med 2000;343:457–462.
12.
Kamphuisen PW, Eikenboom JCJ, Bertina RM: Elevated factor VIII levels and the risk of thrombosis. Arterioscler Thromb Vasc Biol 2001;21:731–738.
13.
Kyrle PA, Minar E, Bialonczyk C, Hirschl M, Weltermann A, Eischinger S: The risk of recurrent venous thromboembolism in men and women. N Engl J Med 2004;350:2558–2563.
14.
Kurekci AE, Gokce H, Akar N: Factor VIII levels in children with thrombosis. Pediatr Int 2003;45:159–162.
15.
Goldenberg NA, Knapp-Clevenger R, Manco-Johnson MJ: Elevated plasma factor VIII and d-dimer levels as predictors of poor outcomes of thrombosis in children. N Engl J Med 2004;351:1081–1088.
16.
Brandenburg VM, Frank RD: Elevated levels of factor VIII:C as a possible risk factor for portal, splenic and mesenteric vein thrombosis. Gastroenterology 2001;120:1563–1564.
17.
Günther R, Folsch UR: Pfortaderthrombose bei einem Patienten mit erhöhtem Faktor-VIII-Spiegel und von-Willebrand-Faktor. Z Gastroenterol 2002;40:409–412.
18.
Julapalli VR, PF Bray, Duchini A: Elevated factor VIII and portal vein thrombosis. Dig Dis Sci 2003;48:2369–2371.
19.
Hoppener MR, Kraaijenhagen RA, Hutten BA, Büller HR, Peters RJG, Levi M: Beta-receptor blockade decreases elevated plasma levels of factor VIII:C in patients with deep vein thrombosis. J Thromb Haemost 2004;2:1316–1320.
20.
Martinelli I: Von Willebrand factor and factor VIII as risk factors for arterial and venous thrombosis. Semin Hematol 2005;42:49–55.
21.
Lenting PJ, van Mourik JA, Mertens K: The life cycle of coagulation factor VIII in view of its structure and function. Blood 1998;92:3983–3996.
22.
Chuansumrit A, Sasanakul W, Goodeve A, Treratvirapong T, Parinayok R, Pintadit P, Hathirat P: Inversion of intron 22 of the factor VIII gene in a girl with severe hemophilia A and Turner’s syndrome. Thromb Haemost 1999;82:1379 (abstract).
23.
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.
24.
Van Hylckama Vlieg A, Callas PW, Cushman M, Bertina RM, Rosendaal FR: Inter-relation of coagulation factors and d-dimer levels in healthy individuals. J Thromb Haemost 2003;1:516–522.
25.
Franchini M, Lippi G: Von Willebrand factor and thrombosis. Ann Hematol 2006; Mar 28 (epub ahead of print).
26.
Rosendaal F, Bovill E: Heritability of clotting factors and the revival of the prothrombotic state. Lancet 2002;359:638–639.
27.
Ho VB, Bakalov VK, Cooley M, Van PL, Hood MN, Burklow TR, Bondy CA: Major vascular anomalies in Turner syndrome: prevalence and magnetic resonance angiographic features. Circulation 2004;110:1694–1700.
28.
Roulot D, Degott C, Chazouillères O, Frederic O, Calès P, Carbonell N, Benferhat S, Bresson-Hadni S, Valla D: Vascular involvement of the liver in Turner syndrome. Hepatology 2004;39:239–247.
29.
Chan NN, Vallance P, Colhoun HM, MacAllister RJ, Hingorani AD, Conway GS: The effects of hormone replacement therapy on endothelial function in women with Turner’s syndrome. Clin Endocrinol (Oxf). 2002;56:615–620.
30.
Kyrle PA: Idiopathic venous thrombosis. Long-term anticoagulant therapy? No. Hämostaseologie 2006;26:52–54.
31.
Helmerhorst FM, Bloemenkamp KWM, Rosendaal FR, Vandenbroucke JP: Oral contraceptives and thrombotic disease: risk of venous thromboembolism. Thromb Haemost 1997;78:327–333.
32.
Legnani C, Cini M, Cosmi B, Poggi M, Boggian O, Palareti G: Risk of deep vein thrombosis: interaction between oral contraceptives and high factor VIII levels. Haematologica 2004;89:1347–1351.
33.
Rosendaal FR, Bovill EG: Heritability of clotting factors and the revival of the prothrombotic state. Lancet 2005;359:638–639.
34.
Christiansen SC, Cannegieter SC, Koster T, Vandenbroucke JP, Rosendaal FR: Thrombophilia, clinical factors, and recurrent venous thrombotic events. JAMA 2005;293:2352–2361.
35.
Brandenburg H, Steegers EAP, Gittenberge de Groot AC: Potential involvement of vascular endothelial growth factor in pathophysiology of Turner syndrome. Med Hypotheses 2005;65:300–304.
36.
Andrew M, Vegh P, Johnston M, Bowker J, Ofosu F, Mitchell L: Maturation of the hemostatic system during childhood. Blood 1992;80:1998–2005.
© 2006 S. Karger AG, Basel
2006
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.