Legg-calve-perthes disease, venous and arterial thrombi, and the factor V leiden mutation in a four-generation kindred

Journal of Pediatric Orthopaedics

Volumn 27, Issue 7, 2007, Pages 834-837

  Glueck, Charles J ^a,b   Tracy, Trent ^a   Wang, Ping ^a  

^a JEWISH HOSPITAL   (United States)

^b Cholesterol Center   (United States)

Author keywords

Deep venous thrombosis; G1691A factor V Leiden mutation; Legg Calve Perthes disease; Pulmonary embolus; Retinal artery thrombosis; Thrombophilia

Indexed keywords

BLOOD CLOTTING FACTOR 5 LEIDEN;

ADULT; ARTERY THROMBOSIS; ARTICLE; CONTROLLED STUDY; FAMILY RELATION; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC SCREENING; GENOTYPE; HETEROZYGOSITY; HUMAN; LEG THROMBOSIS; LUNG EMBOLISM; PERTHES DISEASE; PRIORITY JOURNAL; RETINA ARTERY; SCHOOL CHILD; THROMBOEMBOLISM; VENOUS THROMBOEMBOLISM; VERTICAL TRANSMISSION;

ADULT; CHILD; FACTOR V; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HETEROZYGOTE; HUMANS; LEGG-PERTHES DISEASE; MALE; MUTATION; PEDIGREE; THROMBOPHILIA;

EID: 34548800390     PISSN: 02716798     EISSN: None     Source Type: Journal    
DOI: 10.1097/BPO.0b013e31815584bf     Document Type: Article

References (50)

1. Bjorkman A, Svensson PJ, Hillarp A, et al. Factor V Leiden and prothrombin gene mutation: risk factors for osteonecrosis of the femoral head in adults. Clin Orthop Relat Res. 2004;(425):168-172.
2. Boss JH, Misselevich I. Osteonecrosis of the femoral head of laboratory animals: the lessons learned from a comparative study of osteonecrosis in man and experimental animals. Vet Pathol 2003;40:345-354.
3. Glueck CJ, Freiberg RA, Fontaine RN, et al. Anticoagulant therapy for osteonecrosis associated with heritable hypofibrinolysis and thrombophilia. Expert Opin Investig Drugs. 2001;10:1309-1316.
4. Glueck CJ, Freiberg RA, Wang P. Role of thrombosis in osteonecrosis. Curr Hematol Rep. 2003;2:417-422.
5. Jones JP. Risk factors potentially activating intravascular coagulation and causing nontraumatic osteonecrosis. In: Urbaniak JR, Jones JP Jr., eds. Osteonecrosis: Etiology, Diagnosis, and Treatment. Rosemont, IL: American Academy of Orthopaedic Surgeons; 1997:89-97.
6. Jones LC, Mont MA, Le TB, et al. Procoagulants and osteonecrosis. J Rheumatol. 2003;30:783.
7. Koo KH, Kim R, Cho SH, et al. Angiography, scintigraphy, intraosseous pressure, and histologic findings in high-risk osteonecrotic femoral heads with negative magnetic resonance images. Clin Orthop. 1994;(308):127-138.
8. Laroche M. Intraosseous circulation from physiology to disease. Joint Bone Spine. 2002;69:262-269.
9. Liu SL, Ho TC. The role of venous hypertension in the pathogenesis of Legg-Perthes disease. A clinical and experimental study. J Bone Joint Surg Am. 1991:73:194-200.
10. Norman D, Miller Y, Sabo E, et al. The effects of enoxaparin on the reparative processes in experimental osteonecrosis of the femoral head of the rat. APMIS. 2002;110:221-228.
11. Zalavras CG, Vartholomatos G, Dokou E, et al. Genetic background of osteonecrosis: associated with thrombophilic mutations? Clin Orthop. 2004;(422):251-215.
12. Balasa VV, Gruppo RA, Glueck CJ, et al. Legg-Calve-Perthes disease and thrombophilia. J Bone Joint Surg Am. 2004;86-A:2642-2647.
13. Glueck CJ, Freiberg RA, Sieve L, et al. Enoxaparin prevents progression of stages I and II osteonecrosis of the hip. Clin Orthop Relat Res. 2005;(435):164-170.
14. Aksoy MC, Aksoy DY, Haznedaroglu IC, et al. Enhanced tissue factor pathway inhibitor response as a defense mechanism against ongoing local microvascular events of Legg-Calve-Perthes disease. Pediatr Hematol Oncol. 2005;22:391-399.
15. Glueck CJ, Glueck HI, Greenfield D, et al. Protein C and S deficiency, thrombophilia, and hypofibrinolysis: pathophysiologic causes of Legg-Perthes disease. Pediatr Res. 1994;35:383-388.
16. Glueck CJ, Crawford A, Roy D, et al. Association of antithrombotic factor deficiencies and hypofibrinolysis with Legg-Perthes disease. J Bone Joint Surg Am. 1996;78:3-13.
17. Glueck CJ, Brandt G, Gruppo R, et al. Resistance to activated protein C and Legg-Perthes disease. Clin Orthop. 1997;(338):139-152.
18. Gruppo R, Glueck CJ, Wall E, et al. Legg-Perthes disease in three siblings, two heterozygous and one homozygous for the factor V Leiden mutation. J Pediatr. 1998;132:885-888.
19. Arruda VR, Belangero WD, Ozelo MC, et al. Inherited risk factors for thrombophilia among children with Legg-Calve-Perthes disease. J Pediatr Orthop. 1999;19:84-87.
20. Szepesi K, Posan E, Harsfalvi J, et al. The most severe forms of Perthes' disease associated with the homozygous factor V Leiden mutation. J Bone Joint Surg Br. 2004;86:426-429.
21. Eldridge J, Dilley A, Austin H, et al. The role of protein C, protein S, and resistance to activated protein C in Legg-Perthes disease. Pediatrics. 2001;107:1329-1334.
22. Hresko MT, McDougall PA, Gorlin JB, et al. Prospective reevaluation of the association between thrombotic diathesis and Legg-Perthes disease. J Bone Joint Surg Am. 2002;84-A:1613-1618.
23. Lopez-Franco M, Gonzalez-Moran G, De Lucas JC, Jr., et al. Legg-Perthes disease and heritable thrombophilia. J Pediatr Orthop. 2005;25:456-459.
24. Kealey WD, Mayne EE, McDonald W, et al. The role of coagulation abnormalities in the development of Perthes' disease. J Bone Joint Surg Br. 2000;82:744-746.
25. Schmitz A, Pfortner J, Protzel A, et al. Incidence of thrombophilic factor V Leiden and prothrombin G20210A mutation in Perthes disease - a pilot study. Z Orthop Ihre Grenzgeb. 2001;139:143-146.
26. Sirvent N, Fisher F, el Hayek T, et al. Absence of congenital prethrombotic disorders in children with Legg-Perthes disease. J Pediatr Orthop B. 2000;9:24-27.
27. Hayek S, Kenet G, Lubetsky A, et al. Does thrombophilia play an aetiological role in Legg-Calve-Perthes disease? J Bone Joint Surg Br. 1999;81:686-690.
28. Lieberman JR. Core decompression for osteonecrosis of the hip. Clin Orthop. 2004;(418):29-33.
29. Assouline-Dayan Y, Chang C, Greenspan A, et al. Pathogenesis and natural history of osteonecrosis. Semin Arthritis Rheum. 2002;32:94-124.
30. Yrjonen T. Long-term prognosis of Legg-Calve-Perthes disease: a meta-analysis. J Pediatr Orthop B. 1999;8:169-172.
31. Balasa VV, Gruppo RA, Glueck CJ, et al. The relationship of mutations in the MTHFR, prothrombin, and PAI-1 genes to plasma levels of homocysteine, prothrombin, and PAI-1 in children and adults. Thromb Haemost. 1999;81:739-744.
32. Bertina RM, Reitsma PH, Rosendaal FR, et al. Resistance to activated protein C and factor V Leiden as risk factors for venous thrombosis. Thromb Haemost. 1995;74:449-453.
33. Bjorgell O, Nilsson PE, Nilsson JA, et al. Location and extent of deep vein thrombosis in patients with and without FV:R 506Q mutation. Thromb Haemost. 2000;83:648-651.
34. Goldhaber SZ. Prevention of recurrent idiopathic venous thromboembolism. Circulation. 2004;110:IV20-IV24.
35. Ma AD, Abrams CS. Activated protein C resistance, factor V Leiden, and retinal vessel occlusion. Retina. 1998;18:297-300.
36. Glueck CJ, Wang P, Bell H, et al. Associations of thrombophilia, hypofibrinolysis, and retinal vein occlusion. Clin Appl Thromb Hemost. 2005;11:375-389.
37. Juul K, Tybjaerg-Hansen A, Schnohr P, et al. Factor V Leiden and the risk for venous thromboembolism in the adult Danish population. Ann Intern Med. 2004;140:330-337.
38. Gallus AS. Management options for thrombophilias. Semin Thromb Hemost. 2005;31:118-126.
39. Glueck CJ, Pranikoff J, Aregawi D, et al. The factor V Leiden mutation, high factor VIII, and high plasminogen activator inhibitor activity: etiologies for sporadic miscarriage. Metabolism. 2005;54:1345-1349.
40. Kutteh WH, Triplett DA. Thrombophilias and recurrent pregnancy loss. Semin Reprod Med. 2006;24:54-66.
41. Mohllajee AP, Curtis KM, Martins SL, et al. Does use of hormonal contraceptives among women with thrombogenic mutations increase their risk of venous thromboembolism? A systematic review. Contraception. 2006;73:166-178.
42. Dentali F, Crowther M, Ageno W. Thrombophilic abnormalities, oral contraceptives, and risk of cerebral vein thrombosis: a meta-analysis. Blood. 2006;107:2766-2773.
43. Beaule PE, Jarvis JG, Castle WG, et al. Protein-c deficiency in a patient with Legg-Calve-Perthes disease and recurrent deep vein thrombosis. Orthopedics. 2002;25:541-543.
44. Levin C, Zalman L, Shalev S, et al. Legg-Calve-Perthes disease, protein C deficiency, and beta-thalassemia major: report of two cases. J Pediatr Orthop. 2000;20:129-131.
45. Bjorkman A, Burtscher IM, Svensson PJ, et al. Factor V Leiden and the prothrombin 20210A gene mutation and osteonecrosis of the knee. Arch Orthop Trauma Surg. 2005;125:51-55.
46. Zalavras CG, Vartholomatos G, Dokou E, et al. Genetic background of osteonecrosis: associated with thrombophilic mutations? Clin Orthop Relat Res. 2004;(422):251-255.
47. Arlet J, Ficat P. Diagnosis of primary femur head osteonecrosis at stage 1 (preradiologic stage). Rev Chir Orthop Reparatrice Appar Mot. 1968;54:637-648.
48. Hofmann S, Mazieres B. Osteonecrosis: natural course and conservative therapy. Orthopade. 2000;29:403-410.
49. Koo KH, Kim R, Ko GH, et al. Preventing collapse in early osteonecrosis of the femoral head. A randomised clinical trial of core decompression. J Bone Joint Surg Br. 1995;77:870-874.
50. Stulberg BN, Davis AW, Bauer TW, et al. Osteonecrosis of the femoral head. A prospective randomized treatment protocol. Clin Orthop. 1991;(268):140-151.