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Journal of Bone and Joint Surgery - British Volume, Vol 86-B, Issue 3, 426-429.
doi: 10.1302/0301-620X.86B3.13442  
Copyright © 2004 by British Editorial Society of Bone and Joint Surgery
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The most severe forms of Perthes’ disease associated with the homozygous Factor V Leiden mutation

K. Szepesi, MD, Dsc, Professor and Head of Department1; E. Pósán, MD, PhD, Assistant Professor2; J. Hársfalvi, MD, PhD, Associate Professor3; É Ajzner, MD, Assistant Professor3; G. Szücs, MD, Assistant Professor of Anaesthesiology1; L. Gáspár, MD, PhD, Associate Professor1; Z. Csernátony, MD, PhD, Assistant Professor1; and M. Udvardy, MD, Dsc, Professor and Head of Department2

1 Department of Orthopaedic Surgery
2 Second Department of Medicine
3 Department of Clinical Biochemistry and Molecular Pathology, University of Debrecen, Medical and Health Science Center, H-4012 Debrecen, Nagyerdei str. 98, Hungary.

Correspondence should be sent to Professor K. Szepesi.

It has recently been postulated that thrombophilia may have a role in the aetiology of Perthes’ disease. The published reports, however, remain conflicting. In this study a retrospective analysis of the coagulation parameters was made in 47 patients with Perthes’ disease and the results compared with the clinical data. Five patients with Factor V Leiden mutation were found (10.6%) and surprisingly four of them had a homozygous pattern. These four patients showed the most severe form of the disease, Catterall group IV, with flattening of the entire epiphysis, involvement of the metaphysis, shortening and broadening of the femoral neck, trochanteric overgrowth and developed mushroom-shaped aspherical laterally displaced femoral heads in dysplastic acetabula.

We would like to suggest that the homozygous form of Factor V Leiden mutation has some role in the clinical course of Perthes’ disease and particularly its most severe form.




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