Ask Dr. Stephan Moll

These questions have been submitted by folks on the mailing list and answered by Dr. Moll, Director of the Thrombophilia Program at the Carolina Cardiovascular Biology Center, Department of Medicine, Division of Hematology-Oncology, UNC Chapel Hill (North Carolina, USA). Why am I doing this?

64. Legg-Perthes disease and thrombophilia

Q: "I am a 47 year old female diagnosed with heterozygous factor V Leiden after having 2 DVTs a couple of years ago. I also would like to add that I was diagnosed with having Legg-Perthes disease when I was 5 years old. I recently found an article regarding Legg-Perthes disease and a possible link with thrombophilia. I'd be very interested to hear more about such a link, if, in fact, there is one."

A: The evidence for a link between clotting abnormalities and Legg-Perthes disease is weak and inconsistent. Thrombophilias do not appear to be major causes of Legg-Perthes disease. From the data available to date it does not appear justified to test patients with Legg-Perthes disease for the various thrombophilias.

Legg-Perthes disease is a disorder occurring in children, in which interruption of blood flow (= ischemia) to the head of the thigh bone leads to death of that bone (= necrosis) and to poor hip joint function. Some relatively small studies have found a hint of evidence that patients with thrombophilias, such as protein C deficiency, factor V Leiden, and possibly protein S deficiency, have an increased risk of Legg-Perthes disease 1,2. Other small studies have not found an association between thrombophilia and Legg-Perthes disease 3,4. Taking these studies together it appears fair to conclude that thrombophilias do not seem to be major causes of Legg-Perthes disease.

References

1. The role of protein C, protein S, and resistance to activated protein C in Legg-Perthes disease. Pediatrics 2001;107:1329-34. (57 patients studied).
2. Inherited risk factors for thrombophilia among children with Legg-Calve-Perthes disease. Journal of Pediatric Orthopedics 1999;19:84-7. (61 children studied).
3. Does thrombophilia play an aetiologic role in Legg-Calve-Perthes disease? Journal of Bone & Joint Surgery - British Volume 1999;81:686-90. (62 patients studied).
4. Prospective reevaluation of the association between thrombotic diathesis and Legg-Perthes disease. Journal of Bone & Joint Surgery - American Volume 2002;84-A:1613-8.
   

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