[Incidence of thrombophilic factor V Leiden and prothrombin G20210A mutation in Perthes disease--a pilot study].

Abstract

AIM:

Thrombophilic mutations may play a role in the pathogenesis of the juvenile osteonecrosis of the femoral head, Perthes' disease. We investigated whether children with Perthes' disease have an increased incidence of mutations of factor V (Leiden) and prothrombin (G2O210A), which predispose to thrombosis.

METHODS:

For this pilot study, we analysed the data of twenty consecutive children (16 boys, 4 girls, mean age at diagnosis 6.4 years). According to Catterall's classification of severity, 2 children were in group 1, 7 in group 2, 8 in group 3, and 3 were in the most severe group 4. Mutations of factor V and prothrombin were identified in EDTA-blood by PCR amplification, digestion with restriction enzymes, and gel electrophoresis.

RESULTS:

Heterozygoty for the factor V mutation was detected in two children, for the prothrombin mutation in one child. Both results did not differ significantly from the incidence in Germany, which is 0.05 for factor V mutations and 0.04 for prothrombin mutations.

CONCLUSIONS:

For the presented group of children with Perthes' disease, we did not find an increased rate of factor V or prothrombin mutations compared to the natural incidence. In accordance to other recent studies, our results do not support a link between inherited thrombophilic mutations and Perthes' disease.

• Authors: A Schmitz, J Pförtner, A Protzel, U Harbrecht
• Journal: Zeitschrift fur Orthopadie und ihre Grenzgebiete (Z Orthop Ihre Grenzgeb) 2001 Mar-Apr Vol. 139 Issue 2 Pg. 143-6 ISSN: 0044-3220 [Print] Germany
• Vernacular Title: Häufigkeit der thrombophilen Faktor-V-Leiden- und Prothrombin-G20210A-Mutation bei Morbus Perthes--Eine Pilotstudie.
• PMID: 11386104 (Publication Type: English Abstract, Journal Article)

Chemical References

• factor V Leiden
• Factor V
• Prothrombin

Topics

• Alleles
• Child
• Child, Preschool
• Factor V (genetics)
• Female
• Genetic Predisposition to Disease (genetics)
• Germany
• Humans
• Incidence
• Legg-Calve-Perthes Disease (blood, genetics, surgery)
• Male
• Mutation (genetics)
• Pilot Projects
• Polymerase Chain Reaction
• Prothrombin (genetics)
• Thrombophilia (blood, genetics)