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Legg-Perthes disease in three siblings, two heterozygous and one homozygous for the factor V Leiden mutation
1Division of Hematology/Oncology, Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.
Insights
Factor V Leiden mutation, a cause of thrombophilia, was linked to Legg-Perthes disease in a three-generation family. Homozygous and heterozygous carriers showed varying severity of this hip disorder.
Area of Science:
- Genetics
- Orthopedics
- Hematology
Background:
- Familial thrombophilia, characterized by mutations like Factor V Leiden, increases clotting risk.
- Legg-Perthes disease is a childhood hip disorder of unknown etiology.
Observation:
- A family exhibited three-generation transmission of the Factor V Leiden mutation.
- Three siblings within this family developed Legg-Perthes disease.
- Disease severity in siblings correlated with Factor V Leiden mutation status (heterozygous vs. homozygous).
Findings:
- The study identified a novel association between Factor V Leiden mutation and Legg-Perthes disease.
- Genetic thrombophilia is implicated as a potential pathoetiologic factor in Legg-Perthes disease development.
- This family's data provides strong evidence linking inherited clotting disorders to hip pathology.
Implications:
- Understanding the genetic basis of Legg-Perthes disease may lead to new diagnostic approaches.
- Thrombophilia screening could be considered in pediatric patients with Legg-Perthes disease.
- This research opens avenues for exploring the role of vascular and clotting abnormalities in bone disorders.
Abstract:
A family is described with three-generation transmission of factor V Leiden (a thrombophilic mutation that causes resistance to activated protein C). Legg-Perthes disease developed in three siblings in this family. The male proband and his sister were heterozygous for the mutation and had unilateral hip disease at age 2 years. The brother, who had bilateral hip disease, was homozygous. This novel family provides compelling evidence for the pathoetiologic role of familial thrombophilia in Legg-Perthes disease.