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A Twin Study of Perthes Disease
David Metcalfe1, Stephanie Van Dijck2, Nicolas Parsons3
1Center for Surgery and Public Health, Harvard Medical School, Boston, Massachusetts; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, United Kingdom; Warwick Medical School, University of Warwick, Coventry, United Kingdom;
Legg-Calvé-Perthes disease (LCPD) shows familial clustering but no clear genetic link. The risk for a co-twin to develop LCPD remains low, even in identical twins.
Area of Science:
- Orthopedics
- Genetics
- Epidemiology
Background:
- Legg-Calvé-Perthes disease (LCPD) is idiopathic avascular necrosis of the femoral head.
- Etiology is poorly understood; low birth weight and genetics are suspected factors.
- This study investigates birth weight and genetic associations with LCPD.
Purpose of the Study:
- To determine if birth weight is associated with LCPD.
- To investigate the genetic component of LCPD using twin studies.
- To assess familial aggregation and concordance rates for LCPD.
Main Methods:
- Utilized the Danish Twin Registry (DTR) to identify twin pairs with LCPD.
- Analyzed health record linkage data for 81 twin pairs (10 MZ, 51 DZ, 20 UZ).
- Calculated probandwise concordance to estimate LCPD likelihood in co-twins.
Main Results:
- No association found between birth weight and LCPD.
- Four pairs (2 DZ, 2 UZ) were concordant for LCPD, indicating familial aggregation.
- Monzygotic (MZ) twins showed 0.00 concordance; dizygotic (DZ) twins showed 0.08 concordance.
Conclusions:
- Evidence suggests familial clustering of LCPD, but not a strong genetic component.
- The absolute risk for a co-twin to develop LCPD is low.
- Identical twins (MZ) had no observed concordance for LCPD in this study.
