The importance of genetic susceptibility in Dupuytren's disease.

Abstract

Dupuytren's disease (DD) is a progressive fibromatosis that causes the formation of nodules and cords in the palmar aponeurosis leading to flexion contracture of affected fingers. The etiopathogenesis is multifactorial with a strong genetic predisposition. It is the most frequent genetic disorder of connective tissues. We have collected clinical data from 736 unrelated individuals with DD who underwent surgical treatment from Germany and Switzerland. We evaluated a standardised questionnaire, assessed the importance of different risk factors and compared subgroups with and without positive family history. We found that family history clearly had the strongest influence on the age at first surgery compared to environmental factors, followed by male sex. Participants with a positive family history were on average 55.9 years of age at the first surgical intervention, 5.2 years younger than probands without known family history (p = 6.7 × 10(-8) ). The percentage of familial cases decreased with age of onset from 55% in the 40-49 years old to 17% at age 80 years or older. Further risk factors analysed were cigarettes, alcohol, diabetes, hypertension, and epilepsy. Our data pinpoint the importance of genetic susceptibility for DD, which has long been underestimated.

DOI: 10.1111/cge.12410
0102030201520162017
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@article{Becker2015TheIO, title={The importance of genetic susceptibility in Dupuytren's disease.}, author={K F Becker and Sigrid Tinschert and Andrew R Lienert and Paul Eugen Bleuler and Fabienne Staub and Arbash Meinel and Jochen R{\"{o}ssler and Wojciech Wach and Rainer Hoffmann and Friederike Kuehnel and H G Damert and H E Nick and R Spicher and Wolfgang Lenze and Martin Langer and Peter N{\"{u}rnberg and Hans Christian Hennies}, journal={Clinical genetics}, year={2015}, volume={87 5}, pages={483-7} }