Dupuytren's disease

Dupuytren's disease or contracture is a painless fibrosis in the palmar fascia that causes the flexion of one or more fingers of the hand, preventing them from being fully extended. The prevalence of the disease increases with age, being 10% among those aged 45-55 and reaching 25% in those over 75.

The causes of the disease are unknown. Studies have shown that it has a significant genetic component and that there are also risk factors that favor its onset, such as the following:

  • Age: it occurs more frequently after the age of 50.
  • Sex: it is more common in men than in women, and in men, the symptoms are usually more evident.
  • Ethnic origin: it is more common in people from Northern Europe.
  • Habitual use of vibrating machinery.
  • Some diseases such as diabetes, liver disease, or epilepsy.
  • Regular consumption of tobacco and alcohol.

Symptoms

The first physical manifestation of the disease is the presence of a nodule in the palm of the hand that may be sensitive but is painless. Over time, a cord can form that extends to the fingers and gradually closes the hand. In the advanced stages of the disease, affected individuals cannot fully open their hand and have difficulty grasping objects.

Prevention

Until now, no measures are known to prevent Dupuytren's disease, however, once diagnosed, there are treatments that help manage the pathology such as surgery (in severe cases), radiation therapy (especially in early stages), or steroid or collagenase injections. Any treatment can provide early relief as the contracture usually returns over time.

Number of observed variants

13.5 million variants

Number of risk loci

42 loci

Genes analyzed

ANTXR1 BCAR1 BOP1 CDKL1 CDKN1A CFTR CLINT1 DDR2 DMRT2 DUXA EBF2 ERG FGFR2 IKBKE ISG20 ISYNA1 KDR LDHAL6B LPIN1 MAFB MMP14 NEDD4 NME8 NUAK2 PDGFA PJA2 PTPN4 RAB31 RSPO2 SFRP2 SFRP4 SULF1 SUMO4 WNT7B ZBTB40

Bibliography

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