Dupuytren's disease

Dupuytren`s disease or contracture is a painless fibrosis of the palmar fascia that causes flexion of one or more fingers of the hand, so that they cannot be fully stretched. The prevalence of the disease increases with age being 10% between 45-55 years and reaches 25% in those over 75.

The causes that give rise to the disease are unknown. Studies have shown that it has an important genetic component and that, in addition, there are risk factors that favor its appearance, 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 the symptoms are usually more evident in men.
  • Ethnic origin: it is more common in people from Northern Europe.
  • Habitual use of vibratory machinery.
  • Some diseases such as diabetes, liver disease or epilepsy.
  • Habitual 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 tender, but is painless. Over time, a cord may form that extends to the fingers and closes the hand. In advanced stages of the disease, affected persons cannot fully open the hand and have trouble grasping objects.

Prevention

So far, there are no known measures to prevent Dupuytren`s disease, however, once diagnosed there are treatments that help in the management of 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 contraction usually returns with 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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