Dupuytren's diathesis

Dupuytren's contracture is a visible and palpable palmar skin changes (pits, nodules) caused by thickening of the palmar fascia with cord like structures extending from the palm into the digits resulting in permanent flexion and/or adduction contracture of the metacarpo-phalangeal joint.

It may also progress to involve the digital inter-phalangeal joints as well (1).

• most commonly affected fingers (in decreasing order) are the fourth, fifth, third, and second (2).
• it is often bilateral and may affect the soles of the feet
• there is a nodular thickening of the connective tissue over the 4th and the 5th fingers

The prevalence of the disease may differ (from 2% to 42%) according to the selected population and increases with age and where there is a positive family history (3)

The disease is thought to affect more than 2 million people in UK (3).

• Dupuytren's disease typically affects elderly men of northern European descent
  • a strong familial component is recognised, and the pattern of inheritance has been suggested to be autosomal dominant with variable penetrance
• men typically present earlier (mean age 55 years) than women (10 years later) and have more severe disease (3)

Dupuytren's disease has many recognised associations (4):

• smoking and excessive alcohol intake are independent risk factors for disease development, and in both cases the relation is dose dependent
• chronic liver disease is not a risk factor independent of alcohol consumption
• diabetes. Diabetes mellitus has a strong association with Dupuytren's contracture and t​he prevalence of the disease in patients with diabetes ranges from 3% to 33%. It increases with the duration of the diabetes. (5). Diabetic patients tend to have a milder form of the disease
• hyperlipidaemia
  • patients with Dupuytren's disease have also been noted to have raised serum lipids compared with controls
• epilepsy
  • a link between Dupuytren's disease and epilepsy remains unclear, although latest evidence suggests that the association may be due to the effect of certain antiepileptic medications (6)
• manual labour and use of vibrating tools
  • also uncertainty around the association between Dupuytren's disease and manual labour, in particular the use of vibrating tools (6)

The disease is uncommon in people from southern European or South American countries and is rarely seen in African countries and in China (2).

There is often associated with involvement of other areas of the body - so called ectopic disease (3,4)

• Garrod's knuckle pads (44-54%), plantar fibromatosis (Ledderhose disease, 6-31%), and penile fibromatosis (Peyronie's disease, 2-8%) (3)
  • more aggressive form of the disease is known as Dupuytren's diathesis (3)
    • a diathesis is recognised in Dupuytren's disease and describes disease affecting patients younger than 50 years, white men with a strong family history, bilateral involvement, severe disease, and ectopic manifestations
    • recognition of this clinical type is essential, as it carries a more serious prognosis and warrants aggressive follow-up and treatment...(1,3)

Reference:

1. Black EM, Blazar PE. Dupuytren disease: an evolving understanding of an age-old disease. J Am Acad Orthop Surg. 2011 Dec;19(12):746-57.
2. Trojian TH, Chu SM. Dupuytren's disease: diagnosis and treatment. Am Fam Physician. 2007;76(1):86-9
3. Townley WA et al. Dupuytren's contracture unfolded. BMJ 2006;332; 397-400.
4. Salari N, Heydari M, Hassanabadi M, et al. The worldwide prevalence of the Dupuytren disease: a comprehensive systematic review and meta-analysis. J Orthop Surg Res. 2020 Oct 28;15(1):495.
5. Rydberg M, Zimmerman M, Löfgren JP, et al. Metabolic factors and the risk of Dupuytren's disease: data from 30,000 individuals followed for over 20 years. Sci Rep. 2021 Jul 19;11(1):14669.
6. Karbowiak M et al. Dupuytren's disease. BMJ 2021;373:n1308