The information – Dupuytren’s disease

The patient’s unmet needs (PUNs)

A 62-year-old man attends complaining of lumps in his hands and a curling of his little fingers bilaterally. ‘I think it’s Dupuytren’s contracture,’ he says. ‘My dad had it. I think it’s affecting my soles, too.’ Examination of his hands confirms that his self-diagnosis is probably correct. ‘What is it, exactly, and why have I got it?’ he asks. ‘Is it just my genes?’ He adds, ‘I don’t want surgery because my dad had awful trouble after his operation. Would a splint stop it getting worse? Or what about that injection treatment help I’ve read about?’

The doctor’s educational needs (DENs)

What is Dupuytren’s disease? Why does it develop in some people and how strong is the hereditary component?

Dupuytren’s disease is a progressive fibro-proliferative disorder in which normal fascial attachments of the skin of the palm and fingers proliferate and contract, leading to palpable nodules and cords under the skin and flexion contractures of the fingers. The ring and little fingers are the most frequently affected. Patients often complain of the bent fingers sticking into their eyes, being unable to clean their face or flat surfaces, an inability to put their hands in their pockets, and occasionally tenderness.

Dupuytren’s disease is thought to develop following micro-trauma (sustained in normal activity) to the palmar tissue. In most people, these unnoticeable injuries would heal uneventfully, but in those with a genetic susceptibility, the normal inflammatory process progresses to excessive fibromatosis and contracture.

Despite the traumatic aetiology, there is no increase in incidence in those subjected to manual labour compared to non-manual labourers, so the level of trauma must be very minor and of a nature experienced with usual daily activities. Dupuytren’s disease does seem to be provoked by hand and wrist trauma, such as distal radius fractures, but this may be a factor of the immobilisation and localised inflammatory or neurological responses associated with the fracture.

The genetic component is likely to be multi-factorial. A recent genome-wide association study found links with nine genes, six of which were related to the Wnt pathway – a highly-conserved pathway essential for growth and development. If someone has a sibling with Dupuytren’s disease, the relative risk of developing Dupuytren’s disease is 4.5 times that of the general population.

What is the differential diagnosis?

The diagnosis of Dupuytren’s disease is clinical. Examination findings of palpable nodules and cords causing contracture, with a history of slow onset and progressive nature, are diagnostic. Early disease can be very difficult to diagnose, as can some conditions in which secondary thickening of the palmar fascia and skin can occur.

The causes of flexion contractures of the fingers include:

• Trigger finger – there will be a history of triggering and intermittent flexion contracture, and no nodules or cords.
• Locked metacarpophalangeal joint – very sudden onset of contracture unlike progressive Dupuytren’s, no cords.
• Flexion contracture post-injury to the proximal interphalangeal joint (PIPJ), flexor tendons, extensor tendons – a history of trauma and scarring can mimic Dupuytren’s disease, but the pattern may be unusual.
• Flexion contracture following nerve palsy, spasticity, stroke – no palpable cords, loss of sensation is rare in untreated Dupuytren’s disease.
• Flexion contracture associated with extreme old age, dystonia, habitual, or functional – no palpable cords or nodules
• Congenital contracture of the little finger PIP joint – camptodactyly

What conditions are associated with it and are any tests required to rule these out?

Historically, Dupuytren’s disease was associated with alcoholism, diabetes, and epilepsy medication. However, the strongest association is with family history. No tests are required as the associations are weak.

Does it affect areas other than the palms?

Dupuytren’s disease can affect the dorsal surface of the hand, particularly over the proximal interphalangeal joint, producing nodules called knuckle pads or Garrod’s pads, and present as fibrous growths deep to the skin over the joints. Some Garrod’s pads are not related to Dupuytren’s disease. The nodules are frequently tender as they are easily exposed to trauma.

Dupuytren’s disease can also produce nodules around the base of the wrist at the entrance to Guyon’s canal. Dupuytren’s disease is associated with a similar condition affecting the soles of the feet (plantar fibromatosis) and the fascia of the penis (Peyronie’s).

Are conservative measures of any use? What injection is the patient referring to – and how effective is it?

Splinting of the hand has been attempted but has not been shown to prevent either development or progression of the contracture. Radiotherapy in the early stages of disease, particularly prior to contracture, may delay development or progression of contracture, but will not correct pre-existing contractures. It is difficult to predict which patients might benefit from radiotherapy, as the natural history of the disease is such that early stage Dupuytren’s disease (such as nodules or non-contracting cords) does not predict later development of contractures.

Once contractures have developed, intervention is indicated if they prevent the patient from being able to place their hand flat on the table (the table top test). Contractures affecting only the metacarpophalangeal joint with a well-developed, easily palpable cord are the best suited to less invasive techniques such as needle fasciotomy (aponeurotomy), collagenase injections or segmental fasciotomy, whereby only a small segment of the cord is excised. Needle aponeurotomy involves inserting a needle into the cord and dividing it mechanically, using the sharp edge of the needle tip, to divide the cord and then manipulating the joint into extension. The small skin puncture wound and possible skin tear form manipulation are left to heal with dressings.

Collagenase injections into the Dupuytren’s cord can enzymatically disrupt the cord. The injection is performed in outpatients and the following day, under local anaesthesia, the finger is manipulated to correct the flexion contracture. There may be a skin tear associated with correction of the flexion contracture, which is dressed. Only one digit can be treated at a time, with a 30-day interval between successive treatments. Quite marked bruising, blood blisters and swelling can occur secondary to the inflammatory response to the enzymatic debris. Some systemic effects, such as lymphadenopathy and influenza-like symptoms, can also occur. The recurrence rate and delay to recurrence is better than needle aponeurotomy, as the collagenase disrupts a segment of diseased cord.

In most other cases of flexion contracture, surgical intervention (usually under local or regional anaesthesia) is the best treatment in terms of correction of the contracture and prevention of recurrence. However, surgery may require a two-week period of dressings and prolonged rehabilitation and hand therapy of up to three months.

Whatever surgical technique is used, Dupuytren’s disease has a tendency to affect other digits or recur in the same digit in more than 50% of patients.

Mr Henk Giele is a plastic reconstructive and hand surgeon, with a research and clinical interest in Dupuytren’s disease, at Oxford University Hospitals. He is medical trustee for the British Dupuytren’s Society, the patient organisation for Dupuytren’s disease and associated conditions.

Further reading

Towney W, Baker R, Sheppard N, Grobbelaar AO. Dupuytren’s contracture unfolded. BMJ, 2006;332(7538):397-400

Hart M, Hooper G. Clinical associations of Dupuytren’s disease. Postgrad Med J, 2005;81(957):425-28