Is Dupuytren's Contracture Hereditary?

Is Dupuytren's Contracture Hereditary? 

Dupuytren disease is genetic. It runs in families – but how? It depends on ancestry, age, gender, and

relatives. Of everyone with Dupuytren disease, only one in five have bent fingers, and only a portion are bent enough to need a corrective procedure. Not everyone with Dupuytren has bent fingers. Dupuytren disease is any Dupuytren changes of the palms — nodules, puckered skin, or cords. Dupuytren contracture is Dupuytren disease plus bent fingers.

Genetic Predisposition: 

• Studies have shown that individuals with a family history of Dupuytren's contracture are at an increased risk of developing the condition. 

• The heritability of Dupuytren's contracture is estimated to be around 80%, meaning that 80% of the variation in the risk of developing the condition is due to genetic factors. 

• Several genes have been identified as potential risk factors for Dupuytren's contracture, including TGF-β1, EXT1, and BMP4. 

The most significant overall risk for developing Dupuytren is Northern European ancestry. This may be due to a higher prevalence of the genetic risk factors for the condition in these populations. The timeline depends on age and gender. One in ten men of European ancestry will have Dupuytren by their 50s and one in four by age 70. The percentage of affected women lags 15 to 20 years behind men.

The inheritance pattern of Dupuytren's contracture is complex and not fully understood. It is believed to be an autosomal dominant disorder, meaning that a person only needs to inherit one copy of a mutated gene from either parent to develop the condition.

However, not everyone who inherits the mutated gene develops Dupuytren's contracture, suggesting that other factors may also play a role:

• Lifestyle (smoking, drinking, heavy hand use at work or play)

• Medical issues (diabetes)

• Local trauma (accidental injury, surgery)

• Other unknown factors may also affect whether someone with the genes develops the condition.

Based on current scientific evidence, if both parents have Dupuytren, each child has roughly a 3:1 odd of eventually developing Dupuytren. Research has found that patients with one affected parent needed a finger-straightening procedure an average of four years younger than those with no affected parents. If both parents had Dupuytren, they averaged six years younger at their first procedure. Other researchers have also reported that if both family lines are affected, children are more likely to need treatment at a younger age or have more severe biology. People who need their first procedure at a younger age are more likely to have recurrence after treatment.

Treatment options include:

• Observation: If the contracture is mild and not causing significant functional impairment, observation may be recommended. 

• Collagenase injections: Injections of an enzyme called collagenase can break down the thickened cords, improving finger mobility. 

• Surgery: Surgery may be necessary for severe contractures that interfere with daily activities. Surgical techniques include fasciectomy (removal of the thickened cords) or needle aponeurotomy (puncturing and breaking down the cords). 

Prognosis: Dupuytren's contracture is a progressive condition, but the rate of progression varies between individuals. With treatment, most people can improve their hand function and reduce the severity of the contracture. However, recurrence is possible.