It’s important to understand the difference between Dupuytren disease (any Dupuytren like changes in the hand – with or without contracture) and Dupuytren contracture (a bent finger due to Dupuytren like changes).
An unsolved issue is variability of disease. It is not known what percent of people with early Dupuytren changes (a lump, a cord without contracture) will progress to severe contracture and need treatment – or how to predict this. Some conditions such as diabetes may produce changes in the hands which look like Dupuytren disease, but don’t progress.
Because we don’t yet have clues other than how it behaves, people who have Dupuytren like changes in their hand are given the diagnosis of Dupuytren disease, but may not have the gene(s), and may or may not ever develop Dupuytren contracture. As an example of this, if you go to a diabetic clinic (where everyone has diabetes) looking for Dupuytren disease, you will find a higher than average number of people with Dupuytren like changes in their hands. But if you go to a Dupuytren surgery clinic (where everyone has Dupuytren contractures needing treatment), you won’t find a higher than average number of patients with diabetes. Diabetes is a risk factor for Dupuytren disease, but probably not for Dupuytren contracture. The same is true for people taking anticonvulsant medication and, based on data from my Dupuytren practice, probably for high cholesterol levels. Based on this and other published information, I propose that Dupuytren disease be stratified into three subgroups.
- Type 1 Dupuytren disease is aggressive, early onset (usually diagnosed younger than age 50), frequently progressing to contracture, frequently recurrent after treatment, frequently associated with disease beyond the palm such as knuckle pads and Ledderhose disease, and frequently a strong family history of Dupuytren contracture. This has previously been referred to as Dupuytren diathesis and probably represents an aggressive genetic variant, possibly with involvement of several genes. This represents about 3% of patients with a Dupuytren diagnosis.
- Type 2 Dupuytren disease is less aggressive, later age of onset (usually older than 50 at the time of diagnosis), less frequently progressing to contracture, slower to recur after treatment, less frequently associated with disease beyond the palm, and less often a family history of Dupuytren contracture. This probably represents the effect of some genetic influence, in some cases magnified by provocative effects of factors such as diabetes, certain medications, abnormal lipid profile, heavy manual labor and others.
- Type 3 Dupuytren disease is not associated with a family history, does not progress to severe contracture, rarely associated with disease beyond the palm. This probably represents the provocative effect of factors such as diabetes, certain medications (most notably anticonvulsants), abnormal lipid profile, heavy manual labor and others. For example, some cases of Type 3 Dupuytren disease may actually be diabetic stiff hand syndrome, which can appear similar to early Dupuytren disease. This clinical pattern is probably not genetic and does not place family descendants at risk for Dupuytren contracture.
What’s the percent breakdown of subgroups Type 2 vs. Type 3? Unknown, because we lack a Dupuytren biomarker. Currently, Dupuytren disease is at the same point that cardiovascular disease was before the Framingham study showed that high cholesterol levels are a biomarker for cardiovascular disease risk. Based on the Framingham study data, treatments aimed at reducing cholesterol as a molecular target dramatically reduced the risk of stroke, heart attack and early death from cardiovascular disease. Only those with abnormal biomarkers need to be treated.
What we need to do is identify Dupuytren biomarkers for these subgroups and develop the Dupuytren equivalent of cholesterol lowering drugs. Type 1 Dupuytren disease really needs a medicine, but Type 3 probably doesn’t need any. This understanding is the core goal of the Dupuytren Foundation’s International Dupuytren Data Bank: understand the basis of disease, develop an antidote for those who need it, and let everyone get on with their lives.
Charles Eaton MD