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The word “diathesis” is used in medicine (or was - it's rarely heard these days) to mean a predisposition to a disease or an allergy. Normally the predisposition is understood to be hereditary but it may also be constitutional.
By way of anecdote, illustration, and example, the following passage is taken from one of the earliest documents that link “diathesis” and “Dupuytren”.
In 1878, Dr. William Adams wrote,
“With regard to the cause of this affection, most authorities agree in assigning it, in the great majority of cases, to a local cause, and believe it to be produced by pressure from the use of tools in various occupations; and it is said that carpenters, gardeners, and gunners, are especially liable to it.
Sir James Paget refers to the elder men occupied in wire-drawing and lock and key-making, as being subject to this condition.
It is also generally admitted that this form of contraction may take place from constitutional causes, independently of any local cause, and that it is then traceable to a gouty diathesis.
Sir James Paget points out the dependence of this contraction in some cases upon the gouty diathesis and believes that the adhesion of the palmar fascia to the adjacent sheaths of tendons and the integuments forms a point of diagnosis.
My own opinion is that it nearly always depends upon a constitutional rather than on any local cause, and essentially, I regard it as depending upon a gouty diathesis. In favour of this opinion, I would refer, first, to the class of patients in whom it occurs.
During a connection of more than twenty years with the Royal Orthopaedic Hospital, I have seen but very few cases of Dupuytren's contracture in the labouring class; and the cases that did present themselves generally occurred in butlers and in-door servants.
It seems, however, to be an affection of common occurrence in the middle and upper classes of society. The cases which have fallen under my observation have occurred in clergymen, barristers, medical men, officers of the army and navy, and merchants; the only condition common to the whole series being a disposition to gout.
Coexisting with the finger-contraction, in the cases which I have seen there have been generally other manifestations of a gouty tendency, more especially to that form we recognise as rheumatic gout affecting several articulations and often causing enlargement of the joints of the fingers rather than true inflammatory gout, affecting the great toe.
Secondly, I would refer to the frequent occurrence of this affection in the left hand only, and to its occurrence in both hands, which we can hardly explain by any local cause.
Thirdly, I would refer to the fact that in several instances I have known two brothers suffer from it; and in some cases, the father and son have been similarly affected; so that, for these reasons, I am disposed to attach far greater importance to the constitutional than to any local cause.”
(Adams, W. (1878). Contraction of the Fingers (Dupuytren’s Contracture), and its successful Treatment by Subcutaneous Divisions of the Palma Fascia, and Immediate Extension. British Medical Journal 1, 928.)
In 1990, a famous and respected Australian hand surgeon named John Hueston reintroduced the concept of Dupuytren's diathesis. He remarked,
“Derived from the Greek root to dispose or distribute, the word diathesis can be seen to give a guide to the disposition of what the Oxford English Dictionary terms 'a permanent condition of the body which renders it liable to a special disease'. This permanence has been demonstrated to depend on an inherited genetic pattern or 'disposition' of the chromosomal material responsible for the development of Dupuytren's disease. Therefore, it should be clear that it is impossible for a patient with Dupuytren's disease to have no diathesis.”
He goes on to state that stronger diathesis is indicated if the person with the disease is young, also has Ledderhose disease or Garrod’s pads, and the disease has exhibited a rapid onset and progress.
Stronger diathesis is also likely if the person has “several close blood relations with Dupuytren's disease”, but he points out that “the absence of a family history should not lead [one] into presuming a low” diathesis, because many people never realise they have the disease.
He remarks that, “attempts to grade numerically the degree of diathesis have not yet appeared in the literature but should [in any case] be regarded with a healthy scepticism in this essentially clinical process of individual assessment.”
Hueston, J. (1990). Dupuytren’s diathesis. In Dupuytren’s Disease Biology and Treatment, R.M. McFarlane, D. McGrouther, and M.H. Flint, eds. (Churchill Livingstone), pp. 246–252.
Two years later, in 1992, John Hueston clarified the concept by explaining,
“Diathesis is just an old-fashioned term for the variable penetration of an autosomal dominant.”
In less technical English, he is saying that diathesis is a genetically-determined characteristic that you can inherit from either parent - “autosomal” means that the genes are not carried by the X or Y chromosomes. Having inherited it, you may not necessarily exhibit the characteristic.
Hueston continues,
“The diathesis is present in every member of a Dupuytren family. If the diathesis is very low, there will be no clinical manifestation of Dupuytren's Disease, but it may appear after an injury, either to the hand or to that upper limb, such as a fracture or elbow dislocation or even a mastectomy.
If the diathesis is mild it will be manifest as a mild disease with no indication for surgery.
If the diathesis is less mild, disease requiring surgery will appear but no recurrence will follow.
If the diathesis is stronger there will be recurrence in the operated field, but probably not extensive enough to require secondary surgery.
If the diathesis is very strong, as is often the case in young patients, we can expect early recurrence and the need for radical surgical intervention.
A clinical assessment of the strength of this diathesis should be attempted, but is by no means infallible.”
Hueston, J. (1992). Lessons in Dupuytren’s Disease. Ann Hand Surg. 11, 349–354.
The word is very frequently misused in more recent writings on Dupuytren's disease, so that “diathesis” is used as if it were synonymous with “strong diathesis”.
We can read, for example, “Patients with these associated findings are considered to have a Dupuytren diathesis and are prone to progressive and recurrent disease.”
In other papers we can find direct misquotes of Hueston, as for example, in:
"Some clinical characteristics of patients with DD are related to a more aggressive course of the disease or diathesis. In 1963, Hueston postulated the idea of a DD diathesis and described 4 factors defining this subset of disease: early onset of disease, bilateral involvement, positive family history, and the presence of ectopic lesions (knuckle pads, Ledderhose disease, and Peyronie’s disease).
In 2006, male sex as a diathesis factor was added, “early onset of disease” was refined to age of onset younger than 50 years, and the ectopic lesions were restricted to the presence of knuckle pads only."
What factors do I look at to place myself on the diathesis graph?
Unfortunately, at the moment we haven't got the objective information to make the graph anything but conceptual.
On the genetic axis of the diagram we don't yet even know what genes are involved, which alleles of those genes make a difference, or what difference they make. We know that genes are involved, and that there are quite a large number of them, that they are located on different chromosomes and more or less where those locations are within the chromosome. If I can make a very loose analogy, we know that the taste of the meal we're cooking is influenced by the contents of jars from the spice rack, but we don't yet know which spice does what, or even how many jars are involved in any given attempt at making the dish. And to push that analogy a bit further, we also know that the dish is influenced by which shelf in the supermarket we get stuff from, but we can't yet read any of the labels on any of the cans or boxes.
On the other axis, we know that people who exhibit the disease early in life very often (but not always) develop the disease faster and suffer more pronounced symptoms than people who develop it later. There's some evidence that women tend to develop it faster than men, but it's not terribly solid evidence yet. So, all we can say at the moment about that axis is that if you're diagnosed with the disease as a 20-year old, and particularly if you're a woman, you belong to a population that in general has a high diathesis. But your mileage may vary. Everyone is different, and it's only when large numbers of people are seen as a group that some patterns vaguely appear.
All this is very frustrating and can be pretty frightening, but that's where we are with our understanding. And unfortunately, the data are extremely scattered. It's very unusual for anyone to collect enough data on enough people for long enough to begin to pick the story apart. Most of us aren't so interested in taking part in clinical trials - particularly as members of control groups - and most doctors and surgeons aren't all that interested in organising and finding funding for the research. There are many other diseases with higher priority for one reason or another.
In 2011 researchers in the Netherlands looked at the genetics of 933 people with Dupuytren's disease.
They examined 9 sections of the genome which they had previously found were implicated in Dupuytren's disease. People with the disease are more likely to have abnormal genes in some of these 9 sections than in others, and they used this to create a weighted index of genetic risk for each person.
They found that people with a high genetic risk index were also more likely than the others
- to have had Dupuytren's disease start before they were 50,
- to know other people in the family with the disease, and
- to have knuckle pads (Garrod’s pads).
Ledderhose disease was not a good predictor of high genetic risk, even though it was rather more common in people with high, rather than low, genetic risk.
Being a man was not a predictor of high genetic risk, and nor was having the disease in both hands.
From other work, we know that these factors – early-onset, family history, and knuckle pads – are characteristic of people with high diathesis.
Dolmans, G.H., de Bock, G.H., and Werker, P.M. (2012). Dupuytren Diathesis and Genetic Risk. The Journal of Hand Surgery 37, 2106–2111.
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