Introduction
Even today, Ehlers-Danlos syndrome is still most often ignored or neglected in favour of other diagnoses that are better known to doctors. However, its description dates back to 1900 (Ehlers) and 1908 (Danlos) by two dermatologists who focused (Danlos in particular) on excessive stretching of the skin and hypermobility of the joints. These last two traits remained attached to this genetic connective tissue disease (collagen damage), with a false reputation of benignity. The reality is quite different.
Admittedly, there are minor forms, probably the most numerous, especially in the male sex, which hardly hinder functional and situational autonomy. On the other hand, however, there are forms with numerous and sometimes very severe handicaps which cause exclusion from social life and great physical and mental suffering. The causes of these difficulties are not only the state of the skin and the hyperlaxity of the ligaments, but unknown manifestations of almost all clinicians who are too inclined to attribute them to a psychopathological origin, which increases the distress of these patients who feel misunderstood and rejected by the medical profession. Lack of knowledge of the syndrome is also at the origin of erroneous diagnoses with therapeutic consequences that can be detrimental in this field, one of the characteristics of which is fragility. These misunderstandings are facilitated by the absence of biological tests (blood, histological or genetic) that can confirm the diagnosis, if not by their negativity, which today confuses both doctors and their patients!
One element contributes to making the experience of the syndrome intolerable for these patients: the assertion that there is no treatment, " that there is nothing that can be done". In fact, there is one, or rather, treatments for Ehlers-Danlos syndrome that essentially involve the use of orthotics. It is therefore important for orthotists to be informed of this pathology, which they may even have to screen for certain very evocative orthopaedic particularities, particularly of the foot.
One point completes the characterization of this syndrome while considerably complicating the therapy and the social and especially professional rehabilitation. This is the highly variable nature of the symptomatology. It is willingly marked by real and very disabling crises against a continuous background of symptoms.
The updated Ehlers-Danlos Syndrome Clinic
In addition to the three functionally dominant symptoms (pain, fatigue, proprioceptive disorders) the other manifestations are represented by skin alterations (velvety, thin, fragile with numerous stretch marks, sometimes from childhood, scarring poorly, hyperesthesic, sometimes stretchy), haemorrhagic syndrome (numerous bruises, gingivorrhages, heavy periods, epistaxis), neurovegetative (unstable blood pressure, vasomotor disorders) and thermoregulatory disorders (chills, sweating), digestive disorders (reflux, constipation), respiratory disorders (blockages, dyspnoea), ENT, ophthalmological and oral manifestations, urological, gynaecological-obstetrical disorders and neuropsychological alterations mainly affecting working memory and attention. Sleep alterations complete this heterogeneous clinical picture: " no two cases of Ehlers-Danlos syndrome are identical " (Yolaine Raffray).
Pathophysiological basis and objectives of orthotic treatments
The genetic defect in the manufacture of collagen characteristic of Ehlers-Danlos syndrome, which can be transmitted in an autosomal dominant mode (one child out of two), results in an increased fragility of the connective tissue and a modification of its mechanical qualities, in particular its elasticity, which is diminished. This means that these tissues do not react adequately to the mechanical stresses they are subjected to and do not allow the sensors they support to react and send good information about what is happening in the body. It is therefore a disorder of the body schema coupled with a proprioceptive disorder affecting both the organs of relational life (walking, grasping, vision, hearing) and those of vegetative life (digestive tract, bladder, bronchi and lungs, organs of balance).
Orthotics in Ehlers-Danlos Syndrome
They represent the most effective part of the therapy that can be applied today to the disabling symptoms of the syndrome.
Four types of orthoses are particularly effective and can be considered the "must-have" in the treatment of Ehlers-Danlos syndrome: foot orthoses, lumbar belts, compression garments, and hand resting orthoses.
1 - Foot orthotics
These are the simplest to make but they must be perfectly adapted to the morphology of the " Ehlers-Danlos foot " which is very characteristic by the association of a flat anterior foot and a retracted arch (aspect of " false hollow foot ").
The flat forefoot is corrected, according to Lelièvre's method, by a sufficiently high medial retro capital support (6 to 7 mm in an adult), forming a 2 cm wide convex hemicupola. A retrocapital bar should not be used as it would further destabilize the foot. A sub-cuboidal support completes the orthosis.
We evaluated the effects of orthotics in a prospective study of 100 cases of Ehlers-Danlos Syndrome fitted with orthotics using subjects as their own control.
The effect is immediate, as soon as you try it on. In all of our cases, we observe a correction of the hesitant and unstable gait with a tendency to deviate to the sides and hit objects (especially doorways: "door sign") or people, the progress of the step is improved and we find the three beats taligrade, plantigrade and digitigrade with the wearing of soles. The rearfoot is no longer unstable.
This reappropriation of sensations is often formulated as " I know where I put my feet ". Another patient expresses it more explicitly: " For the first time in my life, I was able to stand up and feel the ground under my feet correctly, I must admit that it was a very strange experience, especially since I always thought I knew what it was. It's also the first time that my feet don't hurt when I walk or stand. »
All patients reported that the ankle instability had disappeared or regressed. The same is true of falls or the beginnings of falls, when they existed, which no longer exist or have become much rarer. This improvement in walking stability is still evidenced by the sign of the door. " I can walk through doors better " is an almost constant remark among patients with an orthopaedic device. They can walk without checking what their feet are doing because they can better perceive ground contact or irregularities without having to constantly adjust their position. The walking perimeter is increased with a reduction in the arduousness in all our patients.
The effect on pain is also constant. It concerns plantar pains that always disappear or decrease sharply. Pain in the ankles, knees, pelvis (hips or pelvic region), dorsolumbar spine and also in the cervicoscapular region, diminishes in all our patients. They link this improvement to a better feeling of the erect position of the trunk and a better stability of the whole body, which allows them, for example, to turn their head more easily. Muscle cramps, mainly in the calves, often nocturnal, when they exist, disappear or decrease with the wearing of plantar orthoses.
Tolerance: There is no abandonment or aggravation. These soles are more effective with shoes with a good upper. Wearing high heels is not an absolute contraindication but can be badly tolerated. We have sometimes made a sole specifically for riding boots which is encouraged in this syndrome. The addiction is such that all our patients have told us that they cannot do without their soles.
2 - The lumbar belt
Our choice was the 21 cm lumbar sp ine belt (except for the large sizes), which we had the opportunity to successfully test the first prototypes on people with Ehlers-Danlos syndrome.
Hind whales should be well arched and pressed against the iliac crest, either directly against the skin or with a light protection. It does not, of course, diminish muscular capacity and can be worn all day long. In addition to its analgesic effect, its proprioceptive role on the lumbopelvic region helps to improve the quality of balance when sitting or standing and when walking.
With the exception of thermal discomfort and a few rare cases of skin tolerance, this unanimously accepted belt is always followed by a positive effect on pain and proprioception.
3 - Hand resting orthotics
These are resting orthoses and not immobilization for a fracture. It is therefore necessary to avoid the double-sided, plexidur, post-moulded carcasses that we sometimes see in some of our patients. Too heavy, they are unusable. The aim here is to stabilize the wrist and finger joints in the analgesic position, the one where the stress is minimal. They are also proprioceptive orthoses which aim at restoring the sensations of the key position of the hand, the " functional position ", from which the grasping is organized. They must be made of light materials, directly applied to the patient through a jersey, they can be well padded palm orthoses in thermoformable material or dorso-palm orthoses in .... with zipper. The latter are well appreciated by patients, despite their rather unattractive appearance, probably due to their lightness, as they are so sensitive to the stresses caused by excessive and, here, unnecessary weight.
They extend, also to limit the prognosis, at the top at the limit of the upper 1/3 and middle 1/3 of the forearm, and at the bottom at the proximal interphalangeal joints. The wrist is extended at 30°, the metacarpophalangeal joints bent at 90°, the thumb is in line with the radius.
They are indicated each time, that during a grasping-manipulation activity (writing for example), pain and difficulty of control appear, for a few minutes or more. Often, after this time, the activity can be resumed. They can also be used at night, making it more comfortable to use your hands when you wake up. During seizures and even outside of these periods, some of our patients use them almost permanently.
4 - Restraints and compression garments
The use of support stockings or anti-phlebitis stockings sometimes brings an appreciable improvement in pain and walking, but the most important effect on proprioceptive disorders of the limbs and trunk is obtained with special clothing, specially designed for people with Ehlers-Danlos syndrome, derived from clothing for the healing of severe burns, whose effectiveness has been validated by a multicentre study (Créteil, Lyon, Rennes).
This clothing consists of trousers, ankle straps, a vest, gauntlets or mittens. Others (wrists only, elbow, insulated knee) may be indicated. The effects can be spectacular but are, in some cases, burdened by difficulties of skin and thermal tolerance. This means that the measurements must be taken by experienced people, adaptations are possible, the choice of clothing is made, at best, in two stages: pantys, gauntlets in the first stage, ankles and waistcoat in the second stage. The indication of the waistcoat becomes a priority when dislocations or subluxations of the shoulder(s) exist. The proprioceptive effect of these restraints is sometimes spectacular, restoring sensations to the lower limbs that had lost them, as in the case of this adolescent girl who had lost the sensitivity and voluntary control of her lower limbs and had been isolated and psychiatrically isolated and who was able to get up and walk with a walker immediately after the compression garments were put on.
These four types of orthoses must be prescribed simultaneously to combine their proprioceptive and analgesic effects.
Other orthotics
Depending on the functional state, other orthoses may be prescribed: the lumbax dorso belt, which is often very useful in cases of major postural difficulties of the trunk, for the same purpose, " back straightening " devices used for clavicle fractures, cervical collars, flexible wrist, elbow and thigh orthoses used in sports, biflex bands, in certain lower limb pain or after a " pseudo-sprain".
In the field of large orthotic devices, the use of moulded shells in children but also in some adults may be indicated, as well as rigid articulated orthoses, including the dynamic Chignon orthosis. Scoliosis is very frequent but, more often than not, not very progressive. Otherwise, beware of false images due to vertebral hypermobility, specific orthotic treatment is required.
Technical aids
They play an important role in the rehabilitation of people with Ehlers-Danlos syndrome. Class 2 anti-bedsore cushions, mattresses and pillows with memory foam greatly improve the painful syndrome and are part of the systematic prescriptions with a consistently positive result.
Aids for writing, computer use, home automation and driving, facilitated by increasingly frequent recognition by the Maison départementale du handicap, help to reduce the loss of autonomy of these people for whom variable or even " intermittent" disability situations too often remain invisible and are poorly understood by their families and doctors.
Canes, despite the painful shoulders, can effectively help control verticality. The manual wheelchair is almost impossible to move independently but can be of great help in times of " seizures". The electric wheelchair can be fully justified.
Conclusion
Today, orthotics are an important, unavoidable part of the treatment of Ehlers-Danlos syndrome in its hypermobile form. It is to these orthoses that the progress made in recent years in the treatment of this disabling condition can be attributed. A very important practical difficulty arises: the financial access to these treatments. Full reimbursement of these orthotic benefits is not always obtained and a large number of patients cannot, for this reason, treat themselves. This has to be taken into account in the current efforts for orphan genetic diseases, which is sadly the case for Ehlers-Danlos syndrome. A change is needed.