Nicknamed “chewing-gum diseases”, Ehlers-Danlos syndrome is a group of hereditary pathologies still little known to the medical profession and the general public. Caroline Michot, geneticist at the Parisian Necker hospital, explains to us how these conditions manifest and are treated.
Why doctor: Sia, Lena Dunham… In recent years, a few celebrities have said they have Ehlers-Danlos syndrome. In France, it was Sanaa, a young finalist from The Voice Kids, and Lucie Bernardoni, a former Star Academy candidate, who recently highlighted the difficulties associated with this “invisible” disease. But what is it?
Caroline Michot: Ehlers-Danlos syndromes (EDS) are a group of hereditary diseases described by a French doctor and a Danish practitioner. In total, there are 14 types of Ehlers-Danlos, with different course, complications and management. On the other hand, these pathologies share a common clinical triad. They are characterized by joint hyperlaxity (i.e. joints that have more amplitude than the norm), skin hyperelasticity (i.e. skin that is more stretchable than the norm) and looseness or fragility of the connective tissues (i.e. – say the “framework” on which our cells rest, including collagen fibers).
How many people suffer from Ehlers-Danlos syndrome in France?
According to the scientific literature, at least one person in 5,000 is affected by Ehlers-Danlos syndrome of the hypermobile type, the most common type of pathology. Problem: we do not know if this disease is under or over-diagnosed, because its diagnosis is currently based solely on a clinical examination. As for the other types of Ehlers-Danlos, they are rarer and affect one person in 10,000 or less.
Ehlers-Danlos syndrome: “the disease is not always transmitted”
What are the causes of Ehlers-Danlos syndromes?
To date, the genetic and molecular basis of the hypermobile type Ehlers-Danlos syndrome has not been identified. On the other hand, one or more genes, at the origin of the 13 other types of Ehlers-Danlos, are now known. As a reminder, the disease is not always transmitted. Clearly, for EDS of dominant transmission, if one of our parents is a carrier of the mutated gene, we have a risk in two of suffering from it. But in some cases, we are the first in our family to have the syndrome because of a DNA copying error (i.e. an accidental mutation).
What are the consequences of Ehlers-Danlos syndromes?
Ehlers-Danlos syndromes are manifested by multi-organ complications, orthopedic problems, pain, sprains, dislocations or even scoliosis. Other organs are also affected, in different ways and intensities, depending on the type of Ehlers-Danlos. In some patients, fragility of the abdominal (hernia), pelvic (prolapse) or vascular wall (dilation of the arteries with risk of dissection) may occur.
“Ehlers-Danlos syndromes can be suspected by a treating physician”
How are Ehlers-Danlos syndromes diagnosed?
Ehlers-Danlos syndromes can be suspected by a treating physician, when confronted with a patient who suffers from chronic pain several times and who presents with joint hyperlaxity. In general, diagnosis of the condition is primarily based on clinical examination. Clearly, the health professional will analyze the joint flexibility, posture or even the texture of the patient’s skin. He may also ask him to carry out skeletal x-rays, a cardiac ultrasound and biological tests, in particular muscular. Genetic testing is offered to confirm the diagnosis, except for the hypermobile type.
In case of Ehlers-Danlos syndromes, which health professionals should be consulted?
The rare disease reference and competence centers are not able to receive all patients with chronic pain. Before being referred to a university hospital for an opinion in a rare disease center, the patient can be referred by his general practitioner to PRM doctors (physical medicine – functional rehabilitation which allows orthopedic complications to be treated), an orthopedist, a doctor from the sports, a rheumatologist or a pain doctor. Depending on the Ehlers-Danlos type, the patient will also be referred to a dermatologist, cardiologist, gastroenterologist, urologist or gynecologist. Geneticists come into play for molecular confirmation and genetic counseling.
Is it possible to cure Ehlers-Danlos syndrome?
For now, there is no treatment to cure Ehlers-Danlos syndrome. Management is symptomatic. One of the priorities is to help patients maintain good muscle tone. If this is not the case, they are less and less muscular, and the joints are more and more unstable. It is a harmful vicious circle. Whatever the cost, patients must therefore move as regularly as possible.
In order to better manage the disease on a daily basis, patients can have orthotics, compression garments and other material aids. Pain assessment centers or units are also valuable resources to best assist in the management of chronic pain. In addition to medicinal methods, other techniques are offered, such as sophrology or self-hypnosis. These techniques help to manage the pain and reduce the anxiety caused by these chronic pains.
