“I have a Ehlers Danlos syndrome.”
Ehlers-Danlos syndromes ( yes there is different types) are the collective name for a group of genetic diseases attacked by connective tissue, such as cartilage and bones. The prevalence is estimated at about 1 in 5,000 to 30,000 depending on the type. As you will see in this article, they involve a wide range of symptoms, causes, treatments and prognoses in a patient, making it difficult to make the diagnosis.
So let’s break it down…
What are Ehlers-Danlos syndromes?
The Ehlers-Danlos Syndromes aka EDS as we have already said, are a group of genetic diseases that target the connective tissue in the body. That two doctors Edvard Ehlers and Henri-Alexandre Danlos, who discovered and talked for the first time about that disease in the 20th century.
The classification of “Ehler-Danlos Syndromes” has evolved considerably over the years. Today, account (official) 13 types of different syndromes that are related to their symptoms, their causes or their treatments. They often overlap in indexes, while it would be impossible to explain everything. Hypermobile, Classical, Vascular, Cyphoscoliosis, Arthrochalasia, Dermatosparaxis, Fractate Corneal Syndrome, Classical, Spondylodysplastic, Musculo-Contractual, Myopathic, Periodontal and Cardiovascular.
This classification, however recent (it dates from 2017) is quite critical. As a patient I quite agree, it should be revised. The difference between different types is unclear (even for doctors) and the possibility of moving towards the other or the other is very going through the similarity of symptoms. By dint of crossing patients, my overall impression is “types” corresponding to clinical forms even pathology. For example, the vascular type is not exclusive to aneurysms and arterial dissections and can be observed in patients with types of EDS.
What are the most common symptoms of EDS?
The symptoms are variable and differ in their expression between different patients even in members of the same family, including twins!
It is a crisis-prone disease which means that the symptoms are as variable (in terms of their shape as their intensity) during the life of the same patient. So people with EDS may have different symptoms, but most of them have at least one of the following symptoms:
- Musculoskeletal Symptoms: This primarily relates to joint dysfunction that makes them unstable and more susceptible to hyperextensions, subluxations, dislocations, or sprains. These symptoms can therefore greatly affect the lifestyle of the patient both in terms of mobility and pain.
- Skin Symptoms: The skin also has many symptoms, such as easy bruising, atrophic scars, redundant skin folds, especially on the eyelids and fragile, thin, translucent skin.
- Cardiovascular Symptoms: Since blood vessels are connective tissue, there are several cardiovascular symptoms such as heart murmur, dysautonomia, postural orthostatic tachycardia, ascending aortic aneurysm, valvular heart disease, or thoracic outlet syndrome, among others.
- Added to this are diffuse pain, resistant to pain, with intense attacks on a permanent background, proprioceptive disorders, vasomotor disorders especially extremities (resembling Raynaud’s disease) hypersensoriality (auditory, olfactory, cutaneous, photophobia ) digestive disorders …
- Finally, the fatigue is often intense, permanent, main responsible for disability situations that is often neglected by doctors.
What are the causes of Ehlers-Danlos syndromes?
The thing that Ehlers-Danlos Syndromes all have in common is that they are caused by genetic mutations, although they are different depending on the different syndromes.
The genetic mutations that cause EDS affect the production, processing or structure of collagen or proteins that interact with collagen. Since all types of connective tissue depend on the strength and structure of collagen, problems with collagen or proteins that interact with collagen cause dysfunctions in bones, organs, skin and blood vessels.
The genetic origin of all Ehlers-Danlos syndromes makes them all hereditary, which is one of the reasons why these diseases are relatively rare. There are different inheritance schemes:
- most in an autosomal dominant pattern (which means you can get the modified gene if only one of your parents has it)
- a minority in an autosomal recessive pattern (which means you can get the modified gene only if both of your parents have it)
Treatment and prognosis
First, you should know that there is no known cure for any of the Ehlers-Danlos syndromes. Care is therefore focused on symptom relief and patient support. They combine painkillers, mobility aids, such as wheelchairs and other orthopedic instruments, physiotherapy and close monitoring of the cardiovascular system with drugs and more specific procedures to treat particular symptoms.
The treatments do not vary according to the type (which also suggests that we are in fact in the presence of a single disease that expresses in a different way), but according to the symptoms and their intensities of the moment.
One of the most important things to know is that the disease imposes major lifestyle changes aimed at preventing injury or damage to the joints. These lifestyle changes often involve not participating in activities that result in excessive blockage or extension of the joints, violent sports, heavy loads …
The prognosis is very different according to the patients because of the randomness of the manifestation of the symptoms. In general, patients with ADS have a normal life expectancy provided that appropriate measures are taken to avoid aggravation of symptoms. However, in syndromes with blood or heart disease, the prognosis is a little more pessimistic and depends on how the particular symptoms are treated and how the patient responds to the treatment.
For further information:
Professor Hamonet specialist of the disease in France has published in July 2018 a book entitled “Ehlers danlos la maladie oubliée par la medicine” meaning Ehlers-Danlos the disease forgotten by medicine. The book is only in english but Its website is translated in english and a mine of information for patients, their families, but also patients in search of resources.
I also recommend this site. The articles are a little complex, but it is very rich and above all very well documented.