Every day there are new medical and scientific advances. This in turn means more research and more information on the various pathologies of the human body. However, there are certain diseases that are not well studied because they affect such a small portion of the population. Ehlers-Danlos Syndrome (EDS) is one of those rare diseases.
Different countries and regions of the world have their own scales for rare or unusual diseases, but they still don’t vary too much. For example, in Europe, a rare disease is one that affects 1 in 2000 people (0.05% of the population).
In today’s article, we’re going to talk about one of these rare diseases: Ehlers-Danlos Syndrome (EDS). EDS is an incurable disease that affects the connective tissue of the body. With today’s post we want to draw attention to this little-known syndrome and the people who live with it.
The Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, also known as EDS, is a group of genetic and hereditary disorders in connective tissue. These disorders have a direct impact on the collagen and lead to problems in the skin, joints and blood vessel walls. It is classified as a rare disease in the UK and other parts of the world.
There are different types of EDS, but all of them cause the skin to be unusually stretchy and vulnerable, and the joints to be extremely flexible and elastic.
How many types of Ehlers-Danlos are there?
There are up to thirteen different types of EDS. The most common (within the limited population suffering from EDS) are classic, hypermobile, vascular, and cardiac-valvular forms. Here is a full list of the types that scientists have identified:
- Classic EDS (cEDS)
- Classic-like EDS: EDS that is similar to the classic (clEDS)
- Cardio-valvular EDS (cvEDS)
- Vascular EDS (vEDS)
- Hypermobile EDS
- Arthrochalasia EDS (aEDS)
- Dermatosparaxis EDS (dEDS)
- Kyphoscoliotic EDS (kEDS)
- Brittle Corneal Syndrome (BCS)
- Spondylodysplastic EDS (spEDS)
- Musculocontractural EDS (mcEDS)
- Myopathic EDS (mEDS)
- Periodontal EDS (pEDS)
Symptoms of Ehlers-Danlos Syndrome
People who suffer from EDS experience changes and pain that become more and more constant over time. Each type can be recognized by different symptoms, but there are also some similarities.
It is important to note that any one of these symptoms alone is not a definitive sign of EDS. Likewise, if one of these symptoms is absent, it does not mean that you do not have the disease.
- The most common symptom is back pain. More specifically, the patient may feel that their back is strained and likely they will have muscle cramps. Some describe the pain as if they were carrying cement on their backs.
- Another common symptom is ligament hypermobility. People with Ehlers-Danlos Syndrome are incredibly flexible because their bands are like the chords on a detuned guitar.
- Very stretchy and extremely vulnerable skin: A seemingly harmless thing, like bumping into a table, can cause severe bruising; what would be a small scratch on a person without EDS could develop into a serious wound in an EDS patient.
- Flat feet are another possible trait of an EDS patient. They often have cramps in their feet and walk in a certain way to make up for it. One way to test this is to look at the soles of your shoes. Usually one side is much more worn out than the other.
- The worst symptom of Ehlers-Danlos syndrome is loose joints. Cartilage loss over time means the bones are moving too much, which can lead to serious dislocations.
Furthermore, people with EDS also need to watch out for signs of early onset arthritis. Vision problems are also a common problem. In addition, another interesting feature of this disease is very soft, almost velvety skin.
Ehlers-Danlos Syndrome: Diagnosis and Treatment
Most often, people with EDS have to go through a long and intense process to get a diagnosis. The time to diagnosis is usually three years. Before being diagnosed with Ehlers-Danlos Syndrome, patients often hear that they have other illnesses, such as fibromyalgia.
What EDS has in common with fibromyalgia, chronic fatigue syndrome and lupus is that all of these diseases fall under the specialty of rheumatology. In addition, they also share some of the same symptoms, so it is not surprising that they are often confused.
Another thing they have in common is that there is no cure for these diseases. If your doctor diagnoses you with any of these diseases, you will be treated to relieve symptoms. Sessions with a physical therapist can help stop the progression of joint mobility.
Depending on the type of EDS your doctor thinks possible, you will need to undergo a series of tests. For example, if you had cardiac valvular EDS, a cardiologist would do a full evaluation to rule out Marfan’s syndrome, which is very common in people with this type of EDS. Marfan’s syndrome can be extremely dangerous if left untreated.
If you suffer from EDS yourself or know someone who has or could have this syndrome, the Deutsche Ehlers-Danlos Initiative or the Federal Association of Ehlers-Danlos Self-Help can provide more information and provide important resources.