Ehlers-Danlos syndrome (EDS) is a rare genetic disorder that affects connective tissues, including skin, joints, ligaments, and blood vessel walls. There are numerous types of EDS, some of which are dangerous. However, the fundamental problem is that the body struggles to produce collagen, greatly weakening the connective tissue. It is possible to diagnose this condition by paying attention to certain symptoms. However, medical consultation and genetic tests may be required to identify the type.
Steps
Part 1 of 3: Identifying the Most Common Symptoms
Step 1. Notice if the joints are excessively flexible
The six main forms of this syndrome share the most obvious symptoms. One of them is that patients have excessively flexible joints, i.e. characterized by joint hypermobility. This symptom can manifest itself in a variety of ways, including joint "laxity" and the ability to extend joints beyond normal, and be accompanied by pain and tendency to injury.
- A sign of joint hypermobility is being able to extend the limbs beyond the normal limit. Some define them as "double-jointed", or twice as complex.
- Can you bend your fingers back over 90 degrees? Are you able to bend your elbows or knees backwards? These attitudes indicate joint laxity.
- In addition to being flexible, the joints may be unstable and prone to sprains. People with EDS can also suffer from chronic joint pain or develop osteoarthritis problems early.
Step 2. Pay attention to the elasticity of the skin
Those suffering from this syndrome also have a particular skin, with a velvety texture. Weakened connective tissues allow it to stretch more than normal. It is also very elastic and quickly comes back into place if deformed. Be aware that some EDS patients have hypermobile joints, but not these skin symptoms.
- Do you have extraordinarily soft, thin, supple or malleable skin? These features could indicate a number of health problems, including EDS.
- Try this test: Grab a small patch of skin on the back of your hand between your fingers and gently pull upwards. Typically, in people who experience cutaneous symptoms of EDS, it immediately returns to its place.
Step 3. Pay attention to skin fragility with a tendency to abrasions
Another sign related to EDS is that the skin is very fragile and prone to tearing. Bruising or even wounds can occur that take longer to heal. Patients with this syndrome can also develop abnormal scars over time.
- Do bruises form at the slightest bump? Because the connective tissue is weak, EDS patients are more prone to bruising, ruptured blood vessels, or prolonged bleeding following trauma. In these cases, it would be necessary to undergo a prothrombin time test to measure blood clotting times.
- Sometimes, the skin can be so fragile that it tears or breaks with minimal effort, but it can also take a long time to heal. For example, sutures applied to close a wound can tear, leaving a large scar.
- Many people with EDS have noticeable scars that look similar to "parchment" or "cigarette paper". They are long and thin and form where the skin breaks.
Part 2 of 3: Knowing the Types of the Syndrome
Step 1. Be aware of the signs that characterize hypermobility
The "hypermobile" type is the least severe form of EDS, but it can still have important repercussions, especially on the muscles and bones. The major feature of this subtype is joint hypermobility. However, it may include additional symptoms beyond those described so far.
- Aside from joint laxity, many patients who reenter the hypermobile form suffer from frequent shoulder or patella dislocations with little or no trauma and a fair amount of pain. They can also develop diseases such as osteoarthritis.
- Chronic pain is also one of the main signs indicating hypermobility. It can be serious ("physically and psychologically disabling") and the cause cannot always be justified. Doctors aren't sure, but it could result from muscle spasms or arthritis.
Step 2. Pay attention to the signs that characterize the "classic" subtype
Usually, the "classic" form of EDS is manifested by the most frequent symptoms affecting the skin and joints, namely skin fragility and excessive joint laxity. However, there are other symptoms associated with this subtype that are taken into consideration when trying to reach a diagnosis.
- Patients who fall into the classic form often have localized scars at the bony prominences, including the knees, elbows, forehead and chin. The scars can also be accompanied by hardened hematomas which, not reabsorbed, have undergone a process of calcification. Some people also develop "spheroids" on the forearms or shins. These are small cysts of adipose tissue that form under the skin and move under the pressure of the fingertips.
- Patients who fall into this subtype may also present with muscle hypotonia, fatigue and muscle cramps. In some cases, they suffer from hiatal hernia or even anal prolapse.
Step 3. Consider vascular complications
The vascular subtype is the most dangerous, because it affects organs and can promote internal bleeding or even lead to death. More than 80% of patients with this type experience a complication after the age of 40.
- People suffering from this form of EDS have well-defined physical characteristics, including soft and translucent skin, most noticeable on the chest. They may also have short stature, fine hair, large eyes, a thin nose, and lobed ears.
- Other signs of the vascular subtype are clubfoot, joint laxity limited to the fingers and toes, premature skin aging in the hands and feet, and varicose veins.
- The most severe symptoms relate to internal injuries. Bruising can occur very easily and there is a risk of a sudden rupture or collapse of the arteries. It is the leading cause of death for people with this form of EDS.
Step 4. Look for signs of scoliosis
Another form of EDS is the kyphoscoliotic subtype. The main feature is the lateral arching of the spine (scoliosis) which can occur at birth, along with other important symptoms.
- As previously suggested, see if the spine has a lateral curvature. This sign manifests itself from birth or within the first year of life and is progressive, i.e. it worsens over time. Often, patients with this subtype are unable to make it to adulthood on their own.
- People suffering from kyphoscoliosis also have considerable joint laxity and muscle hypotonia from birth. This state can impair the child's motor skills.
- Another sign relates to eye health. The kyphoscoliotic subtype is characterized by fragility of the ocular sclera.
Step 5. Pay attention to hip dislocation
The main sign of the arthroclasic subtype is bilateral dislocation of the hips from birth. In addition to skin elasticity, bruising and tissue fragility, this symptom is present in all patients with this form of EDS.
Arthroclastic-type EDS is mainly characterized by frequent dislocations and dislocations of the hip joints. However, it can also include muscle hypotonia and scoliosis
Step 6. Pay attention to the skin
The last and least frequent form of EDS is the dermatosparassic subtype, which takes its name from the skin symptoms that characterize it. Those who fall into this type have more fragile skin and more severe bruises than patients suffering from other forms of EDS, but otherwise they are characterized by other distinctive elements.
- Notice how the skin looks. Generally, it is flaccid and fluffy, but less elastic. In many patients it is redundant and sagging, especially around the face.
- The dermatosparassic subtype can involve large hernias. However, the skin heals normally and the severity of the scars is not comparable to that of other subtypes.
Part 3 of 3: Confirm the Diagnosis
Step 1. See your doctor
If you think you have EDS or that someone in your family has it, report your concerns to your doctor. Your primary care physician may be able to see you, but will likely recommend a genetic disease specialist who will surely ask you a series of questions about your medical history and medical conditions that have affected your family, carry out a thorough examination and prescribe tests. some blood.
- Make an appointment. Before you visit, think about what symptoms you are experiencing or have experienced.
- He will probably ask you if the joints are overly flexible, if the skin is rather elastic or if it heals badly. It may also ask you if you are taking any medications.
Step 2. Evaluate any familiarity
Since EDS is a genetic disease, it is transmitted in the same bloodline. This means that a patient is more prone to genetic mutations if a close relative also has the same mutations. Think carefully and be prepared to answer questions about your family history.
- Has there been a case of EDS among your relatives? Or did someone in your family have the same symptoms as you?
- Do you know if any relative died suddenly from a rupture of a blood vessel or the collapse of an organ? Remember that these are the most serious risks of the vascular subtype and could indicate an undiagnosed case.
- The doctor will try to diagnose the subtype, identifying the one that best matches the patient's symptoms.
Step 3. Undergo genetic testing
Usually, specialists in this field are able to make a diagnosis based on skin and joint health and family history assessment. However, they can also subject the patient to genetic tests to confirm their suspicions or verify the subtype. DNA testing can pinpoint the problem by showing the genes involved in the mutation.
- Genetic tests can be performed to confirm whether it is the vascular, kyphoscoliotic, arthroclase, dermatosparassic and, sometimes, even classic subtype.
- To undergo these tests, you should consult a clinical geneticist or genetic counselor. After that you will need to provide a sample of blood, saliva or skin that will be analyzed in the laboratory.
- Genetic tests are not 100% accurate. Some people recommend doing them to confirm a diagnosis, not to rule it out.
