Ehlers-Danlos syndrome is a rare genetic disease that affects the production and functioning of collagen in the body. It can affect the joints, blood vessel walls and skin.
Symptoms of Ehlers-Danlos syndrome include loose joint movements, thin skin, difficulty healing and muscle weakness. It can lead to complications like ruptured arteries, joint dislocation or chronic pain.
Ehlers-Danlos syndrome can be treated by a pediatrician, orthopedic surgeon or rheumatologist, and usually involves a combination of medication and physiotherapy. Severe cases may also warrant surgical interventions.
Main symptoms
The main symptoms of Ehlers-Danlos syndrome are:
- Elastic, smooth and thin skin
- Difficulty healing
- Muscle weakness or chronic fatigue
- Difficulty walking or maintaining posture
- Lack of development of one or more teeth
- Fecal or urinary incontinence
With Ehlers-Danlos syndrome, joints tend to have looser movement, and are more limp and elastic. Patients with this condition may be able to bend their wrist or thumb all the way to the forearm.
Ehlers-Danlos syndrome symptoms usually begin in childhood, and should be assessed by a pediatrician once they emerge.
Confirming a diagnosis
An Ehlers-Danlos syndrome diagnosis starts with an assessment of the patient's symptoms, health history and motor development. The doctor may also perform a physical exam, and order imaging and/or lab tests.
The doctor will likely ask questions about the patient's family history, as this condition is hereditary.
What tests detect Ehlers-Danlos syndrome?
The main tests that your doctor may order to diagnose Ehlers-Danlos syndrome are:
- CT or MRI to evaluate joints, internal organs or cardiovascular system;
- Echocardiogram to evaluate the heart;
- Skin biopsy, to detect the presence of altered collagen fibers
The doctor may also order genetic testing, which will also help determine the type of Ehlers-Danlos syndrome that patient is presenting with.
Possible causes
Ehlers-Danlos syndrome is a hereditary genetic disease that occurs due to mutations in the genes that code for the various types of collagen or the enzymes that alter collagen.
Types of Ehlers-Danlos syndrome
The main types of Ehlers-Danlos syndrome are:
1. Classical Ehlers-Danlos syndrome (cEDS)
Classic Ehlers-Danlos syndrome is characterized by thin, elastic skin, scars that are indented, and joints with increased mobility.
This type of syndrome is caused by changes in genes like COL5A1 or COL5A2, which are important for the production of type 5 collagen.
2. Hypermobile Ehlers-Danlos syndrome (hEDS)
The genetic alteration that leads to Hypermobile Ehlers-Danlos syndrome has not yet been identified, however, it is associated with looser or flabby joints.
This can increase the risk for muscle or joint pain, dislocations and frequent sprains from joint instability.
3. Vascular Ehlers-Danlos syndrome (vEDS)
Vascular Ehlers-Danlos syndrome is caused by changes in the COL3A1 gene, which is responsible for the production of type 3 collagen.
This type of Ehlers-Danlos syndrome is associated with thinner, more transparent skin which is more prone to injuries.
With this condition, the arteries are also very fragile, and in some people the aorta can also be very weakened, which can be life-threatening.
The walls of the uterus and intestines are also very thin, and can easily rupture.
Treatment options
Treatment for Ehlers-Danlos syndrome is guided by a multidisciplinary team, which may include a pediatrician, orthopedic surgeon, rheumatologist, dermatologist and cardiologist.
Treatment for Ehlers-Danlos syndrome can involve:
1. Medications
The main medications prescribed to manage Ehlers-Danlos syndrome are:
- Analgesics, like acetaminophen, to relieve pain;
- Non-steroidal anti-inflammatory drugs, like ibuprofen or naproxen, also to manage pain;
- Antihypertensives, to reduce blood pressure.
Medication for Ehlers-Danlos syndrome should be prescribed by the doctor, and will vary depending on the patient's symptoms and type of syndrome diagnosed.
2. Physiotherapy
Physiotherapy for Ehlers-Danlos syndrome is aimed at strengthening the muscles and stabilizing joints. Physiotherapy exercises can help improve balance, posture and gait.
3. Braces
Patients with unstable joints may require supports or braces, as recommended by an orthopedic surgeon.
It is common for patients with EDS to use knee braces, ankle braces or wrist braces, or orthotics made for the shoulders, wrists, knees, hips or spine.
4. Occupational therapy
Occupational therapy is often recommended for children develop fine motor coordination, such as holding small objects, drawing or painting, for example.
5. Skin care
Skin care for Ehlers-Danlos syndrome should be guided by a dermatologist, as the skin tends to be more fragile and difficult to heal.
The doctor may advise patients to avoid using loofahs or bath brushes, and to use soaps with moisturizing properties or neutral liquid soap. Moisturizer should be applied to the body daily.
Larger wounds that appear should be treated by a dermatologist, with cleaning and wound care. Stitches may need to stay in for longer to ensure full healing.
6. Regular medical follow-up
Regular medical follow-up is very important for the treatment Ehlers-Danlos syndrome. The doctor should periodically assess the patient's general and cardiovascular health status.
The doctor may order routine cardiac exams, such as an echocardiogram or angiography to assess the integrity of the heart and blood vessels. Regular monitoring can help to prevent complications like an aortic rupture or mitral valve prolapse.
Regular check-ups with a dentist are also beneficial, as EDS may also lead to changes in the teeth or gums.
7. Surgery
In more serious cases that involve damaged joints or blood vessel or organ ruptures, surgical repair may be necessary.
8. Psychotherapy
Psychotherapy may be recommended to support the patient and family through the understanding and acceptance of Ehlers-Danlos syndrome.
Cognitive-behavioral therapy is a widely used tool to help the person develop coping mechanisms to help improve their quality of life.
Possible complications
The main complications of Ehlers-Danlos syndrome are:
- Osteoarthritis and arthritis diagnosed in childhood
- Joint dislocation
- Blood vessels or organ ruptures
- Mitral valve prolapse
- Pneumothorax
- Postural orthostatic tachycardia syndrome (POTS)
- Uterine, vaginal or rectal prolapse
Umbilical, inguinal, femoral, hiatal or incisional hernias may also develop.
During pregnancy, women may also experience complications such as uterine rupture, premature labor, vaginal and perineal lacerations during vaginal delivery or uterine or bladder prolapse.