Ehlers-Danlos Syndrome: What Is It?
Ehlers-Danlos syndrome covers a wide range of hereditary connective tissue disorders. It represents a rare entity worldwide, and was first clinically described in 1892.
This pathology is a group of conditions characterized by increased joint elasticity and flexibility. In addition, most patients have hyperelasticity of the skin and their small blood vessels rupture easily. Studies estimate a prevalence of 1 in 5000 to 1 in 10000 people worldwide.
Currently, about 13 types of Ehlers-Danlos syndrome have been described and more than 19 genes have been implicated in the development of this condition. Diagnosis is based on detailed clinical examination and the use of genetic and biochemical tests.
Causes of Ehlers-Danlos syndrome
Connective tissue is a complex network of collagen and other types of proteins that provide both elasticity and strength to the organs and tissues of the human body. In this sense, Ehlers-Danlos syndrome is the result of modifications in the collagen molecules due to alterations in the genes involved in their synthesis.
Collagen defects or deficiency leads to various conditions in the joints, bones, and blood vessels. Research affirms that Ehlers-Danlos syndrome tends to be inherited in an autosomal dominant pattern, with the classic type being the most common, with a 35% prevalence among the others.
There are several mutations associated with the development of this pathology. However, the detection of the genetic defect is difficult. The genes COL5A1, COL5A2, COL1A2, COL1A1, COL3A1, ADAMTS2, PLOD1, and TNXB are some of those involved.
The clinical manifestations of this condition depend on the variant of the syndrome and the severity. In general, people usually have mild symptoms, while others have severe, life-threatening conditions.
The main signs associated with Ehlers-Danlos syndrome are as follows:
- Elastic and hypermobile joints.
- Pain and crunching in the joints.
- Frequent joint dislocations.
- Elastic, soft, and velvety skin.
- Slow healing of wounds.
- Brittle skin with a tendency to bruise
Similarly, some people may have chronic bone and muscle pain, as well as visual problems. In rare cases, back pain, decreased muscle tone, flat feet, and gum disease may be evident.
You may want to read the following article: Causes of Joint Pain: Seven Possible Reasons
The complications of Ehlers-Danlos syndrome are varied and are associated with the structural deficit of the connective tissue. They’re usually long-term, especially in patients who aren’t diagnosed and treated early.
Complications related to Ehlers-Danlos syndrome include the following:
- Early-onset arthritis
- Dislocation of joints
- Ruptured aortic aneurysm
- Early-onset of labor during pregnancy
- Mitral valve prolapse
- Muscle atrophy
How is Ehlers-Danlos syndrome diagnosed?
In most cases, Ehlers-Danlos syndrome is identified based on detailed clinical evaluation. The physician will look for warning signs that point to this pathology during the physical examination, such as hypermobile joints and elastic skin.
Likewise, family history is a fundamental pillar of suspicion. In addition, the variants called vascular, arthrochalasia, and hypermobile can be confirmed through genetic analysis.
Other complementary methods that can be performed include the following:
- Skin biopsy for collagen typing
- Lysyl hydroxylase enzyme activity
- Echocardiography for cardiovascular complications
Read also: What are Gene Mutations?
Unfortunately, there’s no definitive cure for Ehlers-Danlos syndrome. Treatment is aimed at alleviating the symptoms in each person, as well as preventing future complications. Active rest and avoiding overextension of the joints during acute episodes is recommended.
Pain is managed by short-term administration of non-steroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen and naproxen. In addition, muscle relaxants are helpful, as well as steroid infiltration for bursitis or associated tendonitis.
Physical therapy, on the other hand, provides great relief in the long-term management of joint conditions. Research recommends the use of magnesium and multivitamins in the prevention of muscle cramps and control of blood vessel fragility.
How to live with Ehlers-Danlos syndrome?
People with Ehlers-Danlos syndrome have mild symptoms that can be alleviated with small lifestyle changes. In this sense, it’s key that you get to know all the details about the disease, as well as having the support of family and friends.
Similarly, it’s necessary to maintain an adequate exercise habit of mild to moderate intensity. Some of the most recommended sports activities are yoga, walking, swimming and cycling. In addition, people should avoid contact sports and weight lifting, as they increase the risk of injury.
Doctors advise wearing shoes with good support in order to prevent dislocations or sprains. On the other hand, jaw protection is essential, avoiding chewing gum, ice and very crunchy food. In addition, adequate rest should be sought, using body pillows and foam mattresses.
In case of any strange symptoms or the intensification of known conditions, medical attention should be sought. Health professionals are the only ones qualified to provide treatment and proper guidance for recovery.It might interest you...