Ehlers-Danlos syndrome constitutes a wide range of hereditary connective tissue disorders. It represents a rare entity worldwide, the first clinical description of which dates back to 1892.
This pathology brings together a set of conditions characterized by an increase in the elasticity and flexibility of the joints. In addition, most patients have hyperelasticity of the skin and easy rupture of small blood vessels. Education estimate a prevalence of 1 in 5,000 to 1 in 10,000 people worldwide.
Currently, About 13 types of Ehlers-Danlos syndrome have been described and more than 19 genes involved in the development of this condition. Diagnosis is based on a 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 changes in collagen molecules by alteration of the genes involved in its synthesis.
Collagen defects or deficiency cause various conditions in the joints, bones and blood vessels. Research states that Ehlers-Danlos syndrome tends to be inherited in an autosomal dominant pattern, with the classic type being the most common, with a prevalence of 35% among the others.
There are several mutations associated with the development of this pathology. However, detection of the genetic defect is difficult. COL5A1, COL5A2, COL1A2, COL1A1, COL3A1, ADAMTS2, PLOD1 and TNXB genes are some of those implicated.
The clinical manifestations of this entity vary according to the variant of the syndrome and the severity. Typically, people tend to have mild symptoms, while others have severe conditions with a high risk of death.
The main signs associated with Ehlers-Danlos syndrome are as follows:
- elastic joints and hypermobile.
- Pain and crunching in the joints.
- joint dislocations frequent.
- Elastic, soft and velvety skin.
- Slow healing of wounds.
- fragile skin with tendency to bruise.
Similarly, some people may have chronic bone and muscle pain, as well as vision problems. In rare cases it is possible to experience back pain, decreased muscle tone, flat feet and gum disease.
The complications of Ehlers-Danlos syndrome are very varied and are associated with the structural deficit of the connective tissue. In general, they tend to occur over the long term, especially in patients who are not diagnosed and treated in time.
Among the complications related to this disease are the following:
- Early onset arthritis.
- Joint dislocation.
- Ruptured aortic aneurysm.
- Early onset of labor during pregnancy.
- Mitral valve prolapse.
- Muscle atrophy.
How is Ehlers-Danlos syndrome diagnosed?
In most cases, the identification of Ehlers-Danlos syndrome is based on data obtained through a detailed clinical evaluation. He the doctor will look for warning signs that drive this pathology during the physical examination, such as in the case of hypermobile joints and stretchy skin.
Likewise, family history is a key pillar of suspicion. Also, the variants called vascular, arthrochalasia AND hypermobile can be confirmed through genetic analysis.
Other complementary methods that can be performed are as follows:
- Skin biopsy for collagen typing.
- Activity of the enzyme lysyl hydroxylase.
- Echocardiography for cardiovascular complications.
Unfortunately, There is no definitive cure for Ehlers-Danlos syndrome.. Treatment is geared towards relieving symptoms in each person, as well as avoiding future complications. Active rest and avoidance of joint overextension are recommended during acute episodes.
Pain is managed by short-term administration of nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen and naproxen. Furthermore, muscle relaxants are very useful, as are steroid infiltrations in case of associated bursitis or tendonitis.
On the other hand, Physiotherapy provides great relief in controlling joint conditions over the long term. Research recommends the use of magnesium and multivitamins in the prevention of muscle cramps and in the control of blood vessel fragility.
How to live with Ehlers-Danlos syndrome?
People with Ehlers-Danlos syndrome have mild symptoms that can be relieved with small lifestyle changes. In this sense it is essential to know all the details about the disease, as well as having the support of family and friends.
Likewise, an adequate habit of light to moderate intensity exercise should be maintained. Some of the most recommended sports activities are yoga, walking, swimming and cycling. Additionally, people should avoid contact sports and weight lifting, as they increase the risk of injury.
Doctors recommend wearing shoes with good support with the aim of preventing dislocations or sprains. On the other hand, the protection of the jaw is essential, avoiding chewing gum, ice and very crunchy foods. Also, adequate rest should be sought, using body pillows and foam mattresses.
Any unusual symptoms or intensification of known conditions should seek medical attention. Healthcare providers are the only ones trained to provide care and proper guidance for recovery.
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