Ehlers-Danlos Syndrome (EDS) – symptoms and treatment of the disease

Contents

What is Ehlers-Danlos Syndrome?
Rebellious collagen
Is Ehlers-Danlos syndrome hereditary?
At the genetic clinic
Treatment without treatment

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Proven content

In a television interview with Dorota Wellman, Tatiana Okupnik confessed that she suffers from Ehlers-Danlos disease (EDS). Although he has been suffering from his ailments – mainly related to bones, joints and skin – since childhood, it was only recently that the disease was accurately diagnosed. What is Ehlers-Danlos disease? What are the symptoms? Is it hereditary?

As Okupnik confessed in the program “Dzień dobry TVN” from an early age, she often suffered injuries and fractures, but the doctors could not explain it. – I assumed that I just have weaker bones – she told Dorota Wellamn
She was also more supple and flexible than her peers. – I went to a ballet school and I had no problem with splits or other things – she explained
Excessive laxity of the joints, delicate skin and tendency to fractures are the most common symptoms of EDS. Okupnik heard the correct diagnosis after 42 years of age
More information can be found on the Onet homepage.

What is Ehlers-Danlos Syndrome?

The disease hiding under this name belongs to the genetic diseases of connective tissue, caused by point mutations in genes encoding collagen structures.

The incidence of the syndrome is estimated at 1 in 5 live births. Genetic disorders that can cause the disease equally affect men and women.

Tatiana Okupnik is terminally ill. “The bones began to break with power”

Ehlers-Danlos syndrome does not have a uniform clinical form, both in terms of causes and symptoms.

So far, 12 different types of Ehlers-Danlos syndrome have been classified, and the classification depends on the type of genetic change that has occurred in the patient.

Generally, however, the syndrome mainly affects the skin and joints. The most common symptoms include:

soft, delicate, velvety, often transparent skin,
skin prone to bruising, bruising, swelling,
different degree of skin stretch,
poor and very slow wound healing,
fleshy changes on the skin in areas of constant pressure,
excessive mobility of joints,
loose, unstable joints with a tendency to frequent dislocations,
joint pain, often continuous,
frequent arthritis (observed already at school age, worsening in adulthood),
chronic skeletal muscle pain,

fragility of large blood vessels
cracks and damage to internal organs, e.g. the uterus during pregnancy,
scoliosis,
clubfoot,
weak muscle tone,
mitral valve prolapse,
vision problems (retinal detachment).

Rebellious collagen

EDS is caused by a disturbance in the structure and function of collagen in the connective tissue.

Collagen belongs to the structural proteins of the extracellular matrix of connective tissue. Its main function is to ensure proper physical strength, mechanical resistance and elasticity of tissues. When there is little collagen, the tissue slackens. Collagen-free skin loses its elasticity and strength, becomes stretchy, susceptible to mechanical injuries and injuries. Difficulty in wound healing is also a direct consequence of the decreased amount of this protein. During the wound healing process, the structural proteins of the extracellular matrix constitute specific scaffolds for new cells that rebuild damaged tissue. Similarly, mechanical weakness affects blood vessels that do not contain enough collagen. If this protein is missing from the cells that make up the articular capsules, the joints become unnaturally flexible.

The disease does not give symptoms for a long time. The first is pain in the bones

Collagen is also a structural protein of skeletal muscle attachments. Weakened trailers cause patients to have unnaturally flaccid muscles. The weakening of the skeletal muscles leads to the weakening of the spinal fascia, i.e. all structures that allow you to maintain the correct posture. In patients with EDS, the spine does not have strong support, hence frequent defects in its structure, e.g. scoliosis, lordosis.

The consequence of joint instability may be repeated arthritis and pain. The latter increase with age and exercise.

Is Ehlers-Danlos syndrome hereditary?

The cause of the Ehlers-Danlos syndrome is the occurrence of point mutations in one of the genes responsible for coding or subsequent processing of collagen. Most mutations are inherited in an autosomal dominant fashion. Some forms of the disease are inherited autosomal recessively. Still others are associated with the X chromosome.

In the case of autosomal dominant inheritance, it is enough to change one copy of the gene for the mutated phenotype, i.e. the syndrome, to manifest itself. This means that the carriers of such a mutation always get sick. In the case of autosomal dominant mutations, the chances of passing the lesion to the child are 50%, which means a 50% risk of having a sick child. Autosomal recessive mutations require the presence of two mutated genes for phenotypic manifestation. In the case of this inheritance, the affected parent will always pass the defective gene to the child, but it does not mean that the disease has occurred.

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When there is a change in the X chromosome, the inheritance is related to the sex of the affected parent and the sex of the child. If the mutant gene is carried by the mother, there is a 50 percent risk of passing the mutation on to all children, regardless of gender. In the case of the carrier father – each of his daughters will inherit the mutation and all sons will be healthy.

The diagnosis of EDS is based on genetic studies of the genes in the collagen synthesis and processing pathway. The test is performed by molecular analysis of DNA isolated directly from the patient’s peripheral blood. Genetic research is currently the final one.

At the genetic clinic

Patients suspected of EDS go to a genetic clinic for consultation. After conducting physical and genetic tests, a diagnosis is made. If EDS is diagnosed and its type is determined, the patient or his parents should be informed about the nature of the genetic changes. This is extremely important because this knowledge allows you to consciously make decisions about having children or not to have children.

Women with EDS who are expecting a baby require special attention. After all, pregnant women with EDS can rupture the uterus, which is a direct threat to pregnancy. But other complications can also arise, such as a flared plate of the pelvic bones and strains in the hip and knee joints. If a sick woman is planning a pregnancy, she should discuss it with a cardiologist and undergo full imaging diagnostics of the main blood vessels. Most women with EDS are offered to terminate their pregnancy by caesarean section because the arteries may even rupture during natural delivery.

Treatment without treatment

As with most genetic diseases, there are no effective treatments. What can be offered to patients is to alleviate existing symptoms.

Research into genetic therapies is currently underway, but results are yet to be seen. But the Polish experience of using such treatment in children with osteogenesis imperfecta is very promising.

The most troublesome for patients with EDS is the constant pain in the joints caused by degenerative changes and articular cartilage defects. Therefore, patients are given preparations containing hyaluronic acid in order to eliminate and stop the process of cartilage degradation, in order to slow down the progress of changes in the joints. Patients must also regularly take vitamin C, the balanced level of which is necessary for the proper synthesis of collagen. However, there is no evidence that collagen taken in capsules is of benefit to patients. It is worth taking this into account, because such supplementation is expensive, and there is still no evidence of its effects.

The course of the disease may vary from patient to patient. It depends, among other things, on the form of the disease with which a particular person is struggling. The current symptoms of the disease, their complications and the implemented symptomatic treatment also affect the patient’s condition. One should also remember about numerous diseases that often coexist with Ehlers-Danlos syndrome and may have a significant impact on the health and comfort of life of patients.

Text: Anna Jarosz