Ehlers Danlos Syndrome

Ehlers-Danlos Syndrome (EDS)

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Ehlers-Danlos Syndrome (EDS)

Ehlers-Danlos syndrome is a hereditary connective tissue disease. It is estimated that approximately 1 in 5000 people are affected by the connective tissue disease Ehlers-Danlos in Norway. The characteristic symptoms of this disorder are hypermobility (abnormally flexible and movable joints), hyperflexible skin (skin that can extend beyond the usual range) and abnormal scar tissue formation. The disorder is often also called a hypermobility syndrome (HSE). The disorder was named after the two doctors Edvard Ehler and Henri-Alexandre Danlos.

 

We also point out that there are a number of different types of this connective tissue disorder - depending on which gene or gene formations are affected. They are classified into 6 main categories - but it is believed that there are over 10 different variants of the disease. What they all have in common is that they all have a dysfunction in the production and maintenance of collagen (the main ingredient in, among other things, tendons and ligaments) - which can lead to serious complications.

 

Affected? Join the Facebook group «Ehlers-Danlos Syndrome - Norway: Research and New Findings»For the latest updates on research and media writing about this disorder. Here, members can also get help and support - at all times of the day - through the exchange of their own experiences and advice.

 

Symptoms: How to recognize Ehlers-Danlos Syndrome?

The symptoms of EDS will vary depending on the type of disorder you have. You can see a list of the 6 most common categories within EDS below. What is common to all the variants is that EDS is due to a lack of, dysfunctional structure and / or damaged collagen - therefore it is collagen-containing structures that are affected, including skin, muscles and connective tissue.

 

Cause: Why do you get Ehlers-Danlos Syndrome (EDS)?

The reason why you get this connective tissue disease are genetic factors. That is, it is caused by hereditary genetic innate mutations. The type of Ehlers-Danlos syndrome you get depends on which gene formations are mutated.

 

Variants: What are the different types of Ehlers-Danlos Syndrome?

EDS is divided into 6 main categories. They are classified according to which genes and gene types are mutated. We note that many of the different types of connective tissue disease have overlapping symptoms and clinical signs.

 

Type 1 & 2 (the classic type): This variant often has many of the same symptoms and signs as the hypermobility group (type 3), but with more skin involvement and symptoms. It can sometimes be difficult to distinguish between the two groups. Due to mutation in the genes COL5A1, COL5A2, COL1A1. Affects about 1 in 20000 people.

 

Type 3 (hypermobility variant): One of the most well-known variants of Ehlers-Danlos syndrome where the symptoms of hypermobility are among the most prominent - and where the skin symptoms are a minor part of the disease. Patients with type 3 Ehlers-Danlos syndrome have a significantly higher incidence of joint dislocations (eg when the shoulder falls out of joint) - both with or without trauma. This is due to reduced stability in the tendons and ligaments of the joints; those who are responsible for providing support in vulnerable positions and situations.

 

Because getting joints out of position is so common in this type of EDS, it is also more common with a higher incidence of pain and that wear and tear changes in joints occur earlier than usual (which means that young people can get conditions of joint wear Osteoarthritis - which would normally only be seen in older people). Common places that can be affected by osteoarthritis are the hips, shoulders and lower back, as well as the neck (upper or lower part). The joints are therefore worn faster because there is a lack of stability in nearby tendons and ligaments. Type 3 EDS is overlappingly called hypermobility syndrome (HSE). Type 3 is caused by a mutation in the TNXB gene and according to epidemiological studies affects approximately 1 in 10000-15000 people.

 

Type 4 (vascular Ehlers-Danlos syndrome): One of the rarer and more deadly variants of EDS that involves weaknesses in arteries and veins - which in turn carries a higher risk of serious - potentially fatal - complications such as rupture (tearing) of blood vessels and organs. The majority of those affected are only diagnosed after their death.

 

Characteristic of this variant is that people affected are petty in body shape and often have very thin, almost translucent skin, where one can see the veins clearly in areas such as the chest, abdomen and other parts of the body. People with this type of EDS also get bruises from next to nothing and bruises can also occur without physical trauma.






The severity of the adjacent type 4 EDS depends on the gene mutations. Studies have shown that about 25 percent of those diagnosed with this type of EDS develop significant health complications by the age of 20 - and by the age of 40, it is suggested that more than 80 percent will have undergone life-threatening complications. This type affects approximately 1 in 200.000 people.

 

Type 6 (kyphosis scoliosis): This is an extremely rare variant of Ehlers-Danlos. Only 60 reported case studies have been documented. The kyphosis scoliosis variant of EDS is characterized by a progressive development of the sciatic state of scoliosis, as well as bruises in the white of the eyes (sclera) and severe muscle weakness. This is due to gene mutation in PLOD1.

 

Types 7A and 7B (arthrocalasia): This type of EDS was previously determined by very mobile joints and dislocations (subluxations) of both hips at birth - but the diagnostic criteria have since been changed. This form is extremely rare and only 30 reported cases have been reported. It is considered to be significantly more severe than type 3 (the hypermobility variant).

 

Serious complications: Can Ehlers-Danlos be dangerous or deadly?

Yes, Ehlers-Danlos can be both dangerous and deadly. It is especially type 4 EDS that is considered to be the fatal of the variants - this is because it affects the vascular system with weakness in the artery and vein walls, which in turn can lead to tears in the aorta (main artery) and other bleeding. Other variants that do not affect the vascular system may have a completely normal average life expectancy. Other complications can be joints out of position and early development of osteoarthritis.





 

Diagnosis: How is the Ehlers-Danlos diagnosis made?

The diagnosis Ehlers-Danlos is discovered by taking a history / medical history, clinical examination and is determined through genetic testing and a skin biopsy test. Common misdiagnosis can be chronic fatigue syndrome, ME and hypochondriasis.

 

Treatment: How is Ehlers-Danlos treated?

There is no cure for EDS. The treatment that is given will only be symptom-relieving, function-building and focus on building around more appropriate function for the affected person. Because they with EDS often have a good deal of pain, they often seek physical treatment of muscles, tendons and joints. Some common treatments used may be:

  • Acupuncture: To provide symptom relief against muscle pain and myofascial restrictions
  • Physiotherapy: For both training, rehabilitation and physical therapy
  • Diet: Proper diet can counteract inflammation and nourish skin and muscle repair
  • Massage and muscular work: Muscle and joint pain is a significant problem in those affected by EDS
  • Customized joint mobilization: Joint movement is important and customized treatment can relieve joint pain
  • Hot water pool: Pool training is ideal for those with EDS

 

Surgical procedure: Operation of Ehlers-Danlos

Due to the disease's link to unstable joints and joint pain, this group has a significantly higher chance of being affected by dislocations and which has to be operated occasionally. Eg. shoulder instability. Surgery on those affected by this connective tissue disease requires completely different preparations and post-operative considerations due to longer recovery time.

 





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