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Ehlers-Danlos syndrome is a group of rare genetic diseases characterized by joint hypermobility and delicate, over-stretchy skin. A patient with EDS has impaired collagen synthesis and / or the structure of connective tissue. Patients with Ehlers-Danlos syndrome often complain of joint pain and numerous sprains and dislocations, but this is not the only risk that comes with this condition. EDS affects many other organs and systems in the body. What should I know about EDS?

Ehlers-Danlos syndrome , hardly noticed by doctors, is a group of rare genetic diseases. In a sick person, the formation and / or structure of collagen, the building block of connective tissue, is disturbed, so that often the first characteristic symptom is hypermobile joints. Excessive laxity of the joints leads to dislocations and dislocations (e.g. kneecaps or shoulders), and in some types of the syndrome the patient's skin is very stretchy and it is not uncommon to see bruises from the slightest contusions.

There arefourteen types of EDS , of which thirteen genetic mutations leading to the disease have been found. For the hypermobile type, no corresponding gene has yet been discovered. Ehlers-Danlos syndrome is inherited as autosomal recessive or dominant, but sometimes there is a de-novo mutation, which means that it occurs spontaneously and the parents of the sick child did not pass the defective gene to him.

Ehlers-Danlos syndrome is more than just dislocations and joint pain. Connective tissue is found throughout the body, so many organs and systems in the body of a person with Ehlers-Danlos syndrome may not function properly if it is not working properly. In some cases, especially in the vascular type, it is directly life-threatening and shortens its life expectancy.

The oldest mentions of this disease date back to ancient times and it was already described by Hippocrates, but to this day it is impossible to estimate the number of patients due to the low awareness of the disease and a very varied course. As a result, people affected by the disease often cannot get a diagnosis for years. They are sometimes referred to a psychiatrist or circus because of their phenomenal skills in stretching the skin and flexing the limbs ("rubber man").

EDS is considered to occur from 1: 2,500-1: 10,000people.

Ehlers-Danlos syndrome - symptoms

Ehlers-Danlos syndrome has basic symptoms and additional symptoms that depend on the type. This does not mean, however, that everyone with a given type will experience the same symptoms or comorbidities.

Basic symptoms are divided into joint and skin symptoms.

Ehlers-Danlos syndrome - joint symptoms

  • hypermobility (based on the Beighton scale) and a very wide range of movements
  • joint laxity
  • frequent injuries
  • dislocations
  • dislocations and complications after them
  • degeneration (including knee degeneration, degeneration of the spine), even in young people

Ehlers-Danlos syndrome - skin symptoms

  • delicate, referred to as "silky", soft skin
  • excessively stretchy skin in some types
  • occurrence of atrophic scars
  • keloid formation
  • easy to bruise

Additional symptoms of Ehlers-Danlos syndrome

May include:

  • mitral heart valve regurgitation
  • brittleness of organs (blood vessels, intestines, bladder), which may lead to their rupture
  • vision problems (astigmatism) and variable pattern defect, difficulty in choosing glasses
  • scoliosis and / or kyphoscoliosis
  • varus in the feet and / or knees
  • many others

Ehlers-Danlos syndrome - comorbidities

Co-morbidities, as well as additional symptoms, vary depending on the type of syndrome and depend on the person. Patients with Ehlers-Danlos may have problems with:

  • immune system (e.g. MCAS, Mast Cell Activation Syndrome, asthma)
  • digestive system (e.g. food intolerances, irritable bowel syndrome)
  • circulatory system (e.g. aneurysms, vascular dissection)
  • urogenital system (e.g. difficulties in maintaining pregnancy, prolapse of the reproductive organs)
  • endocrine system (e.g. thyroid disease, endometriosis)
  • nervous system (e.g. Chiari's malformation, headaches of various origins, including migraines; anchoring of the spinal cord)
  • locomotor system (e.g. spine instability, arthrosis, osteoporosis)

People with EDS are also accompanied by pain, including muscle pain, chronic fatigue, and very often suffer from sleep disorders, anxiety and depression.

Ehlers-Danlos syndrome - types

Types of Ehlers-Danlos syndrome:

  • classic (cEDS)
  • like classic (clEDS)
  • cardiovascular (cvEDS)
  • vascular(vEDS)
  • hypermobile (hEDS)
  • artrochalasia (aEDS)
  • dermal (dEDS)
  • kyphoscoliotic (kEDS)
  • Brittle Corneal Syndrome (BCS)
  • spondylodysplastic (spEDS)
  • with muscle contractures (mcEDS)
  • myopathic (meds)
  • Periodontal (PEDS)
  • undefined (diagnosed in three unrelated families, in four people)

Ehlers-Danlos syndrome - diagnosis

The diagnosis of Ehlers-Danlos syndrome is based on genetic testing. In the case of the hypermobile type, the doctor makes a clinical diagnosis by confirming the symptoms and excluding other connective tissue disorders.

Ehlers-Danlos syndrome - treatment

Ehlers-Danlos syndrome is an incurable disease with an unpredictable course. The therapy consists in relieving symptoms, eliminating comorbidities and prophylaxis (e.g. an annual visit and ultrasound examination of the abdominal cavity by a gastroenterologist).

Follow-up visits to doctors of various speci alties can prevent a sudden deterioration of he alth and detect hidden diseases before they have irreversible effects. As chronic pain is an integral part of EDS, patients are advised to go to a pain clinic to improve their quality of life and be given appropriate pharmacotherapy. Also, enlisting the help of a physiotherapist will be of great help.

  • Mild joint hypermobility syndrome, i.e. joint laxity
  • Rheumatic diseases - causes, types, symptoms and treatment

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Category:

Genetic diseases