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Ehlers-Danlos syndrome - causes, symptoms, diagnosis, treatment

Ehlers-Danlos syndrome - causes, symptoms, diagnosis, treatment

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Abdominal pain

Ehlers-Danlos syndrome is a very complex connective tissue disease. It involves tendons, ligaments, cartilage, bone and skin. In some cases, also the blood. The syndrome is relatively rare and is classed as a genetically determined disease of connective tissue. A point mutation in the genes involved in the coding of collagen structures (the main connective tissue protein, which has a very high tensile strength and is responsible, among other things, for the elasticity of the skin) is responsible for the development of the disease.

Ehlers-Danlos syndrome affects both men and women of different ages. Unfortunately, it does not have a uniform clinical presentation either in terms of symptoms or causes. On this basis, 12 different types of this syndrome have been classified. It is based on the type of genetic change that is responsible for the development of the disease.

In most cases, the skin and joints of the patient are affected. The symptoms are variable. Sometimes they disappear in youth. Unfortunately, they may also only appear in adulthood. What symptoms are characteristic of Ehlers-Danlos syndrome ?

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Symptoms and course Ehlers - Danlos syndrome

Symptoms characteristic of Ehlers-Danlos syndrome

In Ehlers-Danlos syndrome, the following symptoms can be observed in patients:

  • severe fatigue
  • constant fatigue and sleepiness
  • pain in the joints, muscles and tendons, which does not disappear but is aggravated by so-called chronic pain
  • severe skin pain
  • headaches, migraines
  • stomach problems (severe pain, problems with eating and digesting)
  • pains in the breasts and, in men, in the genitals
  • problems sleeping, waking up during the night
  • night muscle spasms
  • very strong, even excessive mobility of the joints
  • difficulty in holding objects
  • clumsiness of movements (falling, stumbling)
  • constipation, constipation, flatulence, gastro-oesophageal reflux
  • valvular heart disease, heart rhythm disturbances
  • urinary incontinence, urinary problems, frequent urinary tract infections
  • chills alternating with excessive sweating - very dry skin, bloody petechiae, problems with wound healing, easy skin cuts
  • double vision, astigmatism
  • dizziness, tinnitus, possible fainting
  • breathing difficulties, cough, chest pain, emphysema, bronchitis, voice disorders
  • flexible nose
  • disorientation, concentration and other disorders


These symptoms are problematic for the patient over time, especially when they become more severe. The patient requires specialised care from a number of specialists.