Ehlers-Danlos Syndrome

What is Ehlers-Danlos syndrome?

Ehlers-Danlos syndrome is a clinical condition that groups together a group of rare hereditary pathologies affecting the connective tissue. These alterations are due to modifications of collagen molecules. Six types are differentiated according to the symptomatic particularities of the molecular defect in question: classic, hypermobile, vascular, kyphoscoliotic, arthrochalasia and dermatosparaxis. In short, all persons affected by this pathology have excessive elasticity.

It is a group of rare hereditary pathologies affecting the connective tissue.

Prognosis of the disease

The prognosis varies depending on the type that affects the patient.

Symptoms of Ehlers-Danlos syndrome

The main symptoms of Ehlers-Danlos syndrome include:

  • Joint hypermobility
  • Hyperlaxity of the dermis
  • Diffuse tissue fragility
  • Slow wound healing

Affected individuals tend to be often suffer from subluxations and dislocations, have soft and hyperextensible skin, gastrointestinal disorders (gastroesophageal reflux, gastritis) and chronic pain with physical activity (fatigue, sleep disorders, osteoporosis).

Diagnosis of Ehlers-Danlos syndrome

Diagnosis is based primarily on the patient’s clinical and family history. Genetic testing can also be used to identify the existence of mutations in certain genes. Finally, pregnant women who are known to have a previous family history can undergo prenatal diagnosis.

What are the causes of Ehlers-Danlos syndrome?

The main causes of Ehlers-Danlos syndrome are genetic and consist of low or defective production of collagen and other connective tissue components.

See also  Vaginismus

Can it be prevented?

Ehlers-Danlos syndrome cannot be prevented as the causes are genetic.

Treatments for Ehlers-Danlos syndrome

There is no decisive treatment. The only therapy is only symptomatic and involves anti-inflammatory drugs, analgesics and physiotherapy.

Which specialist should be consulted?

In the case of Ehlers-Danlos syndrome, it is advisable to contact an expert in dermatology.