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Genetic Conditions

Ehlers–Danlos syndrome

What is Ehlers-Danlos Syndrome?

Ehlers–Danlos syndrome (EDS) is a group of genetic disorders that affect the connective tissues in the body. The most common features of EDS include joint hypermobility, skin hyperextensibility, and fragile skin. EDS can also cause other more serious problems, such as problems with internal organs and blood vessels.

Causes of Ehlers-Danlos Syndrome

EDS is caused by a defect in the synthesis or structure of collagen or another protein in the extracellular matrix. The most common EDS, classical EDS (cEDS), is caused by a defect in the collagen type 6 gene (COL6A1 or COL6A2). EDS is typically inherited in an autosomal dominant manner, although autosomal recessive and X-linked forms also exist. EDS affects both sexes equally. The estimated prevalence of EDS is 1 in 5,000 to 1 in 20,000 people worldwide. EDS is diagnosed primarily based on clinical features. There is no cure for EDS, but treatments can improve symptoms and quality of life.

What are the specific symptoms of Ehlers-Danlos syndrome?

The symptoms of EDS can vary from mild to severe, and may include:

  • Joint hypermobility: This means that joints move beyond the normal range of motion. People with EDS may be able to extend their joints farther than usual or dislocate them easily.
  • Fragile skin: Skin may be unusually stretchy and fragile. It may bruise easily or tear with little trauma. People with EDS may also have thin or transparent skin.
  • Reduced wound healing: Wounds may take longer to heal and may not heal as well as expected. People with EDS are at risk for developing chronic wounds (wounds that do not heal).
  • Problems with blood clotting: Because of the fragility of the blood vessels, people with EDS may bleed excessively or have problems with blood clotting. They are at increased risk for bruising and nosebleeds.

EDS is a complex disorder, and not all people with EDS will experience all of these symptoms. The severity of symptoms can vary from person to person. EDS is generally diagnosed based on clinical signs and symptoms, supported by family history and genetic testing when possible.

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Diagnosis of Ehlers-Danlos Syndrome

Diagnosis is often based on symptoms and confirmed with genetic testing or skin biopsy. However, children may initially be misdiagnosed with hypochondriasis, depression, or chronic fatigue syndrome. A large number of signs and symptoms still remain to be identified and linked to Ehlers–Danlos Syndrome.

Treatment of Ehlers-Danlos Syndrome

Treatment for Ehlers-Danlos Syndrome is supportive in nature. Physical therapy and bracing may help strengthen muscles and support joints for children. Effective treatment of EDS requires a multidisciplinary approach that focuses on the management of individual symptoms. The first step is to identify the subtype of EDS, as this will help to determine the most appropriate course of treatment. For example, patients with the classical form of EDS may benefit from physical therapy and splinting, while those with the vascular form may require close monitoring by a cardiologist. In general, however, there are a few key treatment strategies that can be used to manage EDS symptoms. These include pain relief, skincare, and injury prevention. Pain relief may be achieved through the use of medication, massage, or heat/cold therapy. Skin care is important in preventing skin breakdown and ulceration. Injury prevention involves avoiding activities that put undue stress on the joints and muscles. With proper treatment, patients with EDS can lead relatively normal lives.

If you or someone you know has EDS, it is important to seek medical care from a doctor who is familiar with the disorder. There are many different types of EDS, and an accurate diagnosis is essential for proper treatment.

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