Ehlers-Danlos syndrome

Overview – Ehlers-Danlos syndrome (EDS) is a group of relatively rare genetic disorders of connective tissue. Connective tissue provides strength and elasticity to the underlying structures in the body. Skin, joints, and blood vessels are primarily affected.

In most types of Ehlers-Danlos syndrome, there are inherited alterations in genes affecting the synthesis and processing of different forms of collagen, which are important in the structure of many tissues and organs.

Some forms of EDS are inherited in an autosomal dominant pattern. In an autosomal dominant disease, if you get the abnormal gene from only one parent, you can get the disease. Often, one of the parents may also have the disease.

In some rare forms of EDS, the gene is inherited in an autosomal recessive pattern. An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.

 

Symptoms

  • Overly flexible joints leading to joint pain and dislocations.
  • Translucent stretchy skin, poor wound healing, easy bruising, and unusual scars.

 

Complications

  • Joint dislocations
  • Valvular heart disease
  • Aortic dilatation
  • Rupture of major blood vessels
  • Retinal detachment
  • Glaucoma

 

Diagnosis

  • Family history of Ehlers-Danlos syndrome, extremely loose joints, stretchy and fragile skin are often enough to make the diagnosis.
  • Diagnosis is confirmed by genetic testing in some cases to help rule out other problems.

 

Lifestyle management

  • Follow a healthy diet and exercise program as recommended by your doctor.
  • It is important to prevent injuries if you have EDS. Talk to your doctor about measures to safeguard yourself, type of sports to choose.
  • Keep all your appointments with your doctor. Your doctor will check on you periodically to see the progression and complications of the disease. You will be recommended regular cardiovascular evaluation, eye exams.
  • If you are planning a pregnancy talk to your doctor about genetic counseling to help understand the inheritance pattern, and risks it poses for your children; and you during pregnancy.

 

Medical management

  • Treatment of EDS is aimed at managing the symptoms and preventing complications.
  • Over the counter pain medications is the mainstay of treatment.
  • Physical therapy is recommended with particular attention to low-impact, low-resistance exercise for strengthening of core and extremity muscles and joint stability.
  • Surgery may be required in some cases to repair the ruptured blood vessels or organs in people with EDS.

Pin It on Pinterest