Ehlers-Danlos Syndrome

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Ehlers-Danlos Syndrome (EDS) is not a single condition but rather a group of 13 or 14 inherited connective tissue disorders. These disorders are caused by genetic defects that affect the body's ability to produce or process collagen and other proteins that form connective tissues. Connective tissues provide support and structure to the skin, joints, blood vessels, and many other organs and tissues throughout the body.

The hallmark features of EDS are:

  • Joint hypermobility: Joints that are unusually flexible and can move beyond the normal range of motion. This can lead to frequent dislocations, subluxations (partial dislocations), sprains, and joint pain. People may be described as "double-jointed".
  • Skin hyperextensibility: Skin that can be stretched more than normal and often feels soft or velvety. However, it may also be fragile.
  • Tissue fragility: Connective tissues are weaker than they should be, leading to skin that bruises easily, heals poorly, and can result in abnormal scarring (often widened or thin "cigarette paper" scars). In some types, this fragility can extend to blood vessels and internal organs, leading to serious complications.

Other common symptoms can include:

  • Chronic musculoskeletal pain (in bones, joints, and muscles)
  • Fatigue
  • Clumsiness or poor coordination
  • Muscle weakness
  • Headaches
  • Anxiety
  • Gastrointestinal problems
  • Dizziness and increased heart rate upon standing (signs of dysautonomia)

There are several different types of Ehlers-Danlos Syndrome, each with its own genetic cause (except for hypermobile EDS, where the genetic cause is currently unknown) and a unique set of clinical features. Some of the main types include:

  • Hypermobile EDS (hEDS): The most common type, characterised primarily by generalised joint hypermobility, joint instability, and chronic pain. Skin involvement is usually milder.
  • Classical EDS (cEDS): Characterised by significant skin hyperextensibility, atrophic scarring, and generalised joint hypermobility.
  • Vascular EDS (vEDS): A more severe form that affects blood vessels and internal organs, making them fragile and prone to rupture. It is often associated with distinctive facial features, thin and translucent skin, and easy bruising.
  • Kyphoscoliotic EDS (kEDS): Characterised by severe, progressive scoliosis (curvature of the spine), muscle weakness (hypotonia) at birth, and joint hypermobility.
  • Arthrochalasia EDS (aEDS): Features severe generalised joint hypermobility with congenital hip dislocations.
  • Dermatosparaxis EDS (dEDS): Characterised by extreme skin fragility, leading to significant bruising and sagging, and redundant skin.
  • Classical-like EDS (clEDS): Similar to classical EDS but without the characteristic atrophic scarring.
  • Cardiac-Valvular EDS (cvEDS): Primarily affects the heart valves, along with skin and joint involvement.
  • Brittle Cornea Syndrome (BCS): Mainly affects the eyes, with thin corneas that can rupture easily.
  • Spondylodysplastic EDS (spEDS): Characterised by short stature, muscle weakness, and bowing of the limbs.
  • Musculocontractural EDS (mcEDS): Features congenital joint contractures (permanently bent joints), skin hyperextensibility, and other distinctive features.
  • Myopathic EDS (mEDS): Characterised by muscle weakness, which can be progressive, and joint hypermobility.
  • Periodontal EDS (pEDS): Primarily affects the gums and teeth, leading to severe and early-onset gum disease and tooth loss.

The severity of EDS can vary greatly between individuals and even within the same type. While there is no cure for Ehlers-Danlos Syndrome, treatment focuses on managing symptoms, preventing complications, and improving quality of life through physical therapy, pain management, and supportive measures. Diagnosis often involves a physical examination, medical history, and genetic testing (though a genetic test is not yet available for hEDS).

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