Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome (EDS) is an umbrella term that encompasses a group of genetic conditions that cause defects in collagen, resulting in hypermobility of the patient’s joints and abnormalities in connective tissue such as the skin, bones, blood vessels and organs. There are several types of Ehlers-Danlos syndrome. This section mainly focuses on hypermobile Ehlers-Danlos syndrome.

 

Types

Hypermobile Ehlers-Danlos syndrome represents most cases of EDS in clinical practice and exams. It is the most common and least severe type of Ehlers-Danlos syndrome. The key feature is joint hypermobility, but patients also have soft and stretchy skin. The gene for hypermobile EDS has not been identified and there is no single mode of inheritance.

Classical Ehlers-Danlos syndrome features remarkably stretchy skin that feels smooth and velvety to touch. They also have severe joint hypermobility, joint pain and abnormal wound healing. They often develop lumps over pressure points, such as the elbows. They are prone to hernias, prolapses, mitral regurgitation and aortic root dilatation. Inheritance is autosomal dominant.

Vascular Ehlers-Danlos syndrome is the most dangerous form of EDS, where the blood vessels are particularly fragile as a result of defective collagen. Patients have characterise thin, translucent skin that you can almost see through. The skin, internal organs and arteries are fragile and prone to rupturing. Patients are monitored for vascular abnormalities and told to seek urgent medical attention for sudden unexplained pain or bleeding. Inheritance is autosomal dominant.

Kyphoscoliotic Ehlers-Danlos syndrome is characterised initially by poor tone (hypotonia) as a neonate and infant, followed by kyphoscoliosis as they grow. There is significant joint hypermobility. Patients tend to be tall and slim. There is a risk of rupture in the medium sized arteries. Inheritance is autosomal dominant.

TOM TIP: It is important to be more familiar with hypermobile Ehlers-Danlos syndrome, but also know some key features of the other types so you can spot them in your exams and practice. Hypermobile EDS is relatively common whereas the other types are rare.

 

Presentation

The most common presenting complaint for hypermobile EDS is joint pain and hypermobility, however abnormalities in collagen make it a multi-system disorder leading to symptoms across multiple areas of the body:

  • Hypermobility in joints
  • Joint pain after exercise or inactivity
  • Joint dislocations, for example the shoulders or hips
  • Soft stretchy skin
  • Easy bruising
  • Poor healing of wounds
  • Bleeding
  • Headaches
  • Autonomic dysfunction causing dizziness and syncope
  • Gastro-oesophageal reflux
  • Abdominal pain
  • Irritable bowel syndrome
  • Menorrhagia and dysmenorrhea
  • Premature rupture of membranes in pregnancy
  • Urinary incontinence
  • Pelvic organ prolapse
  • Temporomandibular joint dysfunction
  • Myopia and other

 

Beighton Score for Hypermobility

The Beighton score is used to assess the extent of hypermobility and support the diagnosis of hypermobility syndrome. One point is scored for each side of the body, with a maximum score of 9:

  • Palms flat on floor with straight legs (score 1)
  • Elbows hyperextend
  • Knees hyperextend
  • Thumb can bend to touch the forearm
  • Little finger hyperextends past 90 degrees

TOM TIP: It is worth remember the Beighton score. It is a quick way to objectively assess patients with multiple joint pain that may be caused by hypermobility.

 

Management

Diagnosis is made using the Beighton score. It is important to exclude Marfan syndrome, which also features hypermobility, by examining for features such as high arch palate, arachnodactyly and arm span.

There is no cure for Ehlers-Danlos syndrome. Management focuses on maintaining health joints, monitoring for complications and minimising symptoms. Management involves:

  • Follow up with relevant specialties depending on the associated complications
  • Physiotherapy to strengthen and stabilise the joints
  • Occupational therapy to maximise function
  • Maintaining good posture in the joints
  • Moderating the intensity of activity to minimise flares
  • Psychology may be required to a help manage the chronic condition and pain

Hypermobility in the joints leads to additional wear and tear on the joint. This means patients with hypermobility often develop generalised osteoarthritis at an earlier age.

 

Postural Orthostatic Tachycardia Syndrome

Postural orthostatic tachycardia syndrome (POTS) can occur with hypermobile Ehlers-Danlos syndrome, and is a result of autonomic dysfunction. This causes inappropriate tachycardia on sitting or standing up, resulting in distressing symptoms such as presyncope, syncope, headaches, disorientation, nausea and tremor.

 

Last updated January 2020
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