Ehlers-Danlos syndrome (EDS) is a group of genetic conditions involving defects in collagen, causing hypermobility in the joints and abnormalities in the connective tissue of the skin, bones, blood vessels and organs.
TOM TIP: Marfan syndrome is a critical differential diagnosis for hypermobility and needs to be excluded. Key features of Marfan syndrome are a high arch palate, arachnodactyly (long fingers) and increased arm span to body height ratio.
Types
Hypermobile Ehlers-Danlos syndrome is the most common and least severe type of Ehlers-Danlos syndrome (although it still causes significant disability and psychosocial issues). The key features are joint hypermobility and soft and stretchy skin. A single gene for hypermobile EDS has not been identified. It appears to be inherited in an autosomal dominant pattern.
Classical Ehlers-Danlos syndrome features remarkably stretchy skin that feels smooth and velvety. There is severe joint hypermobility, joint pain and abnormal wound healing. Lumps often develop over pressure points, such as the elbows. Patients are prone to hernias, prolapses, mitral regurgitation and aortic root dilatation. Inheritance is autosomal dominant.
Vascular Ehlers-Danlos syndrome is the most severe and dangerous form of EDS, where the blood vessels are particularly fragile and prone to rupture. Patients have characteristic thin, translucent skin. Other features include gastrointestinal perforation and spontaneous pneumothorax. 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 muscle tone (hypotonia) as a neonate and infant, followed by kyphoscoliosis as they grow. There is significant joint hypermobility. Joint dislocation is common. Inheritance is autosomal recessive.
TOM TIP: It is worth being familiar with relatively common hypermobile Ehlers-Danlos syndrome and remembering some key features of the other types to spot them in your exams. Remember the extremely stretchy skin and severe joint hypermobility associated with classic EDS, and the thin translucent skin and blood vessel rupture associated with vascular EDS.
Presentation
The most common presenting feature of hypermobile EDS is joint pain and hypermobility. However, it is a multi-system disorder, and symptoms commonly occur across multiple areas of the body:
- Joint dislocations (e.g., shoulders or hips)
- Soft and stretchy skin
- Stretch marks (striae)
- Easy bruising
- Poor wound healing
- Bleeding
- Chronic pain (can be widespread)
- Chronic fatigue
- Headaches
- Autonomic dysfunction (e.g., POTS)
- 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
Postural orthostatic tachycardia syndrome (POTS) can occur with hypermobile Ehlers-Danlos syndrome, resulting from autonomic dysfunction. Significant tachycardia occurs on sitting or standing, and symptoms include presyncope (lightheadedness), syncope (loss of consciousness), headaches, disorientation, nausea and tremor.
Beighton Score
The Beighton score is used to assess for hypermobility and support the diagnosis. One point is scored for each side of the body, with a maximum score of 9, if the patient can:
- Place their palms flat on the floor with their straight legs (scores only 1)
- Hyperextend their elbows
- Hyperextend their knees
- Bend their thumb to touch their forearm
- Hyperextend their little finger past 90 degrees
TOM TIP: It is worth learning and remembering to use the Beighton score to assess patients for hypermobility.
Management
Hypermobile Ehler-Danlos syndrome is a clinical diagnosis assisted by the Beighton score. Genetic testing is helpful in the other subtypes of EDS.
There is no cure for EDS. Management focuses on maintaining healthy joints, managing symptoms, supporting daily activities and monitoring for complications. This will involve:
- Follow up with relevant specialists depending on the associated complications
- Physiotherapy to strengthen and stabilise the joints and maintain good posture
- Occupational therapy to maximise function
- Moderating activity to minimise flares
- Psychology may be required to support wellbeing
Hypermobility in the joints leads to additional wear and tear on the joint, resulting in premature osteoarthritis.
Last updated September 2023