Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders caused by abnormalities in collagen, collagen processing, or related connective-tissue proteins. They can affect the skin, tendons, ligaments, bones, blood vessels and organs. There are thirteen recognised types of EDS, most of which are rare.
Key Types
Hypermobile Ehlers-Danlos syndrome represents most cases of EDS in clinical practice and exams. It is the most common type of Ehlers-Danlos syndrome. The key feature is joint hypermobility. Patients also have soft and stretchy skin. There is no single known causative gene. It often has an autosomal dominant pattern of inheritance.
Classical Ehlers-Danlos syndrome features remarkably stretchy skin that feels smooth and velvety to touch. Patients have severe joint hypermobility, joint pain, easy bruising and abnormal wound healing. Fleshy lumps called molluscoid pseudotumours may develop over pressure points, such as the elbows. Other features include hernias, vaginal prolapse and rectal prolapse. Inheritance is autosomal dominant.
Vascular Ehlers-Danlos syndrome is the most serious form of EDS and notably features fragile blood vessels. It features thin, translucent skin that bruises easily. Blood vessels and internal organs (e.g., bowel or uterus) are prone to rupture. Patients are monitored for vascular abnormalities and must 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) in the neonatal and infant periods, followed by kyphoscoliosis as they grow. There is significant joint hypermobility and soft, stretchy skin. Another notable feature is ocular fragility, with weakness of the eye tissues. Inheritance is autosomal recessive.
TOM TIP: The type to be most familiar with is hypermobile Ehlers-Danlos syndrome, but it is also worth knowing some key features of the other types to spot them in exams. Hypermobile EDS is relatively common, whereas the other types are rare.
Hypermobile EDS Presentation
Hypermobile EDS typically presents with joint hypermobility and pain, particularly after exercise or inactivity.
However, it is a multi-system disorder and can present with a large number of features, including:
- Joint dislocations (e.g., shoulders or hips)
- Soft and mildly stretchy skin
- Easy bruising
- Headaches
- Autonomic dysfunction, causing dizziness and syncope
- Gastro-oesophageal reflux
- Abdominal pain
- Irritable bowel syndrome
- Heavy menstrual bleeding
- Urinary incontinence
- Pelvic organ prolapse
- Temporomandibular joint dysfunction
- Myopia and other eye-related issues
TOM TIP: In a patient with joint hypermobility, consider the differential diagnosis of Marfan syndrome. Examine for features such as a high-arched palate, arachnodactyly, and increased arm span.
Beighton Score for Hypermobility
The Beighton score is used to assess joint hypermobility. The maximum score is 9. A score of 6 or more in children indicates generalised joint hypermobility:
- Palms flat on the floor with straight legs (scores 1)
- Elbow hyperextension (scores 1 for each side)
- Knee hyperextension (scores 1 for each side)
- Thumb can bend to touch the forearm (scores 1 for each side)
- Little finger hyperextends past 90 degrees (scores 1 for each side)
Management
There is no cure for Ehlers-Danlos syndrome. Management focuses on maintaining healthy joints, monitoring for complications and managing symptoms. Management involves:
- Physiotherapy to strengthen and stabilise the joints
- Occupational therapy to maximise function
- Moderating activity to minimise flares
Hypermobility can make patients prone to injury and increased joint wear, leading to early osteoarthritis.
Postural Orthostatic Tachycardia Syndrome
Postural orthostatic tachycardia syndrome (POTS) can occur with hypermobile Ehlers-Danlos syndrome. It is a result of autonomic dysfunction. It causes an excessive rise in heart rate on standing, with symptoms including palpitations, dizziness, presyncope, fatigue, headache, nausea and tremor.
Management of POTS includes maintaining hydration, increasing salt intake, compression (e.g., stockings) and avoiding triggers.
Specialist drug options include fludrocortisone, midodrine, beta-blockers and ivabradine.
Last updated August 2026
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