In a recent Instagram post actor, TV presenter and body positivity campaigner Jameela Jamil opened up about her experiences with Ehlers-Danlos syndrome.
Ehlers-Danlos syndromes (EDS) are a group of rare inherited conditions that affect connective tissues which support the skin, bones, blood vessels, and other organs. But how do you get a diagnosis, who is at risk and can you manage the condition?
Professor Ian C Chikanza consultant in rheumatology (adult & paediatrics) at The Harley Street Clinic, part of HCA UK, looks at the symptoms, diagnosis and treatment for the disorder:
What are Ehlers-Danlos syndromes?
Hypermobility, Ehlers-Danlos syndromes (EDS) and related conditions are heritable disorders of collagen and connective tissue, resulting in stretchy skin, increased range of movement of joints, and cardiovascular and joint laxity.
The conditions are therefore rheumatic and musculoskeletal disorders (RMD), belonging to the field of rheumatology. It is very important to see a rheumatologist with expertise in hypermobility disorders, in order to have an early diagnosis and management plan to improve the quality of your life and to prevent complications.
Symptoms of Ehlers-Danlos syndromes
The excessive range of joint movement seen in those with EDS can cause extra strain on joints, ligaments and muscles, and even partial dislocation (subluxation) or dislocation of joints.
Symptoms may also include unstable joints, joint pain, chronic body pains, heart burn and other stomach disturbances, urinary urgency, varicose veins, stretchy skin, dizziness and abnormal skin healing. Some of these features can be noticed at birth or in early childhood.
People with EDS typically have a normal lifespan. However, there can be complications in some rare types, which may include aortic dissection, sudden death and brain haemorrhage.
Types of Ehlers-Danlos syndromes
At present, there are 13 different types of EDS. Some forms are more common than others. They can be difficult to diagnose correctly. EDS can be inherited from a parent with the faulty gene or can be caused by spontaneous gene mutations and deletions.
The combined estimated prevalence of all types of EDS is at least about 1 in 5,000 individuals worldwide. The most common is hypermobile EDS (hEDS), occurring in approximately 80 to 90 per cent of EDS sufferers. This was previously called EDS Type III, or Benign Joint Hypermobility Syndrome. There are now new diagnostic criteria for hEDS.
The rarer forms of EDS, which include classic, vascular, kyphoscoliotic, arthrochalasia, dermatosparaxis and brittle cornea syndrome, will affect an estimated 1 in 200,000 people. A number of gene associations, deletions and mutations have been described and these may be used for genetic confirmation. Mutations in some of these genes can result in EDS.
Children and hypermobile disorders
EDS symptoms may appear later in life, such as during puberty, or can be triggered by trauma, stressful situations or infections, such as a virus. A lot of children with EDS have mild symptoms and may go unnoticed, or be diagnosed with ‘growing pains’.
It’s important to exclude an inflammatory RMD, such as juvenile idiopathic arthritis (JIA) – joint inflammation – first. hEDS children are more ‘bendy’ than their peers and this may cause joint instability. But each child is affected differently. In school, they may have difficulties with handwriting, tire quickly and have poor concentration.
The main goal is to meet the needs of the EDS child, without making them feel that they are different from their peers, and for them to lead as normal a life as possible. In some severe cases, a School Care Plan may be needed. It’s important that the child sees a paediatric rheumatologist with hypermobility disorders early, for a proper diagnosis to be made.
Diagnosis of hypermobile disorders and EDS
It’s very important to take a holistic approach to your medical symptoms, before attributing symptoms solely to hEDS or others forms of EDS. Other RMD conditions need to be excluded. It is highly recommended that you see a rheumatologist with expertise in hypermobility disorders.
A rheumatologist with expertise in hypermobile disorders will be able to assess you clinically, arrange specific tests and make the diagnosis for you. Some forms of EDS are associated with some genes. The rheumatologist will be able to arrange for you to have these genetic tests for confirmation of the diagnosis if it is appropriate.
You must remember that having a gene does not mean that it will manifest itself clinically. Other causes of hypermobility to be considered are Marfan’s syndrome, Homocystinaemia, Osteogenesis imperfecta, Stickler’s syndrome, Loef-Dietz Syndrome, Downs’ Syndrome and Pseudoxanthoma elasticum.
To date, no specific gene association has been described for hEDS. You may therefore need an evaluation of your diagnosis in line with the new hEDS diagnostic criteria.
Misdiagnosis of EDS
Prior to referral to a rheumatologist, patients may initially be misdiagnosed with hypochondriasis, depression, fibromyalgia, ME or chronic fatigue syndrome. Because it is often undiagnosed or misdiagnosed in childhood, some instances of EDS have been mischaracterised as child abuse.
EDS is a non-inflammatory RMD. It can take a long time to reach the diagnosis of Ehlers-Danlos syndromes and diagnosis can become more obvious as symptoms progress.
Treatment for hypermobile disorders
Your treatment will vary depending on the form and severity of your symptoms. A number of treatments and management plan options are available for hypermobile disorder and EDS suffers.
Depending on the type and clinical symptoms, your rheumatologist will tailor the treatment and management appropriately. Treatment may be medical or surgical, including physical therapy.
Living with EDS – available support
Your GP will work closely with your hypermobile rheumatology specialist, so that you get the best management of you condition in a holistic way – in other words, a thorough and full medical assessment.
There are also support groups available for those living with EDS. These groups give the opportunity for sufferers to come together to learn from each other and share stories with one another, providing a real sense of community.
Additional support
For additional support and information, visit the following:
- The Ehlers-Danlos Society: A non-profit organisation dedicated to patient support, scientific research, advocacy and awareness.
- Ehlers-Danlos Support: The only UK charity to support anybody touched by the Ehlers-Danlos syndromes.
- International Arthritis & Hypermobility Centre: A Rheumatology Professorial centre of clinical excellence. at The HCA Harley Street Clinic.
- Newlife: A charity for disabled children that can provide essential equipment, such as wheelchairs and buggies to aid mobility, sleep systems that prevent joints from dislocating, and specialist seating that protects posture.
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