Hello and welcome back to the ThreeSpires Physiotherapy blog where we take a look at all things physiotherapy and health related. Continuing on from our last article about hypermobility syndrome we will in this blog post examine another form of connective tissue disorder: Ehlers-Danlos Syndrome. This forms part of our ongoing series of articles about paediatric physiotherapy and conditions that can affect children.

What is Ehlers-Danlos Syndrome?

Ehlers-Danlos Syndrome is a connective tissue disorder that can be split into several types (this is beyond the scope of ths article) and is inherited from parents. It is caused by a defect in the collagen which is present throughout the body in the skin, ligaments and tendons and causes these structures to become more elastic and stretchy.

How Common is Ehlers-Danlos Syndrome?

Some of the types of Ehlers-Danlos Syndrome are very rare but in general it is present in approximately 1 in every 5000 people.

What are the Symptoms of Ehlers-Danlos Syndrome?

As mentioned Ehlers-Danlos Syndrome has a wide variety of symptoms some of which depend upon the exact classification and type of Ehlers-Danlos Syndrome. The following list describes some of the most common symptoms:

• Hyperflexible and sometimes unstable joints.
• Joint Pain
• Torn muscles, tendons and ligaments.
• Spinal deformities such as scoliosis
• Widespread muscle pain
• Fragile skin
• Poor scar healing
• Various heart defects and problems
• Nerve compression
• Hernias and prolapses

How is Ehlers-Danlos Syndrome Diagnosed?

A diagnosis of Ehlers-Danlos Syndrome will usually be made in childhood but sometimes due to such a wide range of symptoms it can be difficult and frustrating to get the diagnosis. Ehlers-Danlos Syndrome is usually diagnosed via a combination of clinical symptoms, skin biopsy and genetic testing. A key aspect of clinical symptoms of Ehlers-Danlos Syndrome will relate to the degree of joint mobility that the patient has whch is generally classified using the Beighton Criteria.

What Causes Ehlers-Danlos Syndrome?

Ehlers-Danlos Syndrome is a genetic condition caused by faulty genes which may have been inherited from either both or just one parent. Sometimes the faulty gene is not inherited and is only present in the patient with Ehlers-Danlos Syndrome.

Treatment for Ehlers-Danlos Syndrome:

There is currently no cure for Ehlers-Danlos Syndrome and treatment revolves around establishing a good management plan and managing the symptoms of Ehlers-Danlos Syndrome such as joint pain. The following are some of the key parts of a good management plan for Ehlers-Danlos Syndrome. Whch are needed will depend upon the severity of symtoms:

1. Diagnosis: it is vital that you get a diagnosis of Ehlers-Danlos Syndrome as early as possible in the process. This allows the patient to understand the symptoms of Ehlers-Danlos Syndrome, how to manage them and also gets key medical and therapy staff involved in organising the best way to manage things.

2. Bracing: some patients with Ehlers-Danlos Syndrome may have very unstable joints, experience significant joint pain and have difficulty in mobilising due to these symptoms. In these cases orthopaedic bracing of the affected joints can help. Usually this will be done via an orthotist.

3. Assessment: as well as getting a diagnosis of the type of Ehlers-Danlos Syndrome it is alos important that anyone with Ehlers-Danlos Syndrome has a full assessment with someone experienced with the condition. This will give that person a clear idea of how to manage their symptoms, what strategies to use and what to expect. Knowledge really is power in conditions such as Ehlers-Danlos Syndrome.

4. Occupational Therapy: depending upon the nature of symptoms, many people with Ehlers-Danlos Syndrome will receive help from an occupational therapist. This can help with mobility aids, looking at ways of managing the activities of daily living and implements to help with fine motor activities such as writing or eating. 

5. Injections: sometimes patients with Ehlers-Danlos Syndrome will get severe joint pain and inflammation that is not responding to conservative management with bracing and normal anti-inflammatories. In these cases steroid injections can be helpful.

6. Exercise: patients with Ehlers-Danlos Syndrome usually need to strengthen their muscles and joints in order to prevent irritation of their joints. To understand which exercises are best it would probably be necessary to have an assessment with a physiotherapist.

7. Hydrotherapy: often people with Ehlers-Danlos Syndrome (especially those with severe symptoms) will have difficulty with strenuous weight bearing exercises. In these cases hydrotherapy which involves doing exercises in a warm pool can be helpful.

8. Physiotherapy: usually for anyone with Ehlers-Danlos Syndrome (especially for those with severe symptoms diagnosed in childhood) physiotherapy will form a key part of management.

9. Surgery: sometimes patients with Ehlers-Danlos Syndrome will not respond to conservative management and in these cases surgery may be the only option.

How Can ThreeSpires Physiotherapy Help With Ehlers-Danlos Syndrome?

So, as I have mentioned in many of our articles before I am clearly biased!! However, I really do believe that our physiotherapy service can be very helpful for anyone with Ehlers-Danlos Syndrome whether they are an adult or child. Our home visit physiotherapy service which is based in Lichfield but serves areas such as Sutton Coldfield, Tamworth, Cannock, Walsall and Rugeley has a large amount of experience of assisting patients with Ehlers-Danlos Syndrome and we will be able to help you understand your condition thoroughly and know how best to manage it. Our physiotherapist will be able to visit the person or child with Ehlers-Danlos Syndrome at home and perform a thorough assessment of their condition. This assessment will show the level of hypermobility, difficulties with strength and mobility and will then look at how best to manage these difficulties via appropriate exercises, ue of equipment and referral on to any other medical professionals as needed. Physiotherapy can be extremely helpful in reducing and managing some of the problems such as joint pain, reduced mobility, joint instability, dislocations and muscle pain. 

Okay, I hope that you have found this article about Ehlers-Danlos Syndrome helpful. If you or your child has Ehlers-Danlos Syndrome and you would like more information about our physiotherapy service then please get in touch.  We provide a home visit paediatric physiotherapy service anywhere within 20 minutes drive of Lichfield including areas such as Sutton Coldfield, Tamworth, Rugeley, Walsall and Cannock. We can be contated by email: enquiries@threespiresphysiotherapy.co.uk or via phone 0788 428 1623.