Classical EDS (cEDS)

Classical EDS (cEDS) is characterised by joint hypermobility, very stretchy skin, and fragile skin which leads to significant bruising and widened, sunken (atrophic) scars.

There have been major advances in the understanding of cEDS in the last 20 years, now making it possible to confirm the diagnosis by genetic testing in the majority of people with the condition.

Making a diagnosis of classical Ehlers-Danlos syndrome (cEDS)

 

It is often possible to make a diagnosis of classical EDS from a clinical examination together with details of a person’s medical history.

 

The clinical features to look for include:

 

  • Fragile skin which can split easily with minimal trauma. This leads to significant scarring usually starting from childhood.  The common sites for scars are on the knees, elbows, shins, forehead and chin. The scars tend to become wide with a thin appearance often described as being “like tissue paper”. (Surgical wounds, particularly those on the knees, often heal to leave an obvious scar. So, wide scars following knee surgery are not a good indicator for classical EDS.)
  • Stretchy skin, often very stretchy!
  • Joint hypermobility, which may cause the joints to slip out of position resulting in dislocations or subluxations, and may be associated with chronic joint pain.
  • Easy bruising, which may lead to permanent discolouration and is often visible on the shins.
  • Fragile and extensible tissues can also result in hernias, prolapse and cervical insufficiency.

 

It is often possible to make a clinical diagnosis of classical EDS without further investigations. If there is any doubt about the diagnosis a skin biopsy may be considered to confirm or rule out the diagnosis. A skin biopsy involves a local anaesthetic injection to the skin of the inner, upper part of the arm (just down from the armpit). This numbs the area and a small piece of skin is removed. This skin is looked at under an electron microscope to see if there are changes to the structure of the collagen fibres. The changes seen in classical EDS are known as ‘collagen flowers’ or ‘cauliflower fibrils’.

 

Classical EDS is a genetic condition, but genetic testing is not always needed to make a diagnosis. In fact, the genetic cause still cannot be identified for all patients with a diagnosis of classical EDS. Some people with classical EDS have an alteration in either the COL5A1 or COL5A2 genes. If a gene change can be identified then genetic testing can be offered to other family members.

 

The COL5A1 and COL5A2 genes are the instructions for making collagen type V. When either gene is altered it causes a lack or deficiency of this collagen. This leads to disordered packing of collagen fibres making the connective tissue less effective, particularly in the skin and joints, leading to the recognised features of classical EDS.

 

Our genes come in pairs, as we inherit one from our mum and one from our dad. When someone with classical EDS has children they will pass on one copy of each gene to each of their children. So in every pregnancy, there is a 50% (1 in 2) chance of a child inheriting the altered copy of the gene and having classical EDS. There is the same chance of the child inheriting the unaltered gene copy and not having the condition. Not everyone with classical EDS will have a family history as it can start for the first time in a person. In this situation there is still a 50% chance of it being passed on. 

 

Living with classical EDS

One of the main issues for people with classical EDS is the fragility of their skin. The skin is prone to splitting and the scars left from any wounds often widen over time. It is therefore helpful to try and protect the skin against injury and important to get any wounds well-stitched to help reduce scarring.

 

Treatment for wounds

  • Try and receive treatment as quickly as possible to close a wound.
  • Open wounds should be stitched (sutured) in layers preferably by a plastic surgeon (request this when you attend A & E). Ideally it is helpful to be known to your local plastic surgeons so that they can be called if you attend A & E.
  • Stitches need to be left in place for longer than usual (approximately twice as long as normal).
  • Steri-strips can be used as well as stitches as an additional measure.
  • Wounds on the arms or legs may particularly benefit from extra support with steri-strips and a tubular bandage.

 

Protection of the skin from injury

A lot of people with classical EDS will develop scars in young childhood, as children tend to have more bumps and trips than adults. If the diagnosis of classical EDS is known from an early age, then effective skin protection can give long-term benefits.

 

We asked people with classical EDS what they found useful in managing the condition in their daily life. There were some helpful responses about how to try and avoid injuries to the skin. These responses included:

 

  • Limit bare skin and wear multiple layers of clothing to increase protection and reduce the risk of abrasions.
  • Protect bruises with padding or tubular bandage to reduce the risk of the skin over the bruised area splitting.
  • Using a plain moisturiser to avoid the skin drying out.
  • Wearing shin pads, knee pads and elbow pads (as appropriate) for outdoor activities. Shin pads can be specifically made to measure by the appliance department at your local hospital and your GP can make this referral.
  • Wear a helmet for cycling.

 

Advice for parents of young children with classical EDS

Most people, especially children, don’t want to appear different or be treated differently. However, restricting some activities and using additional protection is recommended for children with classical EDS. Parents need to find a balance between restrictions and risks. Children need to be allowed to lead as normal a life as possible but without exposing them to unnecessary risks.

 

It is very difficult to produce an exhaustive list of ‘Dos and Don’ts’ but a sensible approach is needed to avoid very high risk activities. It is always important to focus on the health of the child which not only includes providing a safe physical environment but also their emotional wellbeing. They may need some extra support and understanding. Be flexible so that alternatives can be offered where participation in a particular activity is not safe.

High risk activities to avoid

Contact sports such as rugby, ice hockey, boxing and martial arts. Although football and basketball are not true contact sports the risk of injury is high. Playing at a competitive level is to be discouraged.

 

If joint dislocations are a problem this may limit particular activities, for example trampolining is not encouraged due to the risk of damage to the joints.

 

Activities to be encouraged

General health is important and regular gentle exercise should be encouraged. People with classical EDS often become experts in knowing what they can and can’t do. Fatigue and joint pain can be part of classical EDS and regular gentle exercise helps to reduce these effects of the condition.

 

Adults with classical EDS often benefit from Pilates as this helps to build core strength and helps to protect the joints. Children should be encouraged to find gentle physical activities that they can enjoy, for example badminton, squash, table tennis, bowling, walking and swimming. Alternative leisure pursuits should also be encouraged for children with classical EDS to help develop long-term interests that will not be limited by the condition, for example music, drama, arts and crafts.

 

Physiotherapy and occupational therapy

Physiotherapy is often beneficial for children with significant joint hypermobility. A referral to a Paediatric Rheumatologist can help as they can refer on to a physiotherapist with experience of hypermobility. Adults may also benefit from physiotherapy, and Pilates exercises can be really beneficial in the long term.

 

Referral to occupational therapy can also be helpful for a number of reasons. School, home and workplace assessments can be carried out and recommendations made for appropriate aids to assist with the tasks of daily living. Occupational therapists can also give advice on ways to get a good night’s sleep and how to pace activities. Pacing is very important to avoid the boom and bust phenomenon and extreme fatigue that can follow a period of over-activity.

 

Cardiac screening

There is little clear-cut evidence on cardiac screening for classical EDS. We would suggest cardiac echoes (ultrasound scans of the heart) are started in childhood and repeated regularly because of the possibility that the heart valves may be floppy.

 

Pregnancy

Women with classical EDS need to inform their midwives and obstetrician of their diagnosis as additional care will be needed during delivery, due to a higher risk of vaginal and perineal tearing.

 

There is also an increased risk of early rupture of membranes and premature delivery if either parent has classical EDS. This is because the membranes surrounding the baby can be weak or fragile.

 

Other features of classical EDS

  • Piezogenic pedal papules – fat lumps that are visible around the heel of the foot. This is due to the fat pad under the foot not being well held in place because of the weak connective tissues.
  • Molluscoid pseudotumours – fleshy lesions over elbows and knees associated with scars.
  • Subcutaneous spheroids – small hard nodules that are movable under the skin, due to fat lobules that have lost blood supply and calcified. These are commonly found on the skin over the bones of the arms and legs.
  • People with classical EDS do not seem to get any stretch marks, even women who have had a number of pregnancies.

 

Whilst these are features that may help to make a diagnosis of classical EDS they are not found in everyone and are not in themselves harmful. These features may also be found in people who do not have classical EDS.

 

Information for relatives

Classical EDS is a genetic condition, it runs in families following a pattern called autosomal dominant inheritance. It is called this because the altered copy of the gene is dominant over the other copy and autosomal means it can affect, and be passed on by, both males and females. It can start for the first time in someone, or be inherited from either parent. Once someone is diagnosed with classical EDS we know there is a 50% (1 in 2) chance for any children of that person to inherit the condition. Usually the diagnosis is apparent from a young age due to the skin fragility. Other family members may wish to be referred to their local clinical genetics department for clinical evaluation.

The Ehlers–Danlos Syndromes, Rare Types
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Please note: The above information cannot and should not replace advice from the patient's healthcare professional(s). Any person who experiences symptoms or feels that something may be wrong should seek individual, professional help for evaluation and/or treatment. This information is for guidance only and is not intended to provide individual medical advice.

 

The information in this article is based on the experience and expertise of the UK’s EDS National Diagnostic Service.

 

Peer reviewed by: Dr Glenda Sobey, Consultant Dermatologist, EDS National Diagnostic Service, Sheffield Children's Hospital and Carole Cummings, Genetic Counsellor, EDS National Diagnostic Service, Northwick Park and St Mark's Hospitals

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