Ehlers-Danlos syndrome – Find out about the signs, symptoms and treatments of Ehlers-Danlos syndrome

Ehlers-Danlos syndrome awareness month May 2015
Ehlers-Danlos syndrome awareness month 

Ehlers-Danlos syndrome (EDS) is the name for a group of rare inherited conditions that affect connective tissue.

Connective tissues provide support in skin, tendons, ligaments, blood vessels, internal organs and bones.

There are several different types of EDS that may share some symptoms, including:

  • an increased range of joint movement (joint hypermobility)
  • stretchy skin
  • fragile skin that breaks or bruises easily

The different types of EDS are caused by faults in certain genes that make connective tissue weaker. Depending on the type of EDS, the faulty gene may have been inherited from one parent, or both parents.

Sometimes the faulty gene isn’t inherited, but occurs in the person for the first time.

EDS can affect people in different ways. For some the condition is relatively mild, while for others their symptoms can be disabling. Some of the rare severe types can be life-threatening.

 

Main types of EDS

EDS-hypermobile type is the most common type of EDS. Rarer types include classical EDS, vascular EDS and kyphoscoliotic EDS.

EDS-hypermobile type

EDS-hypermobile type (EDS-HT), also known as hypermobile EDS or EDS type III, is often thought to be the same as or very similar to another condition called joint hypermobility syndrome.

People with EDS-HT may have:

Currently, there are no tests to confirm whether someone has EDS-HT. The diagnosis is made based on a person’s medical history and a physical examination.

Classical EDS

Classical EDS (previously EDS types I and II) is less common than hypermobile EDS and tends to affect the skin more.

People with classical EDS may have:

  • joint hypermobility
  • loose, unstable joints that dislocate easily
  • stretchy skin
  • fragile skin that can split easily – especially over the forehead, knees, shins and elbows
  • smooth, velvety skin that bruises easily
  • wounds that are slow to heal and leave wide scars
  • hernias and organ prolapse

Vascular EDS

Vascular EDS (previously EDS type IV) is a rare type of EDS and is often considered to be the most serious. It affects the blood vessels and internal organs, which can cause them to split open and lead to life-threatening bleeding.

People with vascular EDS may have:

  • skin that bruises very easily
  • thin skin with visible small blood vessels, particularly on the upper chest and legs
  • fragile blood vessels that can bulge or tear, resulting in serious internal bleeding
  • a risk of organ problems, such as the bowel tearing, the womb tearing (in late pregnancy) and partial collapse of the lung
  • hypermobile fingers and toes, unusual facial features, (such as a thin nose and lips, large eyes and small earlobes), varicose veins and delayed wound healing

Kyphoscoliotic EDS

Kyphoscoliotic EDS (previously EDS type VI) is rare.

People with kyphoscoliotic EDS may have:

  • curvature of the spine – this starts in early childhood and often gets worse in the teenage years
  • joint hypermobility
  • loose, unstable joints that dislocate easily
  • weak muscle tone from childhood (hypotonia) – this may cause a delay in sitting and walking, or difficulty walking if symptoms get worse
  • fragile eyes that can easily be damaged
  • soft, velvety skin that is stretchy, bruises easily and scars

Getting medical advice

See your GP if you have several troublesome symptoms of EDS.

You don’t usually need to worry if you only have a few symptoms and they’re not causing any problems. Joint hypermobility, for example, is common in healthy people and is unlikely to be caused by EDS if you don’t have any other symptoms.

Your GP may refer you to a joint specialist (rheumatologist) if you have problems with your joints and they suspect EDS. If there’s a possibility you may have one of the rare types of EDS, your GP can refer you to your local genetics service for an assessment.

The local genetics specialist will ask about your medical history, family history, assess your symptoms and may carry out a genetic blood test to confirm the diagnosis.

If further investigation is needed, your hospital doctor can refer you to a  specialist EDS diagnostic service based in Sheffield and London.

Living with EDS

There’s no specific treatment for EDS, but with support and advice it’s possible to manage many of the symptoms.

Adapting your activities

It’s important to be careful about activities that put a lot of strain on your joints or put you at risk of injury. However, it’s important not to be overprotective and avoid living an otherwise normal life.

Advice will depend on which type of EDS you have and how it affects you.

  • you may be advised to avoid some activities entirely, such as heavy lifting and contact sports
  • for some activities, you may need to wear appropriate protection and be taught how to reduce the strain on your joints
  • lower-risk activities, such as swimming or pilates, may be recommended to help you stay fit and healthy
  • if fatigue is a problem, you can be taught ways to conserve your energy and pace your activities

For more tips and advice on joint care, you can read about living with EDS on the Ehlers-Danlos Support UK website.

Specialist support

People with EDS may also benefit from support from a number of different healthcare professionals. For example:

  • a physiotherapist can teach you exercises to help strengthen your joints, avoid injuries and manage pain
  • an occupational therapist can help you manage daily activities and give advice on equipment that may help you
  • counselling and cognitive behavioural therapy (CBT) may be useful if you’re struggling to cope with long-term pain
  • for certain types of EDS, regular scans carried out in hospital can detect problems with internal organs
  • genetic counselling can help you learn more about the cause of your condition, how it’s inherited, and what the risks of passing it on to your children are (see below)

Your GP or consultant can refer you to these services.

How EDS is inherited

EDS can be inherited, but in some cases it occurs by chance in someone without a family history of the condition.

The two main ways that EDS is inherited are:

A person with EDS can only pass on the same type of EDS to their children. For example, the children of someone with hypermobile EDS can’t inherit vascular EDS.

The severity of the condition can vary within the same family.

Marfan syndrome – what are the signs and symptoms of Marfan syndrome?

Marfan syndrome
Marfan syndrome

Symptoms of Marfan syndrome

Marfan syndrome can affect many parts of the body, including the skeleton, eyes, and heart and blood vessels (cardiovascular system).

The severity of the symptoms varies widely. Some people experience a few mild symptoms, whereas others – about 1 in 10 – experience more severe symptoms.

The symptoms of Marfan syndrome tend to get more severe as a person gets older.

Skeleton

Someone with Marfan syndrome may have several distinct physical characteristics. They may be:

tall and slim, with long, thin arms and legs

have loose and very flexible joints

If your child is particularly slim or tall for their age, it doesn’t necessarily mean they have Marfan syndrome. It’s a rare syndrome, and your child will usually have a number of other symptoms if they have it.

Other physical characteristics of Marfan syndrome can include:

a small lower jaw

a high, arched palate (roof of the mouth)

deep-set eyes

flat feet

a breastbone (sternum) that either protrudes outwards or indents inwards

crowded teeth

Scoliosis

Marfan syndrome can cause the spine to become abnormally curved to the sides. This is known as scoliosis.

Curvature of the spine can cause long-term backache. In severe cases, it can also make breathing difficult as the spine may press against the heart and lungs.

Spondylolisthesis

Spondylolisthesis is where one of the bones in your spine (a vertebra) slips forward over another vertebra.

This usually occurs in the lower spine, and can cause back pain and stiffness. Anyone can develop spondylolisthesis, but it more commonly affects people with Marfan syndrome.

Dural ectasia

The dura is the membrane that lines your brain and spinal cord. Dural ectasia is a condition where the dura becomes weakened and expands outwards.

People with Marfan syndrome are at particular risk of developing dural ectasia. As the membrane expands, it can press on the vertebrae in your lower back, which can cause:

backache

headache

numbness or pain in your legs

Eyes

Many people with Marfan syndrome have some type of vision problem.

Lens dislocation affects half of all people with the syndrome. This is where the eye’s lens, the transparent structure that sits behind the pupil and focuses light, falls into an abnormal position.

Other possible eye-related symptoms of Marfan syndrome include:

myopia – short-sightedness

glaucoma – increased pressure in the eyeball which, left untreated, can cause permanent vision loss

aortic anyurism – where cloudy patches develop in the eye’s lens, causing blurred or misty vision

retinal detachment – where the light-sensitive layer of cells at the back of your eye (retina) begins to pull away from the blood vessels that supply it with oxygen and nutrients

Cardiovascular system

Marfan syndrome can affect the cardiovascular system, which is made up of your heart and blood vessels. It’s particularly serious if your aorta and heart valves are affected.

Aorta

The aorta is the main artery in the body. It runs from your heart, down the centre of your chest, and through your abdomen.

In people with Marfan syndrome, the walls of the aorta are weak. This can sometimes cause the aorta to enlarge and balloon, which is known as an aortic aneurysm.

In severe cases, the aorta can split (rupture), causing potentially fatal internal bleeding.

Valves

Your heart has four chambers that pump blood to and from the rest of the body. To control the flow of blood through your heart’s chambers, your heart has four valves:

mitral valve

aortic valve

tricuspid valve

pulmonary valve

These valves act as one-way gates, allowing blood to flow through in one direction. In some people with Marfan syndrome, the mitral or tricuspid valves don’t close properly and blood leaks back through the valve.

Read more about common mitral valve problems.

The aortic valve may also leak, leading to the main pumping chamber (left ventricle) gradually becoming enlarged.

Monitoring

If your GP thinks you may have Marfan syndrome, you’ll be referred to a specialist for testing. Your heart and blood vessels will be examined for the symptoms of the syndrome.

Read more about diagnosing Marfan syndrome.

Stretch marks

Stretch marks are pink, red, or white streaks in the skin. They can appear when you gain or lose weight quickly, when you have a growth spurt during childhood, or during pregnancy.

People with Marfan syndrome often develop stretch marks because the tissue in their skin is weakened and the skin isn’t as elastic as it should be.

If you have Marfan syndrome, stretch marks are most likely to appear on your:

shoulders

hips

lower back

Over time, they’ll gradually fade to a silvery colour and will be difficult to see.

Ergonomics – the complete guide to proper posture

Ergonomics - the complete guide to proper posture
Ergonomics – the complete guide to proper posture

Did you know that when you are sitting at your desk, your eyes should be level with the top of your monitor? Most people these days are more likely to be looking down at a laptop that is closer to chest level or lower. Looking downward like that at a laptop or even worse, a mobile phone, can increase the force to your spine by a whopping 50lbs. After an eight hour workday, these forces can have costly effects on your body.

Proper ergonomics can make a huge difference in the way that you work and feel in the office. A new infographic from cloud communication advisor, GetVoIP, outlines the proper posture with their complete ergonomics guide.

New App Designed to help Tackle Musculoskeletal Disorders

New App Designed to help hairdressers Tackle Musculoskeletal Disorders
New App Designed to help hairdressers Tackle Musculoskeletal Disorders

Musculoskeletal disorders or MSDs can arise from repeated repetitive strain or movement or awkward posture. Hairdressing is one of the industries heavily affected by the condition and it’s hoped the new app and a campaign targeting hairdressers will help the industry prevent and fight the disorder

Hairdressers across the UK are being targeted in a campaign aimed to prevent the onset of Musculoskeletal Disorders in workers.

Hairdressing is one of the industries most affected by the condition, with standing for long periods of time, repetitive gestures and bad posture while blow drying and shampooing, blamed for a host of medical conditions such as severe back and neck pain and carpal tunnel syndrome affecting the hands and wrists. In the US alone it is estimated that twenty billion dollars is lost due to absenteeism and financial compensation.

As the worldwide industry leader, L’Oréal Professionnel have been working with the Global Alliance for Musculoskeletal Health to help the world’s 7 million hairdressers prevent and fight Musculoskeletal Disorders, which account for 75% of the profession’s health issues.

The announcement was made at the largest European gathering of hair industry elite for the brand, attended by 2,200 hairdressers from over 50 countries, with the aim of raising the standard and working conditions of the global hairdressing Industry.
Beyond the significant financial implications, research suggests musculoskeletal disorders (MSDs) can lead to hair stylists having to retire up to a decade early.

The programme, L’Oréal Professionnel With You Against MSDs, aims to train hairdressers and provide them with a 15-minute daily exercise regimen to prevent and fight the disease in the workplace. It was developed in partnership with the Global Alliance for Musculoskeletal Health, an international network of 1000 professionals including scientists, physicians and osteopaths across 100 countries. Since its launch in 2015, over 100 000 hairdressers have been trained.

Also developed in partnership with the Global Alliance for Musculoskeletal Health, the new free to access app, “15 Coach” announced at the event, hopes to reach all 7 million hairstylists worldwide, in addition to their commitment to train all 1,000,000 L’Oréal Professionnel partners by 2018.

Hip Pain Cardiff. We are building a community of patients, their carers, surgeons, physiotherapists, academic researchers and more. Please join us!

Cast Life – A Parent’s Guide to DDH Natalie Trice
Cast Life – A Parent’s Guide to DDH Natalie Trice

Improving awareness and understanding of young people’s hip conditions.

Patients, clinicians and researchers investigating Hip Dysplasia, Perthes and Slipped Upper Femoral Epiphysis.

On 28th October, as part of a series of Economic Social Research Council funded seminars, Hip Pain Cardiff will be focusing on the consequences of paediatric developmental dysplasia of the hip (DDH) and changes that need to be made.

Patients, family members and carers will be joined by leading Orthopaedic Surgeons John O’Hara and John Clegg at Cardiff University to discuss how diagnosis and treatment can be enhanced, pain can be managed and lives can be improved.

Sally Scott, Consultant Radiologist will also be speaking together with Natalie Trice from Spica Warrior and Emma Morley from Steps both of whom have personal experiences with the condition and work in the field. There will also be the opportunity for networking as well as Q and A Panel sessions.

Tina Gambling, Director of Postgraduate Research at Cardiff University, said, “At Hip Pain Cardiff we are committed to improving the lives of children, young people and adults with DDH (Hip Dysplasia). This event is an opportunity to bring together our key stakeholders and find out what they want so we can then use our research to influence positive change with the Government and health service policy.”

Natalie Trice, Founder of Spica Warrior, the UK’s only dedicated DDH charity, commented, “I am delighted to be an expert speaker at this much needed event. My sister, two cousins and son have DDH so I know only too well the effects it can have on the patient and wider family. We believe increased awareness of DDH can help with early diagnosis and prevent lives being blighted by arthritis, immobility and hip replacements. We are looking forward to working with Hip Pain Cardiff to drive forward change and reform and see this event as the first step in that process.”

“It is disheartening that we get still get so many adults referred to us for surgery when with one screening test this condition could almost disappear”, further added John O’Hara Consultant Surgeon Royal Orthopaedic Hospital Birmingham

 For more details about the event, details about attendance funding and to book tickets go to http://www.hippaincardiff.com