Practice A patient's journey

Ehlers-Danlos syndrome

BMJ 2007; 335 doi: http://dx.doi.org/10.1136/bmj.39237.484468.80 (Published 30 August 2007) Cite this as: BMJ 2007;335:448
  1. Frances Gawthrop, trustee, Ehlers-Danlos Syndrome Support Group1,
  2. Rae Mould, patient's mother2,
  3. Amanda Sperritt, patient3,
  4. Fiona Neale, patient4
  1. 1Ash, Surrey
  2. 2York
  3. 3Chippenham
  4. 4Loughborough
  1. Correspondence to: F Gawthrop director{at}ehlers-danlos.org
  • Accepted 11 April 2007

These three case histories illustrate the many problems facing patients with Ehlers-Danlos syndrome in its various forms

Patient 1: Jacqueline Mould

At birth my daughter, Jacqueline, had very visible veins on her head and body. She bruised badly when she fell. The doctors said it was nothing—just thin skin. Then, when she was 12 years old she developed an unusual localised rash on her knees. A dermatologist said she had perforating elastoma. She was an “interesting case,” but he did not know the cause. At age 23 Jacqueline developed pain in her legs. The doctor said it was just varicose veins—there was nothing to be done except to avoid standing and to wear support stockings. The pain got worse and Jacqueline went for a hospital consultation. At the clinic blood was taken and she bled for 13 minutes. She was sent to a joint consultation with a haematologist and a dermatologist, who said she should see a specialist interested in the genetics of Ehlers-Danlos syndrome. Still we had no idea of what was going on.

We waited two years to see the geneticist. He commented on her facial features and tested her joints, which were not hypermobile. He told us that Jacqueline had the vascular type of the syndrome. No one in the family was like her—her condition was caused by a mutation. She was told that she should not have children, must not take part in contact sport, and must avoid physical stress. We were invited to ask questions, but it was all too much of a shock. We went home in silence. Jacqueline was particularly distressed about not being able to have children.

When I read the literature of the Ehlers-Danlos Syndrome Support Group I realised the full horror of probable sudden death. I felt numb. Jacqueline was a fit young woman in full time employment who was enjoying her life. I left the literature for her to read if she wished. She decided not to tell her friends about her illness. She had episodes of depression, but together we decided to carry on as normal.

Two years later, at work, Jacqueline's legs suddenly went numb. She was taken to the local hospital. The doctors didn't know about Ehlers-Danlos syndrome. They found nothing wrong and said she could go home. At this point Jacqueline collapsed. After resuscitation it was realised that she was bleeding internally. A renal artery had ruptured and despite surgery Jacqueline died on the operating table.

Today I work with the Ehlers-Danlos Syndrome Support Group to improve awareness of this rare condition and to help support those who have to face its problems.

Patient 2: Amanda Sperritt

I am 36 years old and have hypermobile Ehlers-Danlos syndrome. As a child I was “double jointed”—able to do party tricks that made people say “yuk.” When I was 15 my hips began to slip spontaneously. My general practitioner said that it was my imagination. Later, at college, I could only shuffle, hips slipping out with every step. I was referred to hospital. The consultants were mystified. They insisted I would grow out of it.

Later, I was admitted to hospital and told that I had Ehlers-Danlos syndrome. The consultant stayed for only 10 minutes and spent most of this time telling me off for smoking, leaving me to find out the implications of the diagnosis for myself. I was devastated. Since then the symptoms have progressed. I have persistent pains in my shoulders, hips, neck, back, and hands. I have difficulty in standing and walking. I use a stick and occasionally a wheelchair. My grip is poor. I can't write or even type easily. I have stretchy, fragile skin that doesn't heal well. I have trouble speaking and swallowing. I get palpitations and night sweats.

Visiting hospital consultants has been unhelpful. They have so little time. Often I am just shown to medical students as an interesting case. Physiotherapists are much better. They allow me to play an active part in my treatment and have taught me to use my muscles to protect my joints.

Cannabis was also helpful. I learnt to grow my own and it reduced my dependence on pills. I slept better and I could do more physiotherapy and even a part time job. I told my doctors; none objected but my secret got out. The police came and took my plants away. A judge regarded my action as wrong doing and left me with a criminal record. How can that be right?

I have tried alternative medicine but always make sure that the practitioners know about the syndrome. The Alexander technique is good for relaxation and posture awareness. A short course of acupuncture also had a positive effect. My present philosophy is, “get all the information and advice you can and use what works for you.”

An unconventional body doesn't suit a conventional lifestyle. I haven't slept all night for 17 years. I often wake up after a couple of hours, drenched in sweat. I arrange my life so that I can sleep when I need to and have devised ways of getting back into activities such as art, music, and cookery. I help my sister with charity work for severely disabled children. Once more I feel that I am making a contribution to society.

The most helpful professionals treat me as a partner in the management of my condition. They listen to the information I discover and support me in my struggle to get the equipment, services, and financial help that I need to make life that bit easier.

Patient 3: Fiona Neale

I am now 33 years old and like many people with Ehlers-Danlos syndrome I was in my late teens before being diagnosed. This delay had a big effect on how I was treated by doctors and how I coped with my condition. All the clues were there—hernia repair aged 4, flexible joints, easy bruising, and flat feet with unstable ankles, but for many years no one put it all together to make a diagnosis. My symptoms were regarded as unimportant, and with my flexible joints at least I was good at sports like acrobatics.

When I was about 11 joint pains became a problem. An injury to my elbow took a year to resolve; the symptoms from a badly sprained ankle persisted and the joint subluxed. Without a linking diagnosis I was regarded as “neurotic” and possibly “attention seeking.” My feet became very painful and I couldn't walk any distance or stand for a long time. I took painkillers and had to use crutches. I was told never to consider using a wheelchair. Yet a lightweight wheelchair, that I could use as required, would have increased my mobility and the quality of my life. By the time I was 15 I was in daily pain, I could no longer do sport, and I wished I was dead. I was bullied at school for being different, and many of my physical problems were thought to be in my head. I hoped that this was true because if the pains were not real then all I had to do was get my head right and I would be “normal” again.

At university, after minimal trauma, I dislocated my shoulder and was sent to hospital. I was referred to a genetic counsellor who told me that I had Ehlers-Danlos syndrome. He put me in touch with the support group. Reading their literature I soon realised that I was not alone and that all the many problems were due to Ehlers-Danlos syndrome. Over the years I have dislocated and semidislocated many joints including my shoulders, wrists, ankles, knees, right hip, and fingers. A car accident when I was 20 left me having to use a wheelchair. This increased my mobility and decreased the pain in my legs (before this I had been struggling with crutches and callipers). When I was about 24 I developed a progressive kyphoscoliosis. I accepted the risks of surgical correction, which left me with a T6/7 incomplete paraplegia. After the surgery I developed encephalitis, which damaged my pituitary gland—I became dependent on cortisol and developed a condition called postencephalitic hypersomnolence.

For much of my life living with the syndrome has been a battle—me against “it.” I feel that if I give in to my disability it has won. I can be very stubborn and Ehlers-Danlos syndrome can be very unforgiving—not a good combination! But life is a balance. To minimise the risk of injury I have adapted my life as much as possible and I ask for help when I need it. The “Access to work” programme has been brilliant in providing equipment and helping adapt my workplace.

I am determined to live as full and as active a life as possible and am helped by my general practitioner, physiotherapist, friends, and family. The problems associated with the syndrome are a daily challenge, but they have not stopped me from getting on with life, gaining a degree, winning a silver medal for swimming at the Sydney 2000 Paralympic Games, teaching in a primary school, and working as a sports development officer.

Additional information for patients

  • Association Francaise des Syndromes d'Ehlers-Danlos (www.afsed.com)—French patient support group

  • Ehlers-Danlos Foundation of New Zealand (www.edfnz.org.nz)—New Zealand patient support group

  • Asociación Sindromes de Ehlers-Danlos e Hiperlaxitud (www.asedh.org)—Spanish patient support group

  • Ehlers-Danlos Support Group (www.ehlers-danlos.org)—UK patient support group

  • Ehlers-Danlos National Foundation (www.ednf.org)—US patient support group

When I see a doctor it helps to be told the treatment options and their likely outcomes, to have full answers to my questions, and to be involved in making decisions about my treatment. It is vital that doctors are aware of the implications of Ehlers-Danlos syndrome and adjust treatments and surgical techniques accordingly. Without this the long term outcome of procedures may be poor.

Doctors' perspective

Each of these moving case histories illustrates the many problems that beset patients with Ehlers-Danlos syndrome in its various forms. What pervades all three accounts is an almost universal lack of understanding and awareness of the syndrome in medical circles at all levels.

The first patient died in her prime, an active young woman. Her story is a succession of missed opportunities to diagnose the vascular form of the disease. Originally classified “type IV,” it is a rare but lethal autosomal dominant form of the disease. The correct diagnosis was made only in her mid-20s, yet the signs were present at birth. This form of the syndrome results from mutations in the gene for type III procollagen (COL3A1). Affected patients are at risk for arterial, bowel, and uterine rupture, events that occur mostly between the ages 20 and 40. In one study median survival was 48 years. Most deaths result from arterial rupture. The apparent lack of knowledge about the syndrome shown by most of the doctors this patient saw, the delay in seeing a suitably trained specialist, and the absence of laboratory corroboration of the diagnosis all led to the tragic outcome. Genetic testing for Ehlers-Danlos syndrome has always been difficult to obtain in the United Kingdom, and in the past specimens have been sent abroad. However, gene sequencing for this form of the disease is now offered by the North Trent Molecular Genetics Service in Sheffield.

The second patient gives a classic description of the common form of the syndrome, both in terms of her lifelong symptoms and the reactions of her medical advisors—typically bemusement, mystification, and disbelief—a familiar blend of emotional responses to clinical encounters with this condition. She has the hypermobility form of the syndrome, previously known as type III and synonymous with benign joint hypermobility syndrome. Her brush with the law is certain to raise eyebrows. Her case illustrates the perennial problem of chronic pain, a common complication in this form of the syndrome, yet little is known in medical circles about the syndrome, despite a burgeoning literature. The pain responds poorly, if at all, to the most potent conventional analgesics. Is it surprising that patients seek relief from unconventional sources? Patients with this syndrome often have to rely on their own resources, yet physical rehabilitation and pain management can play a valuable part in management.

The third patient's sequence of symptoms was misunderstood, misinterpreted, and mishandled, and her condition remained undiagnosed throughout her childhood and adolescence. The hypermobility form of Ehlers-Danlos syndrome has had a major impact on her life, but she too has shown great resourcefulness and strength, which has enabled her to battle on in the face of increasing disability, not least the unfortunate postoperative paraplegia after surgery for scoliosis.

The ramifications of Ehlers-Danlos syndrome are wide and various, and the effects may be disabling and even life threatening. Emerging data suggest that while the vascular form is fortunately rare, the hypermobility form is common but continues to go undetected, or worse still, ignored.

Footnotes

  • Rodney Grahame and Alan Hakim, Hypermobility Clinic, Centre for Rheumatology, University College Hospital, London NW1 2PQ; both of these contributors are members of the Ehlers-Danlos Support Group's medical advisory panel.

  • Contributors: RM, AS, and FN each wrote their own section of the main article; FG gave advice and coordinated the process; RG and AH supplied the box.

  • Competing interests: RG has acted as an expert witness in cases of Ehlers-Danlos syndrome. The other authors have nothing to declare.

  • Provenance and peer review: Commissioned; not peer reviewed.

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