Practice A Patient’s Journey

Behçet’s syndrome

BMJ 2009; 339 doi: https://doi.org/10.1136/bmj.b3876 (Published 05 October 2009) Cite this as: BMJ 2009;339:b3876
  1. Michael Hart, patient1,
  2. Robert J Moots, professor of rheumatology2
  1. 1Caergeiliog, Anglesey
  2. 2Aintree University Hospitals NHS Foundation Trust, University Hospital Aintree, Liverpool L9 7AL
  1. Correspondence to: M Hart michaelanddawn{at}btinternet.com

    Finding an effective treatment for Behçet’s syndrome has been a long and painful journey for Michael

    I was 18 and had just returned from a trip to Australia when lumps started to appear on my legs. The doctors thought it was deep vein thrombosis caused by the long flight and prescribed anti-inflammatory drugs, which seemed to calm things down. However, over the next few months I was very unwell—one week with tonsillitis, the next with an infection in my testicles, then back to tonsillitis, and so on. I also had bad mouth ulcers that sometimes made eating difficult. All of this was accompanied by flu-like symptoms, whereby my bones ached and I had very little energy.

    During the two years when I had repeated infections, I was admitted to hospital nine times. My mouth and genitals were ulcerated and lumps kept appearing. During one of these stays, I was taken for tests and found myself in the genitourinary medicine clinic. They suspected AIDS or something similar, and I was terrified. In my mind, I had gone from being just a nuisance to the doctors to someone who could have a life threatening disease.

    My tonsils were removed, but the ulcers and lumps continued unabated. Then I started getting headaches, which were excruciatingly painful—so bad that I was vomiting and couldn’t sleep. Six months later I visited the accident and emergency department because of these headaches and underwent a computed tomography scan because of a suspected brain tumour. I was very scared but agreed to have several medical students examine me to try to find an answer. They put me on steroids to calm things down, and I waited nine days as an inpatient to see a professor who immediately diagnosed Behçet’s syndrome.

    Receiving the diagnosis gave me an enormous sense of relief because somebody knew what it was. I started going to Bangor Community Hospital, but I never managed to see the same professor again, even though I attended his clinic. I saw a different junior doctor every time so I had to repeat my medical history with each one. I still had many of my symptoms because they kept changing the dose of my steroids to find the right balance. I was becoming depressed. I thought that now they knew what was wrong with me, surely they could make me better and put me back on track—but that didn’t seem to be happening. I started wondering if this was what the rest of my life would be like.

    The clinician’s perspective

    Behçet’s syndrome is an autoinflammatory multisystem disease, characterised by recurrent oral and genital ulcers, often with other clinical features such as sight threatening eye disease, rashes, headaches, and disabling fatigue. The syndrome is found more commonly in Mediterranean countries and the Far East, but many patients in the United Kingdom have this condition. It is often diagnosed late in the UK, and after diagnosis it can be challenging to treat.

    I have a large cohort of patients with Behçet’s syndrome, and Michael’s story is all too familiar. All patients have their own unique stories, but a common thread runs through them. The multisystem, variable, and often diffuse nature of Behçet’s syndrome can make it difficult to diagnose. Few doctors are aware of this condition, and the index of suspicion for diagnosing it is therefore low (box). The development of genital ulcers is particularly traumatic because they are not caused by infection. These ulcers naturally bring with them all kinds of concerns for the patient (and their family), often with associated recriminations that may only be resolved after attending a genitourinary medicine clinic, where infection is ruled out. This is especially worrying for families of children with the syndrome.

    Getting a diagnosis can be a huge relief, but that may just be the start of the journey. After the relief of finally finding a diagnosis, Michael was frustrated at having to repeat his story to many different junior doctors, who had little or no understanding of the disease. The UK Behçet’s Syndrome Society, which has access to good information and links to other patients with this condition, was a lifeline to Michael—as it is to many others in his situation. I was pleased to get the chance to see Michael and am delighted that he has benefited from this. Whenever possible, I ensure that my patients with this syndrome can see me, rather than another doctor, and I try to give them enough time to discuss their problems. It often seems that no one else will listen—other doctors tend to shun involvement because of the complexity of the disease. This puts a big demand on my services.

    It is especially frustrating to have effective drugs for severe Behçet’s syndrome (tumour necrosis factor α inhibitors), yet often have to battle with primary care trusts to secure funding for them. I am pleased that in Michael’s case (and so far for all my patients with this disease) persistent, sensible, and appropriate dialogue has enabled him to receive the right drug, which has produced excellent results. It has been a pleasure to see the great change in Michael’s condition, but he has—like many other patients with the syndrome—had a long and painful journey to get there.

    Robert J Moots r.j.moots{at}liv.ac.uk

    Index of suspicion

    A high index of suspicion for Behçet’s syndrome should be raised if the patient has two or three manifestations, such as:

    • Painful recurrent mouth ulcers and genital ulcers

    • Painful recurrent mouth ulcers and an inflamed eye

    • Painful recurrent mouth ulcers, genital ulcers, and an inflamed eye

    • Painful recurrent mouth ulcers, genital ulcers, and inflamed joints

    • Painful recurrent mouth ulcers, genital ulcers, and skin lesions

    • Inflamed eye(s) and inflamed joints, and skin lesions

    • Inflamed eye(s), thrombophlebitis, and skin lesions

    • Painful recurrent mouth ulcers, an inflamed eye, and a positive family history

    These are only examples, not definite indications, and many others could be listed. They are situations in which the diagnosis should be suspected and further advice sought

    I became depressed and started taking antidepressants at the age of 22 when my general practitioner told me that the job I was doing in a carpet warehouse was too physical and was probably making my condition worse. I thought my life had ended—I didn’t want to go out and face the world, and eventually I didn’t even see the point of getting out of bed in the morning. My fiancée and my family were all that kept me going through this time, and they tried endlessly to encourage and motivate me. They tried to stop me feeling sorry for myself but also helped me through my feelings of embarrassment at having depression. I don’t like to think what would have happened without them.

    It was one of my family who found the Behçet’s Syndrome Society—the UK support group for people with this illness. He printed off all the information they have and eventually I rang the helpline and spoke to someone else with the condition for the first time. This was more helpful than I could have imagined, and to know I was not alone was an incredible source of strength. It was through their quarterly newsletter that I learnt about the Behçet’s clinic at University Hospital Aintree, Liverpool, run by Professor Moots. I rang and made an appointment to see him.

    The treatment I received was very different from that I had received in Bangor. Professor Moots understood the illness, as did all the nurses, and they all took an interest in me. I tried several different drugs including azathioprine, which caused chest pains and breathing difficulties. In January 2006, I was started on tacrolimus, but this triggered an epileptic fit and had devastating effects on my personal life. At that time I had a good job as a financial adviser in a building society and had learnt to drive during the previous year. Suddenly my independence was taken away because I could no longer drive and had to rely on others for lifts.

    Later that same year, on holiday in Turkey with my fiancée, I had another fit. I was taken to intensive care where they suggested I needed a further computed tomography scan. I signed myself out thinking it would be best to do this back in the United Kingdom, but this was a very expensive hospital trip both in financial terms and in the way that it undermined my confidence and my fiancée’s. On my return home, I phoned the local hospital for an appointment and was told it would be six months before I could see a neurologist. Again, I used the services of the Behçet’s Syndrome Society and arranged a private appointment with a neurologist who specialises in Behçet’s syndrome in London—Dr Kidd. He diagnosed the epilepsy and gave me suitable treatment, which has meant that I haven’t had another incident, and in May 2007 I regained my driving licence.

    What worked and what didn’t work for me

    What has worked well
    • Attending the specialist clinic at Liverpool where the staff understood my condition and took an interest in my whole wellbeing

    • Infliximab has been life changing and has given me back a “normal” life free from constant headaches, lumps, ulcers, and fatigue—I can now enjoy life

    • The support I received from my fiancée, my family, and the Behçet’s Syndrome Society. Knowing I wasn’t on my own and having people I could rely on made all the difference

    What didn’t work so well
    • Having to change jobs twice because of my condition—once because the work was too physical and then because I had too much responsibility and couldn’t take time off work for medical reasons

    • Waiting so long for a diagnosis. This led to depression and the lowest point of my life

    • Behçet’s syndrome is rare, and many doctors do not know about it or understand it. They can be very patronising and don’t realise that patients with an illness of this kind have to read up about it and may even know more than they do about the condition

    It was obvious that tacrolimus wasn’t the right drug for me, so I tried two further drugs, which unfortunately did not improve my ever present symptoms. In June 2007, I became really ill—I was planning to get married a couple of months afterwards and wanted to be well and enjoy our big day. I was admitted to hospital by Professor Moots and given infliximab, which has changed my life and my outlook. When I was ill before, I would always blame the Behçet’s syndrome, but now I don’t just assume this because I generally feel so well. My symptoms are under control and my outlook is much more positive.

    Where I am now?

    With the help of my consultant and my family, I am now happily married with a job I enjoy. We would like to start a family but need medical advice about this. I feel much better and don’t go to bed dreading what tomorrow will bring or wondering if we dare go abroad again without a chaperone. My worry is what will happen if infliximab stops working, but I hope there will be alternatives by then.

    Useful resources for patients and healthcare professionals

    Notes

    Cite this as: BMJ 2009;339:b3876

    Footnotes

    • This is one of a series of occasional articles by patients about their experiences that offer lessons to doctors. The BMJ welcomes contributions to the series. Please contact Peter Lapsley (plapsley{at}bmj.com) for guidance.

    • Contributors: MH wrote the main text of the article, and RJM wrote the clinician’s perspective box.

    • Competing interests: None declared.

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

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