Behçet's disease

Behçet's disease belongs to the vasculitis family: the body's own immune system inflames its blood vessels, and vessels of any size can be affected. The eye inflammation and most of its other features flow from that vessel inflammation, though the ulcers and some of the skin lesions show inflammation without inflamed vessels. It is not an infection, and the genital ulcers are not contagious.

The cause has never been fully worked out. The best current explanation pairs a genetic susceptibility, the gene HLA-B51 more than any other, with an immune response that something in the environment, or a microbe, may have set off. There is no straightforward inheritance: it is not necessarily passed down, though it can sometimes run in families.

The usual age of onset is early adulthood, the twenties and thirties most of all, though it can also begin in childhood. Men and women are affected equally, though the condition tends to run a more severe course in men and in those whose symptoms began young. From the Mediterranean through the Middle East to East Asia runs the historic Silk Road, and families with roots along it see the condition more often, although no region is free of it.

The condition can show itself in several places, at once or in turn. Its features can include:

• Mouth ulcers that keep coming back, in almost everyone, the feature the diagnosis rests on
• Ulcers on the genitals
• Inflammation in the eye, in about seven people in ten, which needs an eye casualty or urgent eye clinic the same day
• Skin changes
• Painful, swollen joints, in about half
• Headaches, which are common during flares
• The gut, the blood vessels or the nervous system, less commonly

Behçet's has no confirmatory test of its own. The diagnosis rests on how the symptoms have behaved over time, on what examination shows, and on investigations that support the picture while ruling out other explanations. Since the features can arrive at different times rather than together, the picture is sometimes clearer in hindsight than at the first visit, which is why specialist assessment is so useful in pulling it together.

A painful joint can be checked for inflammation with ultrasound. Point-of-care ultrasound is part of the consultation with Dr Borukhson; there is more on the ultrasound clinic page.

The goals of treatment are to subdue the inflammation, to relieve the ulcers, joint pain and other symptoms, and to shield any organ at risk. For the mouth and genital ulcers and the skin lesions, a steroid mouthwash, paste or cream is usually the first treatment, with colchicine, a tablet that damps down inflammation, where they keep coming back; colchicine is also the first choice for the joint symptoms. Where a joint flare has not settled with colchicine, the next step is a brief course of prednisolone tablets or a single steroid injection into the muscle, kept as low and as short as it can be; when the eyes or another organ are involved, the stronger options come in where they are needed: a high dose of steroid, by tablet or through a drip, to bring the inflammation down quickly and then tapered, alongside an immunosuppressant such as azathioprine or a biological medicine (the anti-TNF agents infliximab and adalimumab, for example). Being stronger, those treatments call for monitoring blood tests and can make infection likelier, so a specialist supervises them and goes through them with you in full.

The parts of the body involved decide what is prescribed, and the prescription is adjusted as the condition changes over time. Since more than one system can be affected, other specialists often have a hand in the care. You and Dr Borukhson settle the plan together.

Because it can involve so much of the body, Behçet's is seldom a one-specialist condition: the mouth, eyes, skin and joints most often, and in fewer people the gut, the blood vessels or the nervous system. Dr Borukhson practises within a world-renowned tertiary centre, with ready access to consultant colleagues in the other specialties this condition may call on. Where it helps, she can bring those specialists in directly, and particularly complex cases can go to a multidisciplinary team meeting (MDT) with minimal delay. Whenever more than one kind of expertise is needed, the strands of your care can be drawn together and decisions reached promptly. NHS England also commissions three Behçet's Centres of Excellence, in London, Birmingham and Liverpool, which confirm the diagnosis, run a one-stop clinic and share care with local teams; a specialist can refer you to one.

Living with Behçet's means living with a condition that comes and goes: flares, then quieter spells. Most people, once the right plan is in place, keep it well controlled and lead a full life.

Some everyday habits help:

• Write things down: the dates of ulcers, eye changes and skin or joint flares, because a record shows patterns and triggers that memory alone misses.
• Follow-up visits and blood tests are not optional, and on immunosuppressant or biological treatment they matter more than ever.
• Have your eyes checked when they are due: the eye is examined at every review, because eye disease costs sight when it is missed.
• Keep moving within what is comfortable: exercise is part of looking after yourself with Behçet's, and it protects the bones on steroid treatment.
• Look after your teeth and gums: poor dental hygiene makes the mouth ulcers worse.
• Stopping smoking is encouraged, though the mouth ulcers can briefly get worse when you stop.

Tiredness, and the uncertainty about when the next flare will come, can grind you down; telling your team how you are feeling counts, and support for the emotional side is part of good care.

Pregnancy is something to plan together with your team. For most women Behçet's settles during pregnancy rather than flaring, most of its medicines can be continued, and the few that cannot, mycophenolate and thalidomide among them, are withdrawn before a pregnancy is attempted; our guide to arthritis, autoimmune conditions and pregnancy covers the rest.

With Behçet's, a few of its features cannot wait for a routine appointment: they need help the same day, or in some cases straight away, since a quick response helps to protect sight and the other organs.

Treat any of these as a 999 or A&E emergency: call 999 and do not drive yourself to A&E.

• Severe illness with suspected sepsis: a high fever with shaking, confusion, rapid breathing, or feeling dramatically worse over hours
• With a fever or feeling unwell, a rash that does not fade when you press it, a stiff neck with eyes that cannot bear bright light, or skin, lips or tongue turning blue, grey, pale or blotchy, since these can be signs of meningitis or sepsis; on black or brown skin the rash and the change of colour may be easier to see on the palms of the hands or the soles of the feet
• Chest pain that is crushing, tight or like a pressure, that spreads to an arm, the jaw, the neck, the stomach or the back, that comes with breathlessness, sweating, feeling sick or feeling light-headed, or that came on suddenly and does not go away
• Breathlessness that is severe, with gasping, choking or no breath to get words out; coughing up blood; or chest pain that catches as you breathe in, since Behçet's can inflame the arteries of the lungs or form clots in the veins, and a clot can travel to the lungs
• Palpitations happening now that do not stop, or that come with chest pain, breathlessness, feeling faint or fainting, since a heart whose muscle or rhythm is affected has to be checked at once
• A blackout, since a clot that has travelled to the lungs, or bleeding from a weakened artery, can be behind it
• Sudden weakness or numbness on one side, a drooping face or difficulty speaking, a sudden severe headache, sudden confusion or a seizure, or sudden loss of vision, any of which can be a stroke, even if it stops after a short time, and in Behçet's can also come from inflammation of the brain or a clot in one of the veins that drain it
• A severe headache that has built up over a few days, double vision, a sudden loss of hearing, loss of balance, a change in behaviour or personality, or weakness on one or both sides of the body, since in Behçet's these can mean the brain is inflamed or a vein draining it is blocked
• An eye that suddenly and completely loses its sight
• Sudden severe pain in the abdomen or back, since ulcers in the gut can perforate, and an artery weakened by inflammation can bulge and burst
• Lips, mouth, throat or tongue that suddenly swell, a throat that feels tight, very fast breathing or a struggle to breathe or to swallow, skin, tongue or lips turning blue, grey or pale (on black or brown skin this may be easier to see on the palms of the hands or the soles of the feet), becoming suddenly very confused, drowsy or dizzy, or fainting and not being able to be woken, since this can be a severe allergic reaction, anaphylaxis, which can follow a dose of any medicine
• Vomiting blood, or bleeding from the back passage that is heavy or will not stop, most of all with faintness, confusion or pain in the abdomen, or vomit that is black or dark brown, since ulcers in the gut can bleed and a stomach ulcer on prednisolone can bleed
• Thoughts of harming yourself or ending your life, which steroids can bring on

Any of these needs an assessment that is urgent, on the same day, from your GP, your rheumatology team or NHS 111:

• A fever, or feeling generally unwell, on immunosuppressant, biologic or steroid treatment, since an infection has to be treated early
• A joint that is hot and swollen, with a fever or feeling unwell, since an infected joint has to be ruled out at once, at A&E or through NHS 111
• A joint that has become hot and very swollen suddenly, or is worsening quickly, even without a fever, since an infected joint does not always announce itself with one; a joint that will take no weight at all, or that cannot be moved, is a 999 or A&E emergency, whether or not there is a fever
• New chest pain, new palpitations, or breathlessness that is new or getting worse, since Behçet's can reach the heart and the blood vessels of the lungs; palpitations happening now that do not stop, or that come with chest pain, breathlessness, feeling faint or fainting, belong to the first list; in pregnancy, breathlessness that comes on suddenly, or when you lie down, or with dizziness, is for your midwife or maternity unit straight away, as the pregnancy line below says
• A new red, painful eye, or sight that has blurred, dimmed or changed, which needs an eye casualty or urgent eye clinic the same day, as does an eye that light hurts, and at once if the change in sight was sudden, since eye inflammation is common in Behçet's and, left untreated, can cost sight; in pregnancy, any change in sight, blurring or flashing lights among them, is also for your midwife or maternity unit straight away, as the pregnancy line below says, since it can be a sign of pre-eclampsia
• A calf that is swollen, hot or painful, or a limb that is painful, swollen or discoloured, which can mean a clot, one of the ways Behçet's shows itself; with breathlessness, chest pain, palpitations or feeling faint, this is a 999 or A&E emergency: call 999 and do not drive yourself to A&E
• A headache that is new and persistent, or that keeps getting worse, with none of the signs above, since headaches are common during flares but a persistent or worsening one has to be checked for involvement of the brain or of the veins that drain it, where rising pressure can threaten sight
• Black or dark red stools, or bloody diarrhoea, since ulcers in the gut can bleed
• A marked change in mood or behaviour, confusion, or seeing or hearing things that are not there, on steroid treatment, since prednisolone can do this, the more so the higher the dose; confusion that comes on suddenly is a 999 or A&E emergency, as the first list says
• Unusual thirst or hunger, passing urine more often, or feeling sleepy or confused, on steroids, or swelling of the arms or legs, bruising or bleeding that is not normal, severe stomach pain, severe back pain, a severe upset stomach, being sick, or very bad dizziness, since each can be a steroid effect that needs checking without delay; pain in the abdomen or back that comes on suddenly and severely is a 999 or A&E emergency, as the first list says; in pregnancy, bleeding that is not normal, and stomach pain that is severe, belong to the pregnancy line below
• Contact with measles, chickenpox or shingles, since these infections can be severe on steroids and a medicine to protect you may be needed
• Being near someone with measles, chickenpox or shingles, while you take a medicine that weakens the immune system, since measles and chickenpox can be dangerous when the immune system is weakened, and you can catch chickenpox from someone with shingles if you have never had chickenpox; NHS 111 can tell you what to do that day
• While you take colchicine: diarrhoea, feeling or being sick, or pain in the stomach; a high temperature, bruising, or bleeding that goes on for a long time after an injury; muscle pain or weakness, or dark red or brown pee; or pain, tingling, loss of feeling or weakness, since these can mean that too much of the medicine has built up in the body or that it is affecting the bone marrow, the muscles and kidneys or the nerves; NHS 111 can tell you what to do that day, and a swollen throat or tongue, or difficulty breathing, is a 999 or A&E emergency: call 999 and do not drive yourself to A&E
• In pregnancy, any bleeding, stomach pain that is severe or does not go away after a rest, reduced baby movements, a severe headache or visual disturbance, sudden swelling of the face, hands, legs or feet, or breathlessness that comes on suddenly, or when you lie down, or with dizziness: contact your midwife or maternity unit straight away, whatever the time; bleeding that is heavy, or that comes with severe pain in the tummy, pain in the shoulder, or feeling sick, faint or dizzy, or passing out, is a 999 or A&E emergency: call 999 and do not drive yourself to A&E; pain in the abdomen or back that comes on suddenly and severely is a 999 or A&E emergency, as the first list says
• A high temperature in pregnancy, whatever medicines you are taking, since a fever can be a sign of an infection that needs checking; your midwife or maternity unit can advise

Mouth ulcers, joint aches or skin lesions that are slowly increasing, with none of the warning signs above, are matters for a routine review, where the plan is adjusted. If you cannot tell how urgent something is, asking is never a mistake.

Because Behçet's is uncommon and takes many forms, a correct diagnosis and a plan made to fit you and reviewed regularly matter greatly, and never more so than when the eyes or other organs are involved. When recurrent mouth ulcers come with other symptoms that have gone unexplained, that is the moment to ask for a specialist review.

How do you reach a diagnosis of Behçet's disease?

No single test gives the answer. What counts is the pattern of features over time, weighed alongside a careful examination and the investigations that back up the picture or point elsewhere. Because the features do not always arrive together, the diagnosis can build gradually. Should your joints be involved, they can be checked for inflammation at the same time, adding one more piece to the picture: point-of-care ultrasound is part of the consultation with Dr Borukhson.

Can Behçet's disease be cured, and how does it behave over the years?

There is no cure and it stays with you, yet for most people it is very manageable. Symptoms often come as a flare followed by a settled spell. Treatment is aimed at keeping the inflammation in check, easing the symptoms and guarding any organ that is involved, which matters most when the eyes, the nervous system or the blood vessels are affected. With a plan suited to them, and reviews at regular intervals, most people keep it well controlled and everyday life goes on.

Why do recurring mouth ulcers matter so much in Behçet's?

Most of us get the occasional mouth ulcer, and it is usually harmless. What marks out Behçet's is ulcers that come back time after time, which may come alongside other features such as ulcers on the genitals, inflamed eyes, skin changes or painful joints. The combination is what calls for assessment, rather than the ulcers by themselves. Frequent mouth ulcers together with other symptoms that have no explanation deserve a specialist's opinion.

Which Behçet's symptoms need urgent help?

An eye that has suddenly and completely lost its sight is a 999 or A&E emergency. The signs of a stroke (sudden weakness or numbness on one side, a drooping face, difficulty speaking, a sudden severe headache, sudden confusion or a seizure, or sudden loss of vision) are a 999 or A&E emergency too, even if they stop after a short time, and so, in Behçet's, are a headache that has built over several days, seeing double, a sudden loss of hearing, losing your balance, a change in behaviour or personality, or weakness down one or both sides, which can mean the brain or the veins that drain it are involved; the same goes for chest pain that is crushing, tight or like a pressure, that spreads to an arm, the jaw, the neck, the stomach or the back, that comes with breathlessness, sweating, feeling sick or feeling light-headed, or that came on suddenly and does not go away, chest pain that catches as you breathe in, coughing up blood, breathlessness so severe that you gasp or choke, or cannot speak, palpitations you are having now that will not settle, or that arrive along with chest pain, breathlessness, faintness or a faint at the same time, a blackout, sudden severe pain in the abdomen or back, vomiting blood or vomit that is black or dark brown, or heavy bleeding from the back passage, or bleeding there that will not stop, especially if faintness, confusion or pain comes with it, a painful, swollen or discoloured limb with breathlessness, chest pain, palpitations or faintness, and a high fever with shaking, confusion, rapid breathing, or feeling dramatically worse over hours, which can be sepsis, and, in pregnancy, bleeding that is heavy, or that comes with severe pain in the tummy, pain in the shoulder, or feeling sick, faint or dizzy, or passing out. Call 999 and do not drive yourself to A&E. A new eye symptom of any kind, pain, redness, blurring or sensitivity to light, needs an eye casualty or urgent eye clinic that same day, and at once if your sight changed suddenly, because inflammation in the eye has to be treated quickly if sight is to be protected; in pregnancy, any change in sight, blurring or flashing lights among them, is also for your midwife or maternity unit straight away, since it can be a sign of pre-eclampsia. An assessment the same day, from your GP, your rheumatology team or NHS 111, is the answer to a painful, swollen or discoloured limb, which can mean a clot. The same day is also right for chest pain, palpitations or breathlessness that is new or worsening but short of those 999 or A&E emergencies (in pregnancy, breathlessness that comes on suddenly, or when you lie down, or with dizziness, is for your midwife or maternity unit straight away), for a headache that is new and persistent, or that keeps getting worse, for a joint that is hot and swollen (with a fever or feeling unwell, that is one for A&E or NHS 111 rather than the GP, and a joint that will take no weight at all, or that cannot be moved, is a 999 or A&E emergency, whether or not there is a fever), for black or dark red stools or bloody diarrhoea, and for a fever or feeling unwell while you take a medicine that lowers your defences against infection. In pregnancy, any other bleeding, stomach pain that is severe or does not go away after a rest, reduced baby movements, a severe headache or visual disturbance, sudden swelling of the face, hands, legs or feet, or breathlessness that comes on suddenly, or when you lie down, or with dizziness, means contacting your midwife or maternity unit straight away; a high temperature in pregnancy, whatever medicines you are taking, needs checking the same day too, and your midwife or maternity unit can advise. Every sign is set out in full in the two lists under When to seek help, the signs of meningitis, the steroid signs, a severe allergic reaction to a medicine and thoughts of self-harm among them.

Am I likely to need other specialists as well as a rheumatologist?

Often, yes. Behçet's most often involves the mouth, eyes, skin and joints; the gut, blood vessels and nervous system are affected in fewer people, and each may call for its own expert. Dr Borukhson works within a tertiary centre alongside consultant colleagues in those specialties, so where that helps she can ask one of them to see you, or have a complicated case discussed by the relevant specialists together, and the different parts of your treatment are planned jointly.