Behçet's disease

Behçet's disease is a rare inflammatory condition in which the immune system attacks the walls of a person's own blood vessels for no apparent reason. Blood vessels are everywhere, so the signs turn up all over the body: mouth ulcers now, an inflamed eye a month later, a swollen joint after that. Because the picture is so scattered, people spend years moving between the dentist, the dermatologist and the gynaecologist while nobody puts the pieces together. The disease is not contagious. It cannot be cured outright, but medication can settle the flares and prevent the worst outcomes: loss of sight and damage to the large vessels.

What happens inside the vessels

The exact cause is unknown. What is clear is that the wall of the vessel becomes inflamed, and that this affects veins as well as arteries, of any size. That combination is unusual and sets the disease apart from most look-alikes. An inherited susceptibility plays a part, and something in the environment appears to trigger the first attack. The condition is far more common in people whose roots lie along the old Silk Road, from the Mediterranean and Turkey through the Middle East to China and Japan, though anyone can develop it. It usually starts between the ages of twenty and forty, and it runs a heavier course in young men.

The course comes in waves: a flare lasts days or weeks, then things quieten down, sometimes for months. As the years pass, the disease loses much of its activity in many people.

The ulcers that keep coming back

Almost everyone with the condition gets mouth ulcers, and they are usually the first sign of all, sometimes years ahead of everything else.

• in the mouth: on the tongue, lips, gums and inner cheeks; painful, often several at once, healing within one to three weeks without scarring and then returning;
• on the genitals: in men most often on the scrotum, in women on the vulva and inside the vagina; they take longer to heal and usually leave a small scar.

These ulcers are not infectious and cannot be passed to a partner. What separates them from ordinary mouth ulcers is not the look of any single sore but their persistence: three or more episodes in a year, especially alongside something from the list below, points to a whole-body disease rather than a vitamin shortage.

The eyes: what must not be missed

Inflammation of the inner coats of the eye, known as uveitis, is the most dangerous feature in the long run. It affects around half of those with the disease, usually both eyes, and it tends to recur. Warning signs are redness, pain, discomfort in bright light, floating specks, a mist over the vision and a drop in sharpness. The treacherous part is that inflammation deep inside the eye may barely hurt at all, so failing vision is the only clue. Every untreated attack leaves a mark on the retina, and within a few years those marks add up to permanent blindness. Any eye complaint in someone with recurrent mouth ulcers therefore deserves an eye specialist within days.

Skin, joints, bowel

• erythema nodosum: tender red lumps on the shins that leave a dark patch behind;
• spots that look like acne but appear in unusual places, such as the back, the legs or the buttocks;
• painful red cords running along a surface vein;
• unusually reactive skin: a pinprick from a needle raises a small pustule a day or two later, a trait that is even used as a test;
• pain, swelling and stiffness in knees, ankles, wrists and the small joints of the hands; joints are involved in about half of cases but, unlike rheumatoid arthritis, they are hardly ever destroyed;
• inflammation in the bowel: abdominal pain, diarrhoea sometimes with blood, nausea and loss of appetite; the picture closely resembles Crohn's disease and telling them apart is difficult.

One more very common complaint is a draining tiredness that sleep does not repair and that gets in the way of work even between flares. It tends to be blamed on temperament, when in fact it is as much a part of the disease as the ulcers.

When large vessels and nerves are involved

This part is uncommon, but it is what decides the outlook.

• Clots in the veins. Most often in the deep veins of the leg: pain and swelling of the calf, warm reddish skin. Here the clot is stuck to an inflamed wall and breaks free less often, but treating it with blood thinners alone achieves nothing; the inflammation has to be put out.
• Clotting in the veins of the brain. A headache that builds over several days and does not yield to the usual tablets, double vision, seizures, weakness in an arm or a leg.
• An aneurysm, a bulge in a thinned artery wall. The most dangerous ones sit in the lung arteries: coughing up blood in someone with this disease calls for immediate investigation, even if the amount is small. A rupture causes sudden savage pain in the chest, abdomen or back.
• Inflammation of the brain tissue itself. Over a few days there is worsening headache, unsteadiness, slurred speech, weakness down one side and changes in behaviour.

An important detail for anyone already on treatment: blood thinners are hazardous when an aneurysm has not been ruled out, so the vessels are imaged before such drugs are started.

Signs that need urgent help

Call the emergency services or go straight to the emergency department if any of the following appear:

• sudden loss of vision, pain in the eye, a curtain or flashes across the sight;
• a sudden severe headache, seizures, slurred speech, weakness or numbness down one side;
• coughing up blood, breathlessness, chest pain;
• sudden savage pain in the abdomen, back or chest, dizziness, fainting;
• pain and swelling in one leg, especially with redness and heat of the skin;
• black tarry stools, blood in the stool, persistent vomiting;
• a high temperature with shivering in anyone taking medicines that lower immunity.

How the diagnosis is reached

There is no test that confirms Behçet's disease. The diagnosis is assembled from the story: how many times a year mouth ulcers have appeared, whether there have been genital ulcers, eye inflammation, the typical skin lesions, or a skin reaction to a needle. Blood and urine tests, ultrasound, scans and sometimes a biopsy are not there to confirm anything but to rule other things out: infections, inflammatory bowel disease, other forms of vasculitis. Several specialists are usually involved, including a rheumatologist, an eye specialist and a dermatologist, and where necessary a neurologist and a gastroenterologist.

One simple habit shortens the road considerably: photograph the ulcers and the rashes and write down the dates of the flares. The doctor almost never sees the disease at its height; they see a person during a quiet spell and have to take the account on trust.

What keeps the disease in check

Treatment is matched to whatever is affected in each person and shifts as the disease changes its face.

• preparations applied to the lining of the mouth and to the skin, such as steroid ointments, gels, mouthwashes and eye drops, for ulcers and mild skin problems;
• colchicine tablets, which noticeably reduce ulcers, erythema nodosum and joint pain;
• glucocorticoids by mouth or by drip: the fast way to put out a heavy flare, but not for years of continuous use because of the side effects;
• immunosuppressants: the mainstay when the eyes, the vessels or the nervous system are involved; they require regular blood and liver monitoring;
• biological therapy, drugs that selectively block the messengers of inflammation; these are kept for severe uveitis and for stubborn disease when earlier steps have failed;
• painkillers for joint pain; headaches are managed along the same lines as migraine.

Pregnancy is discussed in advance: fertility is usually unaffected, but some of the drugs are incompatible with pregnancy and call for reliable contraception, and the switch is planned before conception rather than after. One more thing: the commonest reason for a severe flare is stopping treatment on your own once you feel better.

Online consultation

In an online consultation the doctor goes through your history by date, links up complaints that seemed unrelated, explains which specialists to see and in what order, which tests are needed to exclude the more ordinary causes of ulcers and rashes, and points out the signs that should not wait for an appointment slot.

This material is for information only and does not replace medical advice.