By the time Richard West was diagnosed with the rare inflammatory disease known as Behçet’s in 1995, he had painful infected leg ulcers, genital ulcers and constant headaches; joint pain prevented him from taking his children swimming on Sunday mornings; mouth ulcers limited his diet to soup, ice cream and mashed bananas.
A diagnosis was welcome, but it did not mean his struggle with symptoms would end.
“I saw so many different doctors, and each would prescribe different things,” West said. “Most doctors have never seen this illness and aren’t familiar with what medications they should or could give you.”
West’s story is not unique. A chronic disease involving inflammation of blood vessels, Behçet’s is so rare and mysterious that there is no standard of care .
That’s understandable. After all, it’s difficult to identify a standard when nothing seems to work very well, as suggested by a recent study published in Clinical Rheumatology. The researchers analyzed medical records of over 250 patients with Behçet’s over an average of four years and found that patients had symptoms in more than 67 percent of doctor visits — meaning remission is hard to come by .
While the symptoms of Behçet’s can be quite different with each patient, the most common include ulcers affecting the mouth and genitals, skin sores, inflammation of the eye and arthritis. Because the symptoms are often so painful, the lack of effective treatments can have a devastating effect on patients.
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“Over the course of a five-year period, I couldn’t work, so my wife had to go back to work, and it caused a tremendous strain in our relationship,” West said. “We lost our house and our life savings. Our marriage disintegrated.”
Despite the impact on patients’ lives, little is known about the disease. “It hasn’t received the same degree of interest because of the tiny number of patients,” Chris Phillips, director of Behçet’s International, said.
Fewer than 8 out of every 100,000 people in North America and Western Europe are diagnosed with Behçet’s disease. In Asia and North Africa, that number rises significantly, to about 420. As such, Behçet’s is often referred to as Silk Road disease.
Researchers believe that both genetic and environmental factors contribute to the disease, but they have not pinpointed exact causes.
“We would like to know what the source of the inflammation is,” Phillips said. “Until then, we don’t know how to turn it off. And that seems to be a long way off.” And with few patients to participate in clinical studies, finding solutions becomes even more challenging.
In the meantime, doctors have focused on treating symptoms with creams and gels applied to the sores to relieve pain, and oral or injectable medicines to reduce inflammation. Immunosuppressive therapies such as TNF inhibitors can help alleviate mouth ulcers in some patients, but they often stop working and can have been linked in some cases to side effects such as serious infections and an increased risk of cancer.
For West, finding the right combination of therapies to reduce his symptoms was a trial-and-error process. Eventually, his doctors found a medication that helped relieve his leg ulcers, but not his headaches. His neurologist had to prescribe another therapy for that.
“Finding something that would get rid of all the symptoms would be brilliant,” West said.
To that end, researchers are looking for therapies that better address the underlying problem. This search has led some to look at therapies that tweak the immune system rather than shutting it down broadly as immunosuppressive therapies do. So far, clinical trials have been promising, and more results are on the way.
For his part, West remains optimistic despite his years of struggles. In 2012, three clinicians and the Behçet’s Syndrome Society received £20 million in National Health System funding to establish three Specialist Multidisciplinary Centers for Behçet’s in England. “They have been running now for nearly three years and are transforming the care of English patients with the disease,” he said. “I’m quite hopeful that things will continue to progress.”