Behçet Disease Presents Complex Diagnostic Challenge

As a multisystem inflammatory disease, Behçet disease has a constellation of symptoms ranging from oral and genital ulcers to gastrointestinal and vascular involvement that makes it particularly challenging to diagnose, explained Delfin Santos, MD, at the virtual Interdisciplinary Autoimmune Summit 2020 on July 12.

Delfin Santos, MD, is a rheumatologist from Ascension Michigan Providence Hospital and the Rochester Rheumatology Research Center in Rochester, Michigan.

Behçet disease, named for the Turkish dermatologist who first identified it, is far more common in Turkey, where the prevalence averages 420 cases per 100,000 population, than in the United States, with a prevalence of just more than 5 cases per 100,000.

Along with its rarity in this country, complicating factors in identifying Behçet disease include its multisystem inflammatory impacts, which can include vascular, neurological, gastroenterological, and musculoskeletal involvement. There are no serological tests to assist in diagnosis, and many of its symptoms are indicative of other diseases ranging from Crohn disease to systemic lupus erythematosus to rheumatoid arthritis.

Dr Santos explained that the disease has a classic triad of symptoms: recurrent aphthous oral ulcers, which occur in 98% of patients; genital ulcers, with occur in 80% of patients; and ocular inflammation, seen in 50% of patients with Behçet disease. Skin lesions are also seen in about 80% of patients, and joint involvement occurs in approximately 45% of patients. Behçet disease is also considered a variable vasculitis, which can cause inflammation of arteries and veins, though vascular involvement is less common, occurring in some 16% of patients.

The symptoms of Behçet disease appear to vary based on the patient’s location. In the United States, for example, gastrointestinal symptoms such as gastric ulcers occur in up to 25% of patients, but are uncommon in Turkey and the Middle East. Patients in Asia also show less neurological involvement than patients in the United States and Europe.

More women than men are diagnosed with Behçet disease in the United States, while in Turkey, approximately 40% of patients are men. Patients in the United States also have a longer duration of disease, averaging 10.7 years vs 6.9 years for patients in Turkey. “This is a disease that can just burn out over time,” Dr Santos explained.

Before it burns out, however, Behçet disease can present a significant burden to patients, including on their quality of life. Santos noted that the variety of symptoms, including genital ulcers and skin lesions, can cause patients to experience low self-esteem, anxiety, and disruption of their social and sexual relationships. The recurrent aphthous oral ulcers are often very painful and even debilitating. Uveitis, which is a common symptom, can ultimately cause blindness.

Behçet disease can also be a cause of mortality, particularly for patients with neurological and vascular involvement. Santos noted that Behçet disease can cause deep vein thrombosis (DVT), which is often treated with anticoagulants.

However, he explained, “In patients with Behçet disease, DVT clots often don’t embolize; they tend to adhere to the blood vessel. I will only allow my patients with Behçet disease to be given anticoagulants if they have a CT scan first that shows no signs of aneurysms.” The immediate administration of anticoagulants can cause hemorrhaging due to the disease’s effects on the vascular system.

In 2019, the US Food and Drug Administration approved the first drug for the treatment of Behçet disease, apremilast, an oral selective phosphodiesterase 4 inhibitor. Dr Santos also noted that newer treatments for uveitis have been introduced that help treat inflammation and help prevent blindness.

But accurately diagnosing Behçet disease remains a challenge for physicians, Dr Santos said. “This disease is not commonly known in the United States, and it is a very complex diagnosis that relies on the exclusion of other diseases.”

—Rebecca Mashaw

Reference:

Santos D. Exploring the clinical understanding of Behçet disease. Talk presented at: Interdisciplinary Autoimmune Summit 2020; July 12, 2020; virtual.