Pitfalls in the Diagnosis of Behçet’s Disease: Interpreting the Clues

Kenneth T. Calamia, MD

Division of Rheumatology
Department of Medicine
Mayo Clinic College of Medicine and Science
Division of Rheumatology
Department of Medicine
Mayo Clinic Florida
Jacksonville, Florida

Kenneth T. Calamia, MD, has disclosed that he has received fees for non-CME/CE services from Celgene.

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Released: January 28, 2020

The diagnosis of Behçet’s disease can be challenging. The disorder is uncommon, and there is no absolute diagnostic test. Diagnostic criteria, such as the International Study Group criteria or the International Criteria for Behcet’s Disease, can aid in the diagnosis, but ultimately the disease is diagnosed clinically based on provider judgment following a careful assessment of the patient’s symptoms.

Symptoms used to diagnose Behcet’s disease must not be explained by other causes. In some cases, distinctive features such as lesions in the deep brain, recurrent thrombophlebitis despite anticoagulation, systemic or pulmonary artery aneurysms, or bilateral panuveitis may be present and support a diagnosis of Behçet’s disease.

By contrast, features that are not at all typical of Behçet’s, such as immunodeficiency, may point away from this disease. Severe symptoms that cannot be explained despite their evaluation—such as dominant headache, abdominal pain, or widespread musculoskeletal pain—may represent a different disorder and should not be attributed to Behçet’s disease. This applies to patients only suspected of having Behçet’s disease and to patients with established disease.

Oral Ulcers
Oral ulcers are a key feature for the diagnosis of Behçet’s disease, but they are found in other disorders as well. In Behçet’s disease, ulcers consist of recurring aphthous stomatitis, also known as canker sores. The clinician must examine the ulcers or have photographs taken of them to be certain they are typical aphthous lesions.

By contrast, diffuse mucositis, bullous lesions, or ulcers that persist for more than 6 weeks normally do not occur in patients with Behçet’s disease.

The location of the lesions in the mouth may also be helpful in making the diagnosis. In patients with Behçet’s disease, oral ulcers typically occur on the buccal mucosa, the soft palate, or sides of the tongue and much less typically on the keratinized dorsum of the tongue or on the hard palate, gingiva, or lips.

Before establishing a diagnosis of Behçet’s disease, other disorders associated with aphthous ulcers must be excluded. These include a deficiency of B vitamins, folate, or zinc; hematologic disorders; celiac disease; or inflammatory bowel disease.

Do I biopsy oral ulcers? Biopsies of oral ulcers are nonspecific in Behçet’s disease, but they can be very helpful to identify alternate diagnoses, such as erosive lichen planus or mucous membrane pemphigoid.

Genital Ulcers
Genital ulcers are common in patients with Behçet disease and can support the diagnosis. These occur on the scrotum or shaft of the penis in men and affect the vulva in women. Scarring is common and is good evidence that ulcers were present.

Patients with frequent episodes of recurrent aphthous stomatitis may also have genital ulcers or a disorder known as complex aphthosis, which is distinct from Behçet’s disease. However, genital ulcers alone are insufficient for a diagnosis of Behçet’s disease without other supporting clinical features.

The pathergy test is underutilized in patients suspected of having Behçet’s disease. In my experience, approximately one third of patients diagnosed clinically had a positive pathergy test.

Testing for pathergy consists of penetrating the skin of the volar forearm at 3 sites using a 20-gauge needle after preparing the area with alcohol. Any red bump or nodule that presents at the site after 48 hours is a positive result.

A multidisciplinary approach to the diagnosis of Behçet’s disease is often required, just as it is for the ideal management of patients. A dermatologist, ophthalmologist, gastroenterologist, gynecologist, neurologist, and rheumatologist must communicate with each other and work together to achieve a complete assessment and make an accurate diagnosis.

Your thoughts?
What are your challenges in the diagnosis of patients suspected of Behçet’s disease? Please join the discussion by leaving a comment below.

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