What is the Criteria for Diagnosing Beçhet's disease?

Patient Presentation
An 8-year-old male came to clinic with an infected scratch/abrasion on his right arm caused by a stick that he had received the night before while playing in a wooded area. The wound had been cleaned by his mother but in the morning was red and swollen without discharge. It was mildly tender. He had no fever. The past medical history revealed that he had Beçhet’s disease and was immune suppressed because of his treatment. He was originally diagnosed after having oral and genital ulcers, and uveitis. His immunizations were current. The family history was positive for rheumatoid arthritis. The review of systems was otherwise negative.

The pertinent physical exam showed a healthy appearing male with normal growth parameters. He was afebrile. An 8 cm linear abrasion was seen on the dorsal surface of the upper forearm near the elbow. It was mildly edematous with .75 cm erythema surrounding the lesion. The lesion appeared clean without retained foreign material or discharge. There was full range of motion in the elbow and forearm. There was no axillary lymphadenopathy. The diagnosis of mild cellulitis in an immunocompromised patient was made. The area of erythema was marked with a pen. The patient and family were instructed to keep the wound clean and dry and apply warm packs for comfort. Oral cephalexin was also prescribed. Instructions to monitor the lesion closely were made and when to call the clinic were given. The treating physician also sent a message by the electronic health record to his rheumatologist so she would also be aware. The patient’s clinical course the next day showed that the edema and erythema were markedly improved with regression of both and he had almost no pain either.

Discussion
Beçhet’s disease (BD) is a multisystem vasculitis named for the Turkish dermatologist, Hulusi Beçhet. It has a prevalance in one study of 5.2-7.1 per 100,000 adults. It is more common in males than females but it depends on the cohort studied and there is variation among different ancestral groups.

Venous vasculitis usually causes thrombotic events whereas arterial vasculitis causes aneurysms and thrombosis. Involvement of the central nervous system vasculature can be a major problem. Central venous thrombosis can cause isolated intracranial hypertension but also aphasia, hemiparesis and seizures. Pulmonary aneurysms are the leading cause of death in adults. Unlike many other autoimmune diseases BD usually does not affect the kidney. Gastrointestinal disease may be seen such as diarrhea and abdominal pain. Nonerosive arthritis particularly of the knees is also seen.

The actual cause is unknown but it is associated with several genetic factors including HLA-B5.

As this is a syndrome there is no specific testing but other tests are done to exclude other diagnoses. ESR and C-reactive protein may be slightly elevated. Anti-nuclear antibodies, antineutrophil cytoplasmic antibodies and rheumatoid factor are usually negative. Treatment depends on the organ involvement including topical treatment for ulcers, and antiinflammatory medications for more serious disease. Azothioprine is often used for uveitis and cholchicine for nodules of the skin. CNS involvement may include multimodal treatment with combinations of azothioprine, cyclophphamide, interferon-alpha, mexthotrexate, steroids, and tumor-necrosis factor.

Learning Point
Criteria for the diagnosis of Beçhet’s disease includes:

• Recurrent oral ulcers – aphthous ulcers are most common
• Plus 2 of the following:
  • Eye disease – including anterior uveitis, panuveitis, and hypopynon (white blood cells in the anterior chamber is almost pathognomonic in the proper clinical setting)
  • Genital ulcers – usually scrotum or labia
  • Skin lesions – acneiform lesions similar to acne vulgaris but in atypical locations such as extremities, erythema nodosum is also seen. Superficial thrombophlebitis may be confused with erythema nodosum
  • Positive pathergy test – skin is sterilly pricked and 48 hours shows a pustule or papule.

Questions for Further Discussion
1. What other diseases are in the differential diagnosis for Beçhet’s disease?
2. What are indications for referral to a rheumatologist and/or immunologist?
3. What are some ways that primary care physicians and specialists can work together to provide quality care to patients?

Related Cases

Disease: Beçhet’s Syndrom

Symptom/Presentation: Upper Extremity Trauma

Specialty: Immunology | Rheumatology

Age: School Ager

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for this topic: Bechet’s Syndrome

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Ozen S. Pediatric onset Behcet disease. Curr Opin Rheumatol. 2010 Sep;22(5):585-9.

Saddoun D. Wechsler B. Bechet’s Disease. Orphanet J Rare Dis. 2012 Apr 12;7:20.

Yazici Y. Bechet Syndrome. ePocrates.
Available from the Internet at https://online.epocrates.com/noFrame/showPage.do?method=diseases&MonographId=376&ActiveSectionId=11 (rev. 12/13/2012, cited5/14/13).

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