From the Guidelines
Diagnosing Behçet's Disease requires a comprehensive approach, including clinical criteria and exclusion of other conditions, with initial investigations such as complete blood count, inflammatory markers, and basic metabolic panel, as well as specific tests like pathergy test and HLA-B51 genetic testing, as recommended by the 2018 update of the EULAR recommendations for the management of Behçet's syndrome 1.
Initial Investigations
Initial investigations for diagnosing Behçet's Disease should include:
- Complete blood count to assess overall health
- Inflammatory markers (ESR, CRP) to evaluate inflammation levels
- Basic metabolic panel to assess organ function These tests help in understanding the patient's overall health and the level of inflammation, which is crucial in diagnosing Behçet's Disease 1.
Specific Tests
Specific tests for diagnosing Behçet's Disease include:
- Pathergy test, which is more sensitive in patients from Mediterranean and Middle Eastern regions
- HLA-B51 genetic testing, which may be helpful in certain ethnic groups, though its absence does not rule out the disease
- Ophthalmologic examination to detect ocular involvement These tests are essential in establishing the diagnosis of Behçet's Disease, as they help in identifying the characteristic symptoms of the disease 1.
Additional Investigations
Additional investigations may be necessary to evaluate the extent of organ involvement, including:
- Neuroimaging (MRI) when neurological symptoms are present
- Vascular studies like angiography for patients with suspected vascular involvement
- Cerebrospinal fluid analysis to evaluate for neuro-Behçet's
- Gastrointestinal endoscopy with biopsy for patients with digestive symptoms These investigations help in assessing the severity of the disease and guiding treatment decisions 1.
Diagnosis Criteria
The diagnosis of Behçet's Disease is based on the International Criteria for Behçet's Disease, which requires recurrent oral aphthous ulcers plus at least two additional manifestations, including genital ulcers, eye lesions, skin lesions, or positive pathergy test 1.
From the Research
Investigations for Diagnosing Behçet's Disease
The diagnosis of Behçet's disease is based on clinical criteria, as there is no pathognomonic test 2, 3, 4. The following investigations may be recommended:
- Clinical evaluation: a thorough medical history and physical examination to identify the characteristic symptoms of Behçet's disease, such as oral and genital ulcers, skin lesions, and ocular involvement 2, 3, 4
- Laboratory tests:
- Erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) to assess disease activity and predict active manifestations of the disease 5
- Complete blood count (CBC) to rule out other conditions that may cause similar symptoms
- Blood chemistry tests to evaluate liver and kidney function
- Imaging studies:
- X-rays, computed tomography (CT) scans, or magnetic resonance imaging (MRI) scans to evaluate the extent of organ involvement, such as ocular or vascular involvement
- Pathergy test: a skin prick test that may be positive in some patients with Behçet's disease, although its sensitivity and specificity are limited 4
- Biopsy: a tissue sample may be taken from an affected area, such as the skin or mouth, to confirm the diagnosis and rule out other conditions
- Ophthalmologic examination: a comprehensive eye exam to evaluate the extent of ocular involvement and monitor for potential complications
- Gastrointestinal evaluation: endoscopy or colonoscopy to evaluate the extent of gastrointestinal involvement and monitor for potential complications
Diagnostic Criteria
The International Criteria for Behçet's Disease (ICBD) is a widely used classification system for diagnosing Behçet's disease 4. The ICBD criteria include:
- Recurrent oral ulcers
- Plus any of the following:
- Recurrent genital ulcers
- Eye involvement (uveitis, retinal vasculitis)
- Skin involvement (pseudofolliculitis, erythema nodosum)
- Vascular involvement (venous or arterial thrombosis, aneurysm)
- Gastrointestinal involvement (diarrhea, hemorrhage, perforation, pain)
- Neurological involvement (meningo-encephalitis, other neurological manifestations)
- Articular involvement (arthralgia, arthritis, ankylosing spondylitis)
Note: The diagnosis of Behçet's disease is clinical, and the ICBD criteria may help guide the diagnosis, but they are not definitive 4.