Behçet's disease diagnostic study of choice

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Hamid Qazi, MD, BSc [2]

Overview

Diagnostic Study of Choice

Study of choice

  • [Name of the investigation] is the gold standard test for the diagnosis of [disease name].
  • The following result of [gold standard test] is confirmatory of [disease name]:
    • Result 1
    • Result 2
  • The [name of the investigation] should be performed when:
    • The patient presented with symptoms/signs 1. 2, 3.
    • A positive [test] is detected in the patient.
  • [Name of the investigation] is the gold standard test for the diagnosis of [disease name].
  • The diagnostic study of choice for [disease name] is [name of the investigation].
  • There is no single diagnostic study of choice for the diagnosis of [disease name].
  • There is no single diagnostic study of choice for the diagnosis of [disease name], but [disease name] can be diagnosed based on [name of the investigation 1] and [name of the investigation 2].
  • [Disease name] is mainly diagnosed based on clinical presentation.
  • Investigations:
    • Among patients who present with clinical signs of [disease name], the [investigation name] is the most specific test for the diagnosis.
    • Among patients who present with clinical signs of [disease name], the [investigation name] is the most sensitive test for diagnosis.
    • Among patients who present with clinical signs of [disease name], the [investigation name] is the most efficient test for diagnosis.

The comparison of various diagnostic studies for [disease name]

Test Sensitivity Specificity
Test 1 ...%
Test 2 ...%

✔= The best test based on the feature

Diagnostic results

The following result of [investigation name] is confirmatory of [disease name]:

  • Result 1
  • Result 2
Sequence of Diagnostic Studies

The [name of investigation] should be performed when:

  • The patient presented with symptoms/signs 1, 2, and 3 as the first step of diagnosis.
  • A positive [test] is detected in the patient, to confirm the diagnosis.

Diagnostic Criteria

  • Here you should describe the details of the diagnostic criteria.
  • Always mention the name of the criteria/definition you are about to list (e.g. modified Duke criteria for the diagnosis of endocarditis / 3rd universal definition of MI) and cite the primary source of where this criteria/definition is found.
  • Although not necessary, it is recommended that you include the criteria in a table. Make sure you always cite the source of the content and whether the table has been adapted from another source.
  • Be very clear as to the number of criteria (or threshold) that needs to be met out of the total number of criteria.
  • Distinguish criteria based on their nature (e.g. clinical criteria / pathological criteria/ imaging criteria) before discussing them in details.
  • To view an example (endocarditis diagnostic criteria), click here
  • If relevant, add additional information that might help the reader distinguish various criteria or the evolution of criteria (e.g. original criteria vs. modified criteria).
  • You may also add information about the sensitivity and specificity of the criteria, the pre-test probability, and other figures that may help the reader understand how valuable the criteria are clinically.
  • [Disease name] is mainly diagnosed based on clinical presentation. There are no established criteria for the diagnosis of [disease name].
  • There is no single diagnostic study of choice for [disease name], though [disease name] may be diagnosed based on [name of criteria] established by [...].
  • The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
  • The diagnosis of [disease name] is based on the [criteria name] criteria, which includes [criterion 1], [criterion 2], and [criterion 3].
  • [Disease name] may be diagnosed at any time if one or more of the following criteria are met:
    • Criteria 1
    • Criteria 2
    • Criteria 3

IF there are clear, established diagnostic criteria:

  • The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
  • The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
  • The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].

IF there are no established diagnostic criteria: 

  • There are no established criteria for the diagnosis of [disease name].

Because oral aphthous ulcers are so common in the general population and Behçet syndrome is so rare, Behçet syndrome is best diagnosed in the context of recurrent aphthous ulcerations along with characteristic systemic manifestations. Systemic manifestations which should raise suspicion for Behçet syndrome include ocular disease, especially hypopyon, panuveitis, or retinal vasculitis; neurologic disease including characteristic central nervous system parenchymal findings; vascular disease, particularly pulmonary artery aneurysms, Budd-Chiari syndrome, and cerebral venous thrombosis; and patients with pathergy manifestations. Oral ulcerations also tend to be more frequent and severe in patients with Behçet syndrome. Genital ulcerations are more specific and less sensitive for the detection of Behçet syndrome. Behçet syndrome should also be considered more strongly in patients with the aforementioned symptoms who live along the Silk Road from eastern Asia to the Mediterranean Sea [104,105].

There are no pathognomonic laboratory tests in Behçet syndrome; as a result, the diagnosis is made on the basis of the clinical findings. In the absence of other systemic diseases, we diagnose Behçet syndrome in patients with recurrent oral aphthae (at least three times in one year) plus two of the following clinical features:

●Recurrent genital aphthae (aphthous ulceration or scarring).

●Eye lesions (including anterior or posterior uveitis, cells in vitreous on slit lamp examination, or retinal vasculitis observed by an ophthalmologist).

●Skin lesions (including erythema nodosum, pseudo-vasculitis, papulopustular lesions, or acneiform nodules consistent with Behçet syndrome).

●A positive pathergy test. Pathergy is defined by a papule 2 mm or more in size developing 24 to 48 hours after oblique insertion of a 20-gauge needle 5 mm into the skin, generally performed on the forearm.

This approach is consistent with the International Study Group (ISG) diagnostic criteria published in 1990 (table 2) [25]. These remain the most widely used and well-accepted criteria among experts in Behçet syndrome. (See 'Classification criteria' below.)

Pathergy is less common in Northern European and North American patients. Thus, it has been suggested that other features might be substituted for pathergy in these populations, including aseptic meningoencephalitis, cerebral vasculitis, recurrent phlebitis, arteritis, synovitis, or focal bowel ulceration [106].

There are patients who do not meet these criteria in whom the diagnosis of Behçet syndrome is still made, and establishing the diagnosis in such patients is much more difficult. Thus, it is often appropriate to refer a patient in whom the diagnosis of Behçet syndrome is suspected to a rheumatologist with experience in this disease.

References

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