Behçet’s Disease

Diseases of the immune system Autoinflammatory disorders

Rare Disease Classifications:

ORPHA:117 Behçet disease

ICD-11: 4A62 Behçet disease

IMPORTANT INFORMATION

The information on the Rare Awareness Rare Education (RARE) Portal is intended for educational purposes only and does not replace professional advice.

Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique. Please seek support from qualified healthcare professionals to learn more about the most suitable care and support options for you.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.

Emergency Management

There may be special considerations for the emergency management of individuals living with Behçet’s disease presenting to emergency departments.

Anaesthesia recommendations for Behçet disease may include relevant emergency management for individuals living with Behçet’s disease.

Clinical Care Guidelines

We are not aware of any clinical care guidelines for Behçet’s disease in Australia. If you know of any relevant care guidelines, please let us know via the Contribute page.

There are several international recommendations:

French recommendations for the management of Behçet’s disease; this was published in 2021
OrphanAnesthesia has Anaesthesia recommendations for Behçet disease; please note this was last updated in 2017.

Summary

Behçet’s disease is a type of vasculitis that is characterised by inflammation and swelling of blood vessels.^1,2 It often affects multiple organs in the body, such as the skin, mucous membranes, eyes, joints, gut (gastrointestinal system) and nervous system.^3,4Common symptoms include sores (ulcers) affecting the mouth and genitals, skin lesions, joint pain and swelling of the eyes.^1,2 Individuals with Behçet’s disease may go into remission (symptoms become inactive) and then relapse (symptoms become active again) over time, and will require on-going monitoring.^1-3

Useful Links for Professionals

Online Mendelian Inheritance in Man (OMIM): #109650 BEHCET SYNDROME

Orphanet: Behçet disease

Symptoms

The symptoms and severity of Behçet’s disease may vary widely between individuals.¹

Common symptoms of Behçet’s disease may include:^1-3

frequent mouth sores (ulcers), including on the tongue, gums and lining of the mouth
genital sores
inflammation of the eyes, causing redness and blurred vision
pain and swelling in the joints
skin issues

There may also be inflammation of the digestive system, brain and spinal cord.^2,3 Complications may include blindness, clots in blood vessels (thrombosis) and neurological issues.^2,3,5

Please speak to your medical team to learn more about the symptoms and complications of Behçet’s disease.

Cause/Inheritance

The exact cause of Behçet’s disease is unknown but individuals with a particular type of immune genes (HLA-B51 serotype) may be at higher risk (predisposed) to developing Behçet’s disease.¹

Diagnosis

Diagnosis of Behçet’s disease is typically based on detailed medical history and physical examination.¹

Criteria for a Behçet’s disease diagnosis includes:^{1, 3}

Repeated occurrence (3 or more episodes) of mouth sores within one year,
and at least two of the following signs:
repeated occurrence (recurring) of genital ulcers
inflammation and lesions in the eye
skin lesions that appear like bumps under the skin
positive pathergy test indicating hypersensitivity to trauma; this involves pricking the forearm with a sterile needle and observing for red bumps or blisters

Blood tests may be performed to look for inflammatory markers.¹

Differential diagnosis includes sarcoidosis, multiple sclerosis, Crohn’s disease, Takayasu arteritis, polychondritis or antiphospholipid syndrome.⁶

Please speak to your medical team to learn more about the diagnostic pathway for Behçet’s disease.

Treatment

There is currently no curative treatment for Behçet’s disease, but there are strategies to relieve and manage the symptoms.¹Treatment strategies may depend on disease severity and may involve:

corticosteroids to reduce inflammation
medication that suppresses the immune system (immunosuppressive drugs)
therapeutic agents to inhibit certain inflammatory pathways in the body

Regular monitoring is recommended to identify and prevent complications such as blindness.¹

It is best to speak with your medical team to learn more about possible treatment strategies for Behçet’s disease and its associated complications.

Clinical Care

Healthcare professionals involved in the treatment of Behçet’s disease may include general practitioners (GP), nephrologists, neurologists, rheumatologists, dermatologists, ophthalmologists, gastroenterologists, pulmonologists, and vascular physicians.^2,4 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Research

Please visit Australian Clinical Trials to learn about clinical trials for Behçet’s disease in Australia; there may not be any clinical trials currently available.

Information regarding clinical trials for Behçet’s disease in other countries can be found at ClinicalTrials.gov; there may not be any clinical trials currently available.

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Rare Disease Organisation(s)

Australia and New Zealand Vasculitis Society (ANZVASC)RVA Partner Australian Organisation
Website: https://www.anzvasculitis.org/
Contact form: https://www.anzvasculitis.org/contact-us/

The Australian and New Zealand Vasculitis Society (ANZVASC) is a collaborative organisation of physicians, scientists, and communities that focuses on research, education, and clinical practices in vasculitis.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance.

Australia and New Zealand Vasculitis Society (ANZVASC): Patient Support lists a range of support resources for individuals with vasculitis.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

Mental Health

Please visit the ‘Mental Health’ sections listed on the National and State Services pages.

Other

Further information on Behçet’s disease can be found at:

References

Australia and New Zealand Vasculitis Society (ANZVASC). Vasculitis types. Accessed 17 April 2024. https://www.anzvasculitis.org/vasculitis-types/
Genetic and Rare Diseases (GARD) Information Center. Behçet disease. Accessed 17 April 2024. https://rarediseases.info.nih.gov/diseases/848/behet-disease
National Organization for Rare Disorders (NORD). Behçet’s disease. Accessed 17 April 2024. https://rarediseases.org/rare-diseases/behcets-syndrome
Kone-Paut I, Barete S, Bodaghi B. et al. French recommendations for the management of Behçet’s disease. Orphanet. J. Rare Dis. 2021; 16(1):352. https://doi.org/10.1186/s13023-020-01620-4
Orphanet. Behçet disease. Accessed 17 April 2024. https://www.orpha.net/en/disease/detail/117
Saadoun D, Wechsler B. Behçet’s disease. Orphanet. J. Rare Dis. 2012;7:20. https://doi.org/10.1186/1750-1172-7-20

Page Last Updated

22/05/2024 12:40

Diseases of the immune system Autoinflammatory disorders