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.^3,4 Common 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

There are no known synonyms.

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:117 Behçet disease

ICD-11: 4A62 Behçet disease

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.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

The exact cause of Behçet’s disease is unknown.¹

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

A differential diagnosis can rule out other conditions that have similar symptoms, such as 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.

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

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

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.

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.

The following guidance is available from international experts outside Australia; however, there may be information that is not relevant or applicable to the Australian context, and may not be up to date:

• 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.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

Anaesthesia recommendations for Behçet disease may include relevant emergency management for individuals living with Behçet’s disease; please note this was last updated in 2017.

Australia and New Zealand Vasculitis Quality and Disease Registry (ANZVASC-QDR) is a vasculitis registry established in 2024 by Australia and New Zealand Vasculitis Society (ANZVASC) in partnership with Monash University.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

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

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

Australian Organisation:

Australia and New Zealand Vasculitis Society (ANZVASC)
Website: https://www.anzvasculitis.org/

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 monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

Behçet’s disease vary between individuals, and each person’s experience is unique.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

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.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

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

• Genetic and Rare Diseases (GARD) Information Center: Behçet disease
• National Organization for Rare Disorders (NORD): Behçet’s disease

• Online Mendelian Inheritance in Man, OMIM^®: #109650 Behcet Syndrome
• Orphanet: Behçet disease

This page has been developed by Rare Voices Australia (RVA)’s RARE Portal team.

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.