What are the other Names for this Condition? (Also known as/Synonyms)

• AIFBL1 (Autoinflammatory Syndrome, Familial, Behçet-like 1)
• FBAS (Familial Behçets-like Autoinflammatory Syndrome)
• Haploinsufficiency of A20 (HA20)

What is Familial Behçets-like Autoinflammatory Syndrome? (Definition/Background Information)

• Familial Behçets-like Autoinflammatory Syndrome (FBAS) is a rare genetic disorder characterized by recurrent episodes of fever, skin rashes, mouth sores, genital ulcers, and inflammation of the eyes and joints. FBAS typically affects children
• The disorder is caused by a genetic mutation in the TNFAIP3 gene, which leads to overactivity of certain inflammatory proteins. It is inherited in an autosomal dominant pattern, A positive family history of Familial Behçets-like Autoinflammatory Syndrome may increase one’s risk for developing the disorder
• A diagnosis of the disorder is made by a pediatric rheumatologist or pediatrician based on the presenting signs and symptoms, physical examination, laboratory test results, and genetic testing. Familial Behçets-like Autoinflammatory Syndrome may be treated using non-steroidal anti-inflammatory drugs (NSAIDs), immunosuppressants, and biologic therapy
• The prognosis of Familial Behçets-like Autoinflammatory Syndrome depends on its severity disorder and treatment effectiveness. With early diagnosis and treatment, most individuals are able to manage their symptoms and prevent complications that may include long-term joint damage growth delay, vision loss, and kidney and lung issues that can be fatal

Who gets Familial Behçets-like Autoinflammatory Syndrome? (Age and Sex Distribution)

• Familial Behçets-like Autoinflammatory Syndrome (FBAS) is a rare disorder that primarily affects children. It can also occur in adults
• It is more common in males than females
• The disorder has been reported in individuals of Turkish, European, and Japanese ancestry

What are the Risk Factors for Familial Behçets-like Autoinflammatory Syndrome? (Predisposing Factors)

The main risk factors for developing Familial Behçets-like Autoinflammatory Syndrome (FBAS) include:

• Having a family history of FBAS or other autoinflammatory disorders
• Genetic mutation in the TNFAIP3 gene
• Individuals previously diagnosed with Behcet’s disease may subsequently develop FBAS 

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others. 

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Familial Behçets-like Autoinflammatory Syndrome? (Etiology)

• Familial Behçets-like Autoinflammatory Syndrome (FBAS) is caused by a genetic mutation in the TNFAIP3 gene, which leads to overproduction of certain inflammatory proteins
• This mutation is transmitted as an autosomal dominant manner

What are the Signs and Symptoms of Familial Behçets-like Autoinflammatory Syndrome?

The signs and symptoms of Familial Behçets-like Autoinflammatory Syndrome (FBAS) may include the following:

• Recurrent episodes of
  • Fever
  • Skin rashes
• Mouth sores
• Genital ulcers
• Inflammation of the eyes and joints
• Rarely, individuals are noted to have neurologic, cardiac pulmonary, or vascular inflammation, or low antibodies and white blood cells

Onset of signs and symptoms of the disorder is usually noted in childhood.

How is Familial Behçets-like Autoinflammatory Syndrome Diagnosed?

Familial Behçets-like Autoinflammatory Syndrome (FBAS) is diagnosed by a pediatric rheumatologist or pediatrician based on the individual’s (child’s) signs and symptoms, physical examination, laboratory test results, and genetic testing.

• Pathergy (skin condition) is sometimes present and can contribute to the diagnosis. This consists of a minor skin wound, such as a needle stick for a blood draw, leading to a local ulcer in the skin instead of the usual prompt healing
• During disease flares, inflammatory markers of C-reactive protein (CRP) or erythrocyte sedimentation ratio (ESR) are elevated. Some individuals have positive or weak positive tests for systemic lupus erythematosus (SLE) without meeting criteria for lupus
• On HLA testing, some individuals may present HLA-B51, HLA-B15, HLA-B39, or HLA-B44

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Familial Behçets-like Autoinflammatory Syndrome?

Complications of Familial Behçets-like Autoinflammatory Syndrome (FBAS) may include:

• Long-term joint damage
• Growth delay
• Chronic pain

In some cases, complications can also include vision loss and kidney and lung problems. Severe cases of FBAS can result in death without treatment.

How is Familial Behçets-like Autoinflammatory Syndrome Treated?

The treatment for Familial Behçets-like Autoinflammatory Syndrome may include the use of:

• Non-steroidal anti-inflammatory drugs (NSAIDs)
• Corticosteroids
• Immunosuppressants
• Biologic therapy

How can Familial Behçets-like Autoinflammatory Syndrome be Prevented?

• Familial Behçets-like Autoinflammatory Syndrome is a genetic disorder that is not preventable
• Genetic counseling may be recommended for individuals with a family history of the disorder

What is the Prognosis of Familial Behçets-like Autoinflammatory Syndrome? (Outcomes/Resolutions)

• The prognosis for individuals with Familial Behçets-like Autoinflammatory Syndrome (FBAS) varies depending on the severity of the disorder and the effectiveness of treatment
• With early diagnosis and treatment, most individuals are able to manage their symptoms and prevent long-term joint damage and other complications

Additional and Relevant Useful Information for Familial Behçets-like Autoinflammatory Syndrome:

The following link is a useful resource for further information on rare diseases and disorders:

https://www.dovemed.com/diseases-conditions/rare-disorders/