Behcet-Like Familial Autoinflammatory Syndrome

Background and History: 

Behcet disease is a poorly understood disorder of inflammation in several organ systems including the gastrointestinal tract, the skin, the eye, and the genitalia.  It is not known to be hereditary in its complete form but the syndrome described here is caused by a gene and is transmissible in some families.

Clinical Correlations: 

The condition generally has its onset in the first or second decades of life.  Patients have oral and genital ulcers.  Some individuals develop arthritis in multiple joints, a skin rash, and inflammation with ulcers in the gastrointestinal tract.  Several patients have developed periodic fevers and at least one had an anemia.  The eyes may have an inflammatory disease known as uveitis.

Blood tests may reveal an unusual pattern of antibodies including those found in lupus.


A gene mutation has been identified in these patients and it seems to have a vertical pattern in some families consistent with autosomal dominant inheritance.  That is, parents with this condition may pass on the mutation directly to their children with a 50% probability.

Diagnosis and Prognosis: 

The diagnosis requires a multidisciplinary approach rheumatologists, gastroenterologists, dermatologists, internists, hematologists, and ophthalmologists.  The prognosis is highly variable depending upon the severity of disease.

Treatment is complex but some patients have responded favorably to the application of tumor necrosis factors or colchicines.

Additional Information
Autosomal dominant