Yao syndrome

Yao syndrome is a rare autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, swelling, and pain. It was first described by Dr. Qiong Yao in 2011, hence the name. The syndrome is also known as NOD2-associated autoinflammatory disease.

Symptoms and Signs

Yao syndrome typically presents with recurrent episodes of fever, dermatitis, arthritis, and swelling. The fever episodes can last for several days and are often accompanied by fatigue, loss of appetite, and weight loss. Dermatitis in Yao syndrome is characterized by red, itchy, and scaly skin. Arthritis and swelling usually affect the joints of the hands and feet, but can also involve other joints.

Causes

Yao syndrome is caused by mutations in the NOD2 gene. This gene provides instructions for making a protein that plays a crucial role in the immune system. The NOD2 protein helps the body recognize and respond to bacteria and other microorganisms. Mutations in the NOD2 gene disrupt the normal function of the protein, leading to an overactive immune response and inflammation.

Diagnosis

The diagnosis of Yao syndrome is based on the clinical symptoms and genetic testing. Genetic testing can identify mutations in the NOD2 gene. However, not all individuals with Yao syndrome have identifiable mutations in this gene.

Treatment

There is currently no cure for Yao syndrome. Treatment is aimed at managing the symptoms and preventing complications. This may include anti-inflammatory medications, pain relievers, and immunosuppressive drugs. In some cases, surgery may be needed to treat joint damage.

Prognosis

The prognosis for individuals with Yao syndrome varies. Some individuals may have mild symptoms and a normal life expectancy, while others may experience severe symptoms and complications that can affect their quality of life and lifespan.

See Also

• Autoinflammatory diseases
• NOD2
• Genetic testing