Autoinflammatory diseases, also known as periodic fever syndromes, are a group of rare conditions in which the body’s immune system mistakenly attacks healthy cells and tissues. They are characterized by recurrent episodes of fever and inflammation of various parts of the body with no known cause. Common symptoms of autoinflammatory diseases include fever, rash, joint pain, abdominal pain, and fatigue.
Types of Autoinflammatory Diseases
The most common types of autoinflammatory diseases include:
- Familial Mediterranean Fever (FMF): This is the most common form of autosomal recessive autoinflammatory disease. It is characterized by recurrent episodes of fever, pain and swelling in the abdomen, joints, and chest.
- Cryopyrin-Associated Periodic Syndromes (CAPS): This is a group of rare autoinflammatory diseases caused by mutations of the NLRP3 gene. It is characterized by recurrent episodes of fever, rash, joint pain, and inflammation of the eyes.
- TNF Receptor-Associated Periodic Syndrome (TRAPS): This is an autosomal dominant autoinflammatory disease caused by mutations of the TNFRSF1A gene. It is characterized by recurrent episodes of fever, skin rash, joint pain, and abdominal pain.
- Hyperimmunoglobulinemia D Syndrome (HIDS): This is an autosomal recessive autoinflammatory disease caused by mutations of the MVK gene. It is characterized by recurrent episodes of fever, rash, joint pain, and abdominal pain.
- Blau Syndrome: This is an autosomal dominant autoinflammatory disease caused by mutations of the NOD2 gene. It is characterized by recurrent episodes of fever, rash, joint pain, and eye inflammation.
Diagnosis and Treatment of Autoinflammatory Diseases
Autoinflammatory diseases are often difficult to diagnose due to the wide range of symptoms and because the symptoms may resemble those of other conditions. Diagnosis typically involves a physical exam, a detailed medical history, and laboratory tests. Treatment may include non-steroidal anti-inflammatory drugs (NSAIDs), corticosteroids, and biological medications.
Autoinflammatory diseases can be managed with proper diagnosis and treatment, and some may even resolve without treatment. It is important to talk to your doctor if you are experiencing any of the symptoms described above.