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Autoinflammatory Diseases

What are autoinflammatory diseases?

Autoinflammatory diseases refer to a group of diseases that are caused by the dysfunction of parts of the immune system. A child may present with recurrent fevers and spontaneous inflammation affecting many organs. Inflammation is the body’s response to fight off invaders such as viruses or bacteria. In children without an autoinflammatory disease, inflammation will improve when the invader has been eliminated.

In children with an autoinflammatory disease, their bodies may either turn on inflammation cues unnecessarily or may have difficulties in turning off the inflammation. When this happens, the inflammation may cause damage to different organs in the body.

What are the symptoms of autoinflammatory diseases?

The most common symptom of autoinflammatory diseases is recurrent fever. Other symptoms may include:

• Chills
• Skin rash
• Inflammation of internal organs
• Muscle and joint inflammation
• Gastrointestinal symptoms such as abdominal pain
• Mouth or genital sores
• Swollen lymph nodes
• Redness and swelling of the eyes
• Amyloid protein build-up in the kidneys

There are several different types of autoinflammatory diseases, namely:

• Familial Mediterranean Fever (FMF) – This is an autoinflammatory genetic disease that causes recurrent fever and painful inflammation of the joints, lungs and abdomen.
• Cryopyrin-Associated Periodic Syndrome (CAPS) – This is a rare hereditary inflammatory disease that causes episodes of a cold-induced hive-like rash, pain and fever.
• Deficiency of IL-1-Receptor Antagonist (DIRA) – This is an autosomal recessive genetic autoinflammatory syndrome that causes severe skin and bone inflammation and may affect the internal organs as well.
• Hyper IgD Syndrome (HIDS) – This is an inherited recessive gene mutation of the mevalonate kinase gene. It causes attacks that start with chills and a fever that may last for days. An erythematous rash is also commonly noted.

What are the treatment options for autoinflammatory diseases?

Treatment goals for autoinflammatory diseases are to reduce inflammation and help suppress the overactive immune system response. Dr Ambaram may recommend corticosteroid therapy and nonsteroidal anti-inflammatory drugs to treat inflammation. Antitumor necrosis factor (TNF) therapy may also be recommended to treat several types of autoinflammatory diseases.