What are autoinflammatory diseases?
The immune system is a network of cells and tissue throughout the human body that defends the body from infection and other invaders like viruses and bacteria. There are two parts of the immune system: the acquired immune system and the innate immune system. The acquired immune system develops as one grows, producing substances called antibodies that fight off and remember invaders. The innate immune system also destroys invaders, but uses white blood cells to do it.
Autoinflammatory diseases, sometimes also referred to as periodic fever syndromes, involve problems with the innate immune system. They cause immune cells to attack the body by mistake, which then causes symptoms usually characterized by intense periods of inflammation. They are different from autoimmune disorders, which affect the acquired immune system.
Autoinflammatory conditions are very rare; depending on the type of disease the patient has. They may be so rare they’ve only been documented in a handful of people. Many are present during childhood.
What are the symptoms of autoinflammatory diseases?
Generally, the following are symptoms one can expect from an autoinflammatory disease:
- Joint swelling
- Amyloidosis (buildup of blood protein in organs)
What are the types of autoinflammatory diseases?
While this is not a comprehensive list, below are some types of autoinflammatory disease and their respective symptoms:
- Familial Mediterranean Fever (FMF): The most common genetic autoinflammatory disease. Symptoms include recurring bouts of fever, intense abdominal and chest pain, arthritis, and skin rashes.
- Cryopyrin-Associated Periodic Syndromes (CAPS): Symptoms include rash, headaches, joint pain, recurring fevers, and conjunctivitis (Pinkeye). It is present at birth or infancy. It actually encompasses three different forms of the disease:
- Familial Cold Autoinflammatory Syndrome (FCAS): Along with general symptoms listed above, its reactions are very tied to cold exposure.
- Muckle-Wells Syndrome: Along with general symptoms listed above, can also cause hearing loss
- Neonatal Onset Multisystem Inflammatory Disease (NOMID): Along with general symptoms listed above, can also cause vision and hearing loss, as well as mental retardation.
- Periodic Fever, Aphthous stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA): Most common autoinflammatory disease in children under 5. Symptoms include periodic flares of high fever, mouth sores, red and inflamed throat, and swollen lymph nodes.
- Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature (CANDLE) Syndrome: Can appear in infancy. Symptoms include recurring bouts of fever, purpura (discolored red and purple spots on the skin), joint pain, developmental delay, and facial changes (loss of fat in the face, swollen lips and eyelids).
- Behçet’s Disease: In the United States, this affects more women than men, and symptoms usually presents in early adulthood. Symptoms include mouth or genital sores, eye redness and swelling, arthritis, and skin problems.
What cause autoinflammatory diseases?
In autoinflammatory diseases, the innate immune system reacts often without cause or control. These diseases are usually caused by mutations in genes, which then causes problems with proteins important to specific body functions. Sometimes, the causes of the disease are unknown.
How are autoinflammatory diseases diagnosed?
Autoinflammatory diseases can be diagnosed using the following procedures:
- Genetic testing
- Recording of family history
What are the treatments for autoinflammatory diseases?
Treatment for autoinflammatory diseases usually include:
- Medications to reduce any swelling and/or pain
- Medications that act on the immune system
Where can I find out more about autoinflammatory diseases?