This August, it’s time to spread the word about a rare disease that may not be that rare after all. It’s called autoinflammatory disease and is actually a category of genetic conditions characterized by recurring attacks of inflammation.
Most are caused by genetic mutations in molecules that regulate the immune system. These can cause symptoms that are simple such as fever or rash, or complex such as lymphadenopathy and musculoskeletal symptoms.
According to the Cleveland Clinic, autoinflammatory diseases include:
- familial Mediterranean fever (FMF)
- periodic fever associated with mevalonate kinase deficiency (hyperimmunoglobulin D syndrome, also called hyper IgD syndrome)
- TNF receptor associated periodic syndrome (TRAPS)
- cryopyrin-associated periodic syndromes CAPS
- Muckle-Wells syndrome
- Blau syndrome
- neonatal onset multisystem inflammatory disease
Why are these diseases foreign to many people? Well, autoimmune diseases (such as lupus or rheumatoid arthritis) get a lot of play in the media, but autoinflammatory diseases, not so much. Here’s one reason why they are less talked about: They have only been acknowledged as a distinct syndrome category since 1999.
Autoinflammatory and autoimmune diseases share a lot of the same characteristics and symptoms, such as joint pain, swelling, rash and fatigue. But the distinction is this:
- Autoinflammatory disease is a malfunction of the innate immune system
- Autoimmune diseases are caused by a malfunction in the adaptive immune system
What’s the difference? The innate immune system uses basic tools (white blood cells and inflammation) to fight off diseases, while the adaptive immune system acquires its immunity from expose to pathogens over time (what we call “building up immunity”).
So when the innate immune system malfunctions, it’s like a fire alarm sounding when there’s no fire present and it cannot be shut off.
Because these conditions take the form of so many different rare diseases, it’s hard to measure how many people are effected by autoinflammatory diseases. Many of these conditions are diagnosed in infancy or childhood and some present themselves later in life.
People who have these conditions may experience outbreaks or flares of fever, rashes, skin conditions, joint or bone pain and eye inflammation.
Fortunately, for those who suffer from these conditions, there is support. The Autoinflammatory Alliance promotes collaboration among healthcare professionals to encourage the sharing of research and data that could lead to better treatments. And this month there’s no better time to help spread awareness for autoinflammatory syndromes.
Here are five easy ways you can get involved.
- Join the Autoinflammatory Alliance community on Facebook and connect with others who share your condition.
2. Sign up to participate in clinical trials for CAPS, Neonatal Onset Multisystem Inflammatory Disease, or other rare autoinflammatory conditions.
3. Show your support by purchasing an “I care about rare autoinflammatory disease” bracelet. Proceeds benefit the Autoinflammatory Alliance.
4. Donate to support patients suffering from autoinflammatory diseases here.
5. Share your story here on Patient Worthy!