Autoinflammatory Disease: Why You Really Should Start Caring about Autoinflammatory Syndromes

For a lot of us who are reading the topic of this blog post and who understand what autoinflammatory disease is will eagerly read on and be curious to find out all about why we should, indeed, begin caring about it.

For many others of us, however, it is not as straight forward as we may not know what this disease is. And not knowing about it makes it really hard to start caring for it. In fact, like all autoimmune diseases, for those of us who do not know about it, we may begin to panic a bit, thinking that there is this disease we should care about—and we do not even know what it is.

OK, so what is an autoinflammatory disease?

In simple terms, autoinflammatory diseases and autoimmune diseases, such as Crohn’s disease, Pfapa syndrome, adult-onset Still’s disease, innate immunity, familial cold autoinflammatory syndrome, periodic syndrome, and idiopathic arthritis are a group of conditions that result from the body’s very own immune system beginning to attack itself. The immune system typically reacts like this when it wants to rid the boy of a foreign object such as a virus, bacteria or infection. However, when this mechanism becomes faulty, the immune cells begin to attack the body by mistake. The symptoms include things like fever, rash, swelling of the joints, diarrhea, non-infectious conjunctivitis, vomiting as well as the problematic buildup of a blood protein in the organs, to name a few. These symptoms or resulting conditions of another underlying condition are not contagious just as autoinflammatory disease cannot be passed on from one person to another. We will go into why this is in a little bit.

Autoimmune disease symptoms are ameliorated with prescription drugs that the doctor recommends. But why on earth would the body’s very own immune cells attack the very body they reside in, causing the body harm presumably eventually causes the immune system harm as well, no?

Let’s see why that is.

Autoinflammatory conditions are inherently (pun intended) genetic. There are mutations in the genes that code for signals that regulate the immune response that reacts by rapidly recognizing danger in the body. If these cells are not functioning properly, in the case of autoinflammatory diseases, the immune system attacks the body, which, in turn, manifests itself as several of the symptoms that were mentioned above.

Autoinflammatory flare-ups have characteristic patterns of occurrence each time they take place. These include the duration of the fever as well as abnormal laboratory results such as heightened C-reactive proteins (CRP) as well as Erythrocyte Sedimentation Rate (ESR). In other autoinflammatory conditions, symptoms happen in cyclical patterns, taking place every few weeks. And yet other conditions are more unexpected in nature or may be triggered by unexpected factors such as low temperatures, for example.

There are several autoinflammatory syndromes

There are several autoinflammatory syndromes and one of the growing categories is termed Cryonic-Associated Periodic Syndromes or CAPS. They were originally referred to as Hereditary Periodic Fever Syndromes and they include three categories. These include Familial Cold Autoinflammatory Syndrome (FACS), which are triggered by low temperatures and include symptoms such as rash, general malaise, headaches,and joint aches, fever as well as conjunctivitis. Next, Muckle-Wells Syndrome (MWS), which has the same symptoms as FACS, is triggered by cold temperatures, stress as well as factors that are yet unknown. Its most marked symptom is a progressive hearing loss that begins in adolescence. Lastly, there is Neonatal-Onset Multi system Inflammatory Disease (NOMID) is marked by the most severe symptoms of all CAPS conditions. These include chronic aseptic meningitis that is triggered by inflamed brain tissues as well as several other, severe symptoms such as delayed mental and physical development, a progressive hearing loss that begins in early childhood, joint issues, constant flares with accompanying abnormal laboratory results and papilledema, or swelling of the optic disc.

Once recognized as an autoinflammatory disease-triggered episode, the symptoms of the condition are treatable with medications. However, the biggest problem with the series of disorders is that physicians often do not offer a proper diagnosis. This is mostly due to factors such as inconsistent severity as well as variance. Improper diagnosis, in turn, leads to inadequate therapies. Some physicians may not even recognize the milder forms of autoimmune disease symptoms, which both prolongs as well as complicates therapies even further.

So, now that you know a bit more about some of the more common autoinflammatory diseases as well as about the accompanying syndromes, perhaps it is easier to begin really caring about them. Perhaps the most important aspect of ensuring proper care is genetic testing. Since the conditions are collectively all caused by mutations that render the immune system dysfunctional and unable to make proper decisions about what to attack and what to leave alone, the first step toward improvement is genetic testing for the mutations associated with it. Perhaps another step toward care is to talk to family members who know they have the condition and start from there.

However, perhaps the most important step toward caring about the symptoms of the autoinflammatory disease is actually knowing about them. As the biggest issue revolves around uncertainty around them, being aware of when they make happen, the triggers and so on may help manage the autoinflammatory disease, should you have it. This may be particularly helpful when these symptoms are not recognized as symptoms of autoinflammatory disease but as something else. This may lead to mistreatment and inadequate therapy, which may just prolong care, waste time and money and eventually lower the quality of life. Furthermore, being aware of these symptoms could mean a life or death situation when it comes to NOMID. In those cases, understanding the symptoms and being able to recognize them in a baby could make a world of a difference. Overall, it is best to remain as informed as possible as well as remaining as aware as possible so that future complications could be avoided.

Laura Day
 

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