Autoinflammatory Disease: The Invisible Epidemic

August 16, 2023

August is Autoinflammatory Disease Awareness Month. One of the more common rare diseases that falls into the autoinflammatory disease category is Familial Mediterranean Fever, a hereditary systemic condition. Others include hyperimmunoglobulin D (IgD) syndrome (HIDS), familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and neonatal-onset multisystem inflammatory disorder (NOMID). 

This is a list of autoinflammatory diseases that are considered rare.

This month, Global Genes asked The Autoimmune Registry to talk about autoinflammatory diseases. 

by Aaron Abend, Erica Matute, and Ingrid He
The Autoimmune Registry

The Autoimmune Registry lists over 150 diseases that share a common feature: the body’s natural defenses – the innate and adaptive immune systems – are confused and attack us instead of the bacteria and viruses they are intended for. In over half of these diseases, the adaptive immune system is at fault. This is the system that responds when, typically, a virus attacks your cells, and our adaptive immune system creates antibodies to fight them off. When we first encounter a disease-causing germ, we get sick because the system still has to “adapt” to the new virus. But the next time we are exposed to that virus, we might not even realize it since the antibodies are ready and waiting the second time around.

However, in the other half of the diseases on the Autoimmune Registry List of Diseases, there are faults in the innate immune system. This is the system that reacts immediately to whatever our body encounters – viruses, bacteria, chemicals, or just dust and dirt. The innate immune system works by sending out signals that increase blood flow to the affected area and bring specialized cells that “eat” the foreign substance.  When the attack is over, this inflammatory response should stop, but sometimes it doesn’t. For reasons we still do not understand, the inflammation continues at a low level, sometimes causing fevers, often causing pain, and almost always tapping our strength and energy to an extent that the word “fatigue” simply does not explain.

Inflammation is a normal process, but when it is turned on for the wrong reason or remains on when the problem is gone, it is called “autoinflammation”. Autoinflammatory diseases make up almost half of the diseases on our list, but scientists have discovered autoinflammatory activity going on in almost all the antibody-related autoimmune diseases as well.

An autoinflammatory disease is like a spy ring that has penetrated our body and is working against us. Unfortunately, figuring out who the spies are is always a challenge. Not all inflammation is bad, and it is difficult to create medications that eliminate bad inflammation without also eliminating good inflammation. This is one reason people with autoinflammatory diseases are at greater risk for diseases like COVID-19.

The human immune system is one of the most complex in nature, which makes it hard to rely on studies of mice to understand these diseases and develop new treatments.  Participation by those who suffer from these diseases is essential to this research. The Autoimmune Registry provides links to clinical trials for all autoimmune and autoinflammatory diseases. The researchers behind these studies are dedicated scientists who have spent years on these challenging medical problems, but without patients to examine and treat, they cannot make progress.

Autoinflammation has been linked to many diseases, including heart disease, Alzheimer’s, and diabetes, although the connections between the inflammation and the diseases are still being studied.  Autoinflammation is almost certainly the largest single cause of disease in the US, but it needs more attention from scientists, doctors, and the policy makers who decide where financial resources from the National Institutes of Health and other organizations are applied.  For more information on how to participate in research, please contact The Autoimmune Registry.

To register:





Szekanecz, Z., McInnes, I.B., Schett, G. et al. Autoinflammation and autoimmunity across rheumatic and musculoskeletal diseases. Nat Rev Rheumatol 17, 585–595 (2021).

Vanderbilt Medicine: The Good, The Bad and the Ugly of Inflammation, William Snyder. Accessed 8/14/2023.

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