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Increasing Awareness, Care and Treatment for CAPS
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Learn-Autoinflammatory Syndromes
Many Autoinflammatory Diseases Have a Range of Severity
Autoinflammatory diseases are caused by genetic mutations in molecules that are involved in regulating the innate immune response-a "hard wired" defense system that evolved to quickly recognize and act against infectious agents and other danger signals produced by our bodies.

It is important not to confuse autoinflammatory syndromes with autoimmune diseases, such as: Lupus, Rheumatoid Arthritis and others that are caused by the body's adaptive immune system developing antibodies to antigens that then attack healthy body tissues.

Autoinflammatory diseases are not contagious. When patients are having flares of their disease symptoms they cannot infect anyone, even if they are having a fever, rash, non-infectious conjunctivitis, vomiting, diarrhea or other symptoms that can be confused as an illness. These symptoms are triggered by the autoinflammatory disease,which in most cases are caused by genetic mutations. It is important to distinguish disease flares from infectious diseases.

In general, autoinflammatory disease flares follow a characteristic pattern each time that they occur, such as: The length of time with the fever, the accompanying symptoms,increases in inflammatory labs during flares, including elevated C-reactive protein (CRP), and Erythrocyte Sedimentation Rate (ESR). In some conditions, such as PFAPA, patients can get flares that occur around the same time every few weeks. Other autoinflammatory diseases may have a more sporadic and unpredictable flare pattern, or they may be triggered by certain factors, such as exposure to cold or cooling temperatures leading to flares of symptoms in patients with CAPS.

Cryopyrin-Associated Periodic Syndromes (CAPS) are members of a growing family of autoinflammatory diseases, which were originally referred to as Hereditary Periodic Fever Syndromes. To learn about some of these autoinflammatory diseases , please choose a syndrome on the list to the left.

We will start our discussion of autoinflammatory diseases with information about CAPS, to show how even within one genetic disease, there can be a great variance in the severity of chronic inflammation, and effects from the condition.

The range of severity and variance is a common finding with most of these diseases, and can add to the challenge of getting a proper diagnosis, and treatment, because some medical professionals may not recognize milder forms of some autoinflammatory diseases, or expect that patient must have all the listed symptoms to be able to be diagnosed with the disease.

We highly recommend reviewing our comparative chart on this site, and all the systemic findings and characteristics with the understanding that not every patient will manifest with all the listed symptoms. But we hope that doctors consider these diseases when presented with these sorts of symptoms, then try to do diagnostic tests,genetics and other evaluations to give an overall clinical diagnosis.

Visit our new autoinflammatory-search.org searchable, comparative chart database of systemic autoinflammatory diseases.

For more information about autoinflammatory diseases and the innate immune system, please visit:
NIAMS Autoinflammatory Disease Information

THE THREE KNOWN FORMS OF CAPS ARE:
  • Familial Cold Autoinflammatory Syndrome (FCAS) also known as Familial Cold Urticaria (FCU) or Familial Cold Urticaria Syndrome (FCUS)
  • Muckle-Wells Syndrome (MWS)
  • Neonatal-Onset Multisystem Inflammatory Disease (NOMID), also known as Chronic Infantile Neurological Cutaneous Articular Syndrome (CINCA)
Common Symptoms Present in All CAPS Disorders:
Rash Headaches Periodic Fevers
General Malaise Joint Pain Conjunctivitis
Varying Severity of Symptoms within CAPS
Before the genetic mutation for CAPS was discovered, FCAS, MWS and NOMID/CINCA were considered to be different and unrelated periodic fever syndromes. In the 21st century, genetic mutations in the NLRP3 (CIAS1) gene were found to be present in most patients with these syndromes. Now, these three syndromes are believed to represent varying degrees of chronic inflammation caused by the same condition (CAPS) within the NLRP3 genetic mutation region. If you consider all the syndromes of CAPS as the same disorder, with FCAS at the low end of severity, and NOMID/CINCA at the high end, Muckle-Wells falls in the middle region on this disease spectrum. Many patients have overlapping symptoms along the CAPS inflammation spectrum between each classification of FCAS, MWS and NOMID. It is important to look at the classic findings for each of these forms of CAPS to understand how these syndromes are very similar, yet unique.

The most common findings between all the CAPS syndromes are the rash, fevers and inflammatory symptoms present at birth or in early infancy. Other common symptoms include: Flares of increased symptoms accompanying the fevers, rash, joint pain, conjunctivitis, headaches, and general malaise. More severe forms of CAPS (such as NOMID, or MWS/NOMID crossover) involve more chronic inflammation that can cause hearing loss, brain inflammation, pressure on the optic nerves (papilledema)and can even lead to cognitive, mental delays,growth stunting and many other permanent impairments. Almost all patients with FCAS, many with MWS and some NOMID patients note that their symptoms can increase after exposure to cold or cooling temperatures.