Cryopyrin-Associated Periodic Syndromes

Cryopyrin-Associated Periodic Syndromes (CAPS)

CAPS are a group of rare, inherited, autoinflammatory disorders. CAPS is difficult to diagnose because the symptoms often similar mimic other disorders.

 There are 3 categories of CAPS:K and F

  • Familial Cold Autoinflammatory Syndrome (FCAS)
  • Muckle-Wells Syndrome (MWS)
  • Neonatal-Onset Multisystem Inflammatory Disease (NOMID) (also called Chronic Infantile Neurologic Cutaneous Articular, or CINCA, Syndrome)

The most common shared symptoms, include dermatitis/rash, fever and/or chills, joint pain, fatigue, and eye redness and discomfort. These can happen on a frequent basis.  Episodes of severe symptoms can occur and are usually by cooler temperatures, psychological or physical stress, exercise, or randomly without a known cause.

In its most severe form, CAPS causes blindness and deafness, mental disease, bone deformities, or kidney failure.

The discovery of a gene mutation in some patients with CAPS has led to a greater understanding of CAPS and to the development of medications to relieve symptoms.

What Causes CAPS?

A mutation in the NLRP3 gene controls the production of cryopyrin.  This causes inflammation and the clinical features of rash, fever/chills, joint pain, fatigue, and eye redness/pain.

A person inheriting a copy of the mutated gene from one parent may develop CAPS Children of CAPS patients who have the genetic mutation have a 50% chance of inheriting the mutated gene (Autosomal Dominant inheritance pattern).  CAPS has also been reported in families spontaneously.

What Is an Autoinflammatory Disease?

Autoinflammatory diseases are characterized by an inflammatory reaction that is unprovoked. Recurrent episodes occur, with signs and symptoms that vary by disease and individual. When a foreign entity is detected in the body, the immune system produces antibodies—chemicals that identify and destroy the foreign organisms. Autoimmune diseases such as rheumatoid arthritis, diabetes, multiple sclerosis, and lupus occur when antibodies that are released to fight these foreign organisms also attack healthy tissue. This destruction of healthy tissue causes inflammation.

Diagnosing CAPS

Diagnosis may be delayed because CAPS are rare and the symptoms may seem liker those of other diseases. AAIR providers confirm the diagnosis of CAPS through a thorough evaluation of a patient’s symptoms and medical history, genetic and laboratory testing, and skin biopsy. Although the diagnosis is confirmed in many patients through genetic testing and the identification of NLRP3 mutations, not all patients with CAPS have a detectable genetic mutation.

Talking with Your Healthcare Provider

CAPS are a group of rare diseases but might be more common than we think.  CAPS-like symptoms are seen in other, more common diseases such as systemic juvenile idiopathic arthritis and lupus. In addition, there is a larger class of autoinflammatory diseases called hereditary periodic fever syndromes which are similar to some forms of CAPS.

Answers to the following questions may help your healthcare provider when he or she evaluates your symptoms:

  • Have you suffered from recurrent symptoms such as rash, fever/chills, joint pain, fatigue, and eye redness/pain for most of your life, beginning either at infancy or during early childhood?
  • How often do these symptoms happen?
  • How long do these symptoms last?
  • How many days per month do you have these symptoms?
  • What triggers your symptoms? Cold temperatures? Exercise? Stress?
  • What helps your symptoms go away?
  • Do you have other family members who have similar symptoms?
Jul 7, 2014   1895   Paul Barker    Conditions
Total 0 Votes

Tell us how can we improve this post?

+ = Verify Human or Spambot ?

Log In is required for submitting new question.