CAPS (cryopyrin-associated periodic syndrome) is a group of rare genetic diseases that can cause rashes, fevers, joint pain, and other inflammatory symptoms. These symptoms often occur after exposure to cold or damp air or a drop in temperature, but symptoms may also show up for no clear reason. Cryopyrin is a protein responsible for triggering the inflammation and painful symptoms of CAPS. A malfunction in this protein is what these diseases have in common. Three syndromes comprise CAPS: Familial Cold Auto-inflammatory Syndrome (FCAS), (previously termed Familial Cold Urticaria), Muckle-Wells Syndrome (MWS) and Neonatal-Onset Multisystem Inflammatory Disease (NOMID), which also is referred to as Chronic Infantile Neurologic Cutaneous Articular Syndrome (CINCA).

Familial Cold Autoinflammatory Syndrome is the most common and least severe type.
* Symptoms: Rash, headache, fever, feeling tired, sore or red eyes, and muscle or joint pain
* Onset of symptoms: At birth or, rarely, later in childhood
* Trigger of symptoms: Exposure to cold temperature
* Duration of symptoms: Typically last no more than 24 hours

Muckle-Wells Syndrome is more severe than FCAS.
* Symptoms: Those symptoms listed above, as well as loss of hearing. High protein levels are detected during screening and are a sign of the disease
* Onset of symptoms: At birth or, rarely, later in childhood
* Trigger of symptoms: Exposure to cold temperature, weakness of the body, or other reasons that are not yet known
* Duration of symptoms: Usually last between 1 and 3 days

Neonatal-Onset Multisystem Inflammatory Disease is the most severe type.
* Symptoms: All of the above mentioned symptoms, as well as loss of eyesight, swelling of the knees, and mental disability
* Onset of symptoms: Almost always at birth
* Trigger of symptoms: Reasons that are not yet known
* Duration of symptoms: Continuous with symptoms worsening from time to time

Diagnosis of CAPS is often missed due to the rarity of these conditions (low index of suspicion). Furthermore, some symptoms of CAPS may be similar to findings of more common diseases such as systemic JIA and systemic lupus erythematosus. Some features of FCAS may be mistaken for Acquired Cold Urticaria (ACU), a more prevalent condition. Both demonstrate cold-induced rash; however, in ACU, the rash is usually localized to sites of direct cold exposure, whereas in FCAS, the inflammation is more generalized, being systemic in nature.

Cryopyrin-Associated Periodic Syndromes are a rare and newly discovered group of autosomal-dominant disorders that can best be diagnosed through analysis of family history, compilation of clinical history, including age of primary presentation and frequency/duration of episodes, physical examination, laboratory and histological testing, and genetic analysis. Not all CAPS patients have detectable genetic mutations.

Are you or other family members troubled by recurring rashes, fevers, aching joints, and other symptoms? It’s time to take action. Learn about CAPS – Cryopyrin-Associated Periodic Syndromes, a group of rare genetic diseases that runs in families and can be passed down through generations at CapsFamilyConnections.com. Take a few minutes to complete the screener. Your answers can help you take a more active role in your medical care, and that of others.

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