Familial Cold Autoinflammatory Syndrome Details

Expanded Description

Familial Cold Autoinflammatory Syndrome (FCAS) is a rare inflammatory disorder characterized by fever, rash and arthralgias (joint pain), headaches, conjunctivitis (eye redness and irritation.) FCAS is one of the Cryopyrin-Associated Periodic Syndromes (CAPS), which also include Muckle-Wells Syndrome (MWS) and Neonatal-Onset Multisystem Inflammatory Disease(NOMID) also known as CINCA.

Symptoms caused by CAPS can start to develop within a few hours of generalized exposure to cold or cooling temperatures, or even a change in temperature, including entering heavily air conditioned environments. Many patients have symptoms almost every day. Many symptoms, especially the rashes and fever are often present at birth, or in early infancy in most patients, and persist throughout the lifespan.

There can be large family groups with FCAS extending back many generations, as the genetic mutation is autosomal dominant, which means that only one parent carrying the mutation can pass the gene onto their offspring.

Prevalence

1.0 ( Cases ) [Source]

Causes

This rare autoinflammatory disease is caused by a genetic mutation or mis-spellings in the CIAS1 gene, also known as the NLRP3, NALP3 or PYPAF gene that encodes cryopyrin. A mutation of the CIAS1 gene causes the cryopyrin inflammasome to constantly overproduce Intereukin 1 ß (IL-1ß), instead of only being activated in resopnse to infections in the body. This constant over-production of IL-1ß leads to the development of various CAPS symptoms.

Disorder Symptoms

There are several symptoms that affect patients with Familial Cold Autoinflammatory Syndrome.

Name	Description
Fever and Chills	Fever and Chills
Eye Pain and Redness	Eye Pain and Redness
Joint Pain	Joint Pain
Rash	Rash
Fatigue	Fatigue

Diagnosis

No diagnosis information has been added yet.

Diagnostic Tests

No diagnostic test information has been added yet.

We don't have any tests yet.

Disorder Treatments

The U.S. Food and Drug Administration (FDA) in 2009 approved ILARIS (Canakinumab) Injection for Subcutaneous Use with one dose every 8 weeks for the treatment of Cryopyrin-Associated Periodic Syndromes (CAPS), including Familial Cold Auto-inflammatory Syndrome (FCAS) and Muckle-Wells Syndrome (MWS) in adults and children over the age of 4.

The U.S. Food and Drug Administration (FDA) has approved ARCALYST (Rilonacept) Injection for Subcutaneous Use as a weekly dose for the treatment of Cryopyrin-Associated Periodic Syndromes (CAPS), including Familial Cold Auto-inflammatory Syndrome (FCAS) and Muckle-Wells Syndrome (MWS) in adults and children 12 and older.

Other treatments include other drugs that prevent the cellular signalling of IL-1ß in CAPS patients, but they are being prescribed in an “off-lable” fashion at this time, or used in research studies.

Name
ARCALYST (rilonacept)

Prognosis

With the proper medication treatments currently available, most patients have found that their symptoms are well-controlled, and mast with FCAS have a normal, or near-normal life expectancy, and have gone on to marry and have children.. FCAS patients can have lifelong inflammation that often does not cause a great deal of permanent damage, despite constant pain and inflammation, but a few FCAS patients have experienced amyloidosis, and changes in their hearing. Patients with Muckle Wells (MWS) and NOMID forms of CAPS often sustain more significant and permanent damage in their bodies if left untreated with current medical treatments.

Tips for Living with the Disorder

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