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Familial Cold Autoinflammatory Syndrome

What is Familial Cold Autoinflammatory Syndrome?

Familial Cold Autoinflammatory Syndrome is a rare inflammatory disorder characterized by fever, rash and arthralgia after generalized exposure to cold temperatures.

 

Familial Cold Autoinflammatory Syndrome is a rare inflammatory disorder characterized by fever, rash and arthralgia after generalized exposure to cold temperatures.
Synonyms for Familial Cold Autoinflammatory Syndrome has not been added yet.
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.
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 of Familial Cold Autoinflammatory Syndrome has not been added yet.
Diagnostic tests of Familial Cold Autoinflammatory Syndrome has not been added yet
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.
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 or Suggestions of Familial Cold Autoinflammatory Syndrome has not been added yet.
References of Familial Cold Autoinflammatory Syndrome has not been added yet.
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Community Resources
Title Description Date Link
NOMID Alliance

Non-profit charity devoted to CAPS diseases

03/20/2017

Clinical Trials


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Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

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