Familial Cold Autoinflammatory Syndrome

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Familial Cold Autoinflammatory Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Familial cold autoinflammatory syndrome (FCAS), also known as familial cold urticaria, is a rare, inherited inflammatory disorder characterized by intermittent episodes of rash, fever, joint pain and other signs/symptoms of systemic inflammation triggered by exposure to cold. Onset of FCAS occurs during infancy and early childhood and persists throughout the patient's life.

FCAS is one of the cryopyrin associated periodic syndromes (CAPS) caused by mutations in the CIAS1/NLRP3 gene. These syndromes are characterized by fever, rash, and joint pain. As in other CAPS, amyloidosis can rarely develop later in life in FCAS patients. Amyloidosis is due to an abnormal accumulation of the protein amyloid in a patient's tissues and organs such as the kidneys where it results in damage and often kidney failure if untreated.

FCAS shares symptoms, and should not be confused, with acquired cold urticaria, a more common condition mediated by different mechanisms that usually develops later in life and is rarely inherited.

Supporting Organizations

Autoinflammatory Alliance

P.O. Box 590354
San Francisco, CA 94118
Tel: (415)831-8782
Email: karen@autoinflammatory.org
Website: http://autoinflammatory.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

NIH/Office of Rare Disease Research

6701 Democracy Boulevard
Suite 1001, MSC 4874
Bethesda, MD 20892-7518
Tel: (301)402-4336
Fax: (301)480-9655
Email: ordr@od.nih.gov
Website: http://rarediseases.info.nih.gov

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  6/29/2015
Copyright  2011 National Organization for Rare Disorders, Inc.