Symptoms may begin anywhere between 10 minutes to 8 hours after cold exposure. Fever attacks may last a few hours up to three days. Most people with familial cold autoinflammatory syndrome experience their first fever attack within the first year of life, many within the first day of life. Episodes continue to occur throughout life.[1]
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Arthritis | 90% |
| Hyperhidrosis | 90% |
| Myalgia | 90% |
| Pruritus | 90% |
| Subcutaneous hemorrhage | 90% |
| Urticaria | 90% |
| Migraine | 50% |
| Nausea and vomiting | 50% |
| Arthralgia | 7.5% |
| Dehydration | 7.5% |
| Sensorineural hearing impairment | 7.5% |
| Renal amyloidosis | 5% |
| Autosomal dominant inheritance | - |
| Conjunctivitis | - |
| Episodic fever | - |
| Infantile onset | - |
| Leukocytosis | - |
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Autoinflammation 2013: The Seventh International Congress of FMF and Autoinflammatory Diseases Wednesday, May 22, 2013 -
Sunday, May 26, 2013
Location:
Lausanne,
Switzerland
Description: The goals of this meeting include the exchange of clinical and scientific information regarding the autoinflammatory diseases. This is likely to result in improvements in the diagnosis and treatment of these diseases. Past Congresses have resulted in new scientific collaborations, development of registries for patients with specific autoinflammatory disorders, and the initiation of multicenter clinical trials.
Contact: Daniel Kastner, M.D., Ph.D., 301-496-8364kastnerd@nih.gov
Co-funding Institute(s): National Human Genome Research Institute, Office of Rare Diseases Research
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I have the syndrome, as did my mother, my second brother, and his oldest son. I had biopsies taken of the so-called hives and were told that they were neutrophiles from the blood. Is it common to have so many in one family to have this syndrome? Also, how often does it skip a generation? See answer
My daughter was recently diagnosed with familial cold autoinflammatory syndrome. I have many questions and concerns. Can you refer me to valid useful information? See answer
