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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Familial cold autoinflammatory syndrome


Other Names for this Disease

  • Familial cold urticaria
  • Familial polymorphous cold eruption
  • FCAS
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Symptoms

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What are the signs and symptoms of familial cold autoinflammatory syndrome?

Signs and symptoms of familial cold autoinflammatory syndrome may include rash, fever, and joint pain triggered by exposure to cold temperatures. The rash often begins on exposed arms and legs and extends to the remainder of the body. The rash may consist of red macules and plaques, hives (urticaria), and petechiae. The skin rash can cause burning or itching. Conjuctivitis during a fever episode is also common. Other symptoms can include swelling, muscle pain, profuse sweating, drowsiness, headache, extreme thirst, and nausea.[1]

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]

Last updated: 11/1/2013

The Human Phenotype Ontology provides the following list of signs and symptoms for Familial cold autoinflammatory syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of temperature regulation 90%
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%
Inflammatory abnormality of the eye 7.5%
Renal amyloidosis 5%
Arthralgia -
Autosomal dominant inheritance -
Conjunctivitis -
Episodic fever -
Headache -
Infantile onset -
Leukocytosis -
Myalgia -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Simon A, Van Der Meer S, Drenth J. Familial autoinflammatory syndromes. In: Harris et al.,. Harris: Kelley's Textbook of Rheumatology, 7th ed. Philadelphia, PA: Saunders; 2005;


Other Names for this Disease
  • Familial cold urticaria
  • Familial polymorphous cold eruption
  • FCAS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.