Familial Cold Autoinflammatory Syndrome (FCAS)
What is familial cold autoinflammatory syndrome?
Familial cold autoinflammatory syndrome (FCAS) is a rare, genetic, inflammatory disorder. Those affected by this syndrome experience episodes of rash, fever, and joint pain, which are triggered by exposure to the cold. It falls into the group of cryopyrin associated periodic syndromes (CAPS).
The onset of this disorder occurs during infancy. Because it is a newly discovered disease, the incidence is unknown.
What are the symptoms of familial cold autoinflammatory syndrome?
The symptoms of this disorder only present themselves after one has been exposed to cold. It will take an hour or two for symptoms to arise, and they will usually last for less than 24 hours.
Symptoms can vary in severity. They include rashes, fevers, fatigue, chills, joint pain, and conjunctivitis. These are the most common symptoms, but people may also experience profuse sweating, drowsiness, headache, extreme thirst, red eyes, blurred vision, eye pain, watering eyes, and nausea.
What causes familial cold autoinflammatory syndrome?
Mutations in the CIAS1/NLRP3 gene result in FCAS. It is responsible for the production of the protein cryopyrin. The mutation causes an increased production of the protein, which regulates inflammation in the body. The mutation is inherited in an autosomal dominant pattern.
How is familial cold autoinflammatory syndrome diagnosed?
A diagnosis requires doctors to rule out similar conditions, such as acquired cold urticaria. They do so through the following criteria:
- A family history of the disease
- Recurrent episodes of fever and rash after exposure to the cold
- Onset of less than six months of age
- Episodes lasting less than 24 hours
- No swelling eyes or lymph nodes
- Absence of serositis
Doctors will perform a clinical exam and genetic testing to confirm a diagnosis.
What are the treatments for familial cold autoinflammatory syndrome?
Doctors will prescribe non-steroidal anti-inflammatory drugs for joint pain. There are also FDA approved treatments for this syndrome, such as arcalyst, ilaris, and kineret.