Summary about Disease
Familial Cold Autoinflammatory Syndrome (FCAS), also known as familial cold urticaria, is a rare genetic autoinflammatory disease characterized by recurrent episodes of rash, fever, joint pain, and other flu-like symptoms triggered by exposure to cold temperatures. It is one of a group of conditions called cryopyrin-associated periodic syndromes (CAPS).
Symptoms
Urticaria (hives) – red, itchy welts on the skin
Fever or chills
Joint pain (arthralgia)
Muscle pain (myalgia)
Conjunctivitis (red, irritated eyes)
Headache
Fatigue
Nausea
Causes
FCAS is caused by a mutation in the NLRP3 gene (also known as *CIAS1*), which provides instructions for making a protein called cryopyrin. Cryopyrin is involved in the regulation of inflammation. The mutation leads to an overactive inflammasome, resulting in excessive production of interleukin-1beta (IL-1β), a protein that promotes inflammation. FCAS is inherited in an autosomal dominant pattern, meaning only one copy of the mutated gene is needed to cause the disorder.
Medicine Used
IL-1β Inhibitors: Anakinra, canakinumab, and rilonacept are medications that block the activity of interleukin-1beta (IL-1β). These are the primary treatments for FCAS.
Nonsteroidal Anti-inflammatory Drugs (NSAIDs): May be used to manage milder symptoms like joint pain and fever.
Corticosteroids: Rarely used for long-term management due to side effects, but may be considered for severe acute flares.
Antihistamines: While FCAS presents with hives, it is not an allergic reaction. Antihistamines are typically ineffective and should not be used for treatment.
Is Communicable
No, FCAS is not communicable. It is a genetic disorder and cannot be spread from person to person.
Precautions
Avoid Cold Exposure: The most important precaution is to avoid or minimize exposure to cold temperatures. This includes cold weather, cold water, and cold objects.
Dress Appropriately: Wear warm clothing in cold weather, including layers, gloves, and a hat.
Monitor Weather: Be aware of the weather forecast and avoid outdoor activities when it is cold.
Warm Environment: Maintain a warm environment at home and at work.
Genetic Counseling: Families with FCAS may benefit from genetic counseling to understand the risk of passing the condition on to future generations.
How long does an outbreak last?
Symptoms typically appear within minutes to hours after cold exposure and can last for approximately 12-24 hours.
How is it diagnosed?
Clinical Evaluation: Diagnosis is based on a clinical evaluation, including a detailed medical history and physical examination. Key diagnostic features include cold-induced urticaria and other symptoms.
Cold Stimulation Test: A cold stimulation test may be performed, where a small area of skin is exposed to cold to see if it triggers a reaction.
Genetic Testing: Genetic testing for mutations in the NLRP3 gene can confirm the diagnosis.
Inflammatory Markers: Blood tests to measure inflammatory markers, such as C-reactive protein (CRP) and serum amyloid A (SAA), may be elevated during flares.
Timeline of Symptoms
Exposure to Cold: The trigger.
Minutes to Hours: Onset of symptoms, typically starting with urticaria.
Several Hours: Development of other symptoms like fever, joint pain, and fatigue.
12-24 Hours: Duration of the episode. Symptoms gradually resolve after this period.
Important Considerations
Early Diagnosis and Treatment: Early diagnosis and treatment with IL-1β inhibitors can significantly improve the quality of life for individuals with FCAS and reduce the risk of long-term complications.
Individual Variability: The severity of FCAS can vary among individuals, even within the same family.
Comorbidities: Untreated or poorly managed FCAS can potentially lead to long-term complications, such as amyloidosis (deposition of abnormal protein in organs).
Specialist Care: Management of FCAS typically requires consultation with a rheumatologist, immunologist, or geneticist experienced in autoinflammatory diseases.