Familial cold autoinflammatory syndrome (FCAS) is a genetic disorder that causes recurrent fever attacks triggered by exposure to cold air. FCAS is associated with mutations in the NLRP3 gene. Patients with FCAS experience symptoms such as fever, chills, joint pain, and skin rashes when in contact with cold air. These symptoms usually subside after the exposure to cold air ends, but they can reoccur in the form of repeated attacks. Familial cold autoinflammatory syndrome is part of a group of disorders called familial cold urticaria. As FCAS has a genetic basis, treatment is often done with medications that aim to reduce inflammation. The response to treatment can vary depending on the type of mutation and the severity of the disease.
Causes of Familial Cold Autoinflammatory Syndrome
The main cause of familial cold autoinflammatory syndrome is mutations in the NLRP3 gene. These mutations lead to uncontrolled activation of the inflammasome, which can result in the release of chemical signaling molecules that cause inflammation in the body. As a result, FCAS patients experience symptoms when exposed to triggers such as cold air. Due to the genetic mutations being the cause of familial cold autoinflammatory syndrome, the disease often includes a family history. Genetic tests can be conducted and risk factors can be identified by examining the family history of individuals with this condition.
Symptoms of Familial Cold Autoinflammatory Syndrome
Symptoms of familial cold autoinflammatory syndrome include recurrent fever attacks that occur after contact with cold air:
- fever
- chills
- joint pain
- skin rashes
- headaches
- diarrhea or abdominal pain
Diagnosis of Familial Cold Autoinflammatory Syndrome
The diagnosis of familial cold autoinflammatory syndrome is usually made through clinical evaluation, examination of symptoms, and genetic testing:
Clinical Evaluation: The doctor begins by carefully examining the patient’s symptoms.
Physical Examination: The doctor evaluates the physical findings that occur during or after fever attacks.
Genetic Testing: Genetic testing may be necessary for a definitive diagnosis of FCAS.
Inflammation Markers: Doctors can also measure inflammation markers in the patient’s blood.
Cold Challenge Test: In some cases, doctors may perform a cold challenge test.
Treatment of Familial Cold Autoinflammatory Syndrome
The treatment of familial cold autoinflammatory syndrome can vary depending on the severity and frequency of symptoms:
IL-1 Beta Inhibitors: IL-1 beta inhibitors help reduce inflammation by blocking the effect of the inflammatory mediator.
Avoiding Cold: FCAS patients should try to avoid cold air and wind as they can trigger symptoms.
Pain and Fever Medications: Analgesics or antipyretic medications can be used to relieve pain and reduce fever during attacks.
Monitoring Inflammation Markers: Inflammation markers should be regularly monitored in patients.
Genetic Counseling: Individuals with a family history of FCAS can assess their genetic risk through genetic counseling.
Management of Familial Cold Autoinflammatory Syndrome
The management of familial cold autoinflammatory syndrome requires a careful approach to control symptoms, improve the patient’s quality of life, and prevent disease progression:
Medication: IL-1 beta inhibitors help alleviate symptoms by reducing inflammation.
Symptom Monitoring: Patients and healthcare professionals should monitor the frequency and severity of symptoms.
Avoiding Cold: FCAS symptoms can be triggered by cold air, so patients should avoid exposure to cold.
Genetic Counseling: FCAS is a genetic disease, and genetic counseling is recommended for individuals with a family history.
Healthy Diet and Exercise: A healthy diet and regular exercise are important to support overall health.
Doctor Follow-up: FCAS patients live with a chronic condition that requires regular monitoring of symptoms and management of medication by their doctors.
