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 exposed to cold air. These symptoms usually subside after the exposure to cold air ends but reoccur in the form of recurrent attacks. Familial cold autoinflammatory syndrome is a part of a group of diseases called familial cold urticaria. Since FCAS has a genetic basis, treatment is usually done with medications that reduce inflammation. The response to treatment may 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 signal molecules that cause inflammation in the body. As a result, FCAS patients experience symptoms when exposed to triggers such as cold air. Since the cause of familial cold autoinflammatory syndrome is these genetic mutations, the disease often includes a family history. Due to the genetic basis of familial cold autoinflammatory syndrome, genetic tests can be performed and risk factors can be identified by examining the family history of individuals with this disease.
Symptoms of Familial Cold Autoinflammatory Syndrome
The symptoms of familial cold autoinflammatory syndrome include recurrent fever attacks that occur after exposure to cold air:
- fever
- chills
- joint pain
- skin rashes
- headache
- 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 tests:
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 Tests: Genetic tests may be required for the definitive diagnosis of FCAS.
Inflammation Markers: Doctors may 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 drugs can be used to relieve pain and reduce fever during fever attacks.
Monitoring Inflammation Markers: Inflammation markers in patients should be regularly monitored.
Genetic Counseling: Individuals with a family history should receive genetic counseling to assess the genetic risk of the disease.
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 Therapy: 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 cold exposure.
Genetic Counseling: FCAS is a genetic disease, and genetic counseling is recommended for individuals with a family history.
Healthy Nutrition and Exercise: Good nutrition 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 therapy by their doctors.
