familial cold autoinflammatory syndrome 3

Familial cold autoinflammatory syndrome 3 (FCAS3) is a rare, autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritus in response to exposure to cold temperatures.

Key Features:

• Autosomal dominant inheritance pattern
• Cold-induced cutaneous urticaria, erythema, and pruritus
• Rare genetic disorder affecting how the body controls inflammation

According to [6], FCAS3 is an autosomal dominant immune disorder characterized by cold-induced cutaneous urticaria, erythema, and pruritus. This condition is triggered by exposure to cold temperatures, which can cause a range of symptoms including:

• Cutaneous urticaria (hives)
• Erythema (redness) of the skin
• Pruritus (itching)

FCAS3 is a rare genetic disorder that affects how the body controls inflammation. According to [8], FCAS is a rare genetic disorder that affects how your body controls inflammation, and symptoms are triggered by exposure to the cold.

References:

[6] Familial cold autoinflammatory syndrome 3 is an autosomal dominant immune disorder characterized by cold-induced cutaneous urticaria, erythema, and pruritus. [8] FCAS is a rare genetic disorder. It affects how your body controls inflammation. Symptoms are triggered by exposure to the cold, ...

Familial cold autoinflammatory syndrome-3 (FCAS-3) is a rare, inherited condition characterized by the development of cutaneous urticaria, erythema, and pruritus in response to cold exposure. The symptoms of FCAS-3 can vary from person to person, but common signs and symptoms include:

• Cold-induced skin rash: A red, itchy, or burning rash that appears on the skin after exposure to cold temperatures.
• Erythema: Redness of the skin due to increased blood flow.
• Pruritus: Itching or burning sensation on the skin.
• Additional immunologic defects: Some individuals with FCAS-3 may experience additional immunologic defects, such as:
  • Antibody deficiency
  • Decreased numbers of B cells
  • Defective B cells
  • Increased infection susceptibility
  • Risk of autoimmune disorders

These symptoms can occur within minutes to hours after exposure to cold temperatures and may last for several hours or days. It's essential to note that the severity and frequency of symptoms can vary greatly from person to person.

References: * [3] Familial cold autoinflammatory syndrome-3 is an autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritus in response to cold exposure. * [7] Familial cold autoinflammatory syndrome-3 is an autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and ... * [13] Familial cold autoinflammatory syndrome 3 is an autosomal dominant immune disorder characterized by cold-induced cutaneous urticaria, erythema, and pruritus. * [14] Familial cold autoinflammatory syndrome-3 is an autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritus in response to cold exposure.

Diagnostic Tests for Familial Cold Autoinflammatory Syndrome 3 (FCAS3)

Familial cold autoinflammatory syndrome 3 (FCAS3) is an autosomal dominant immune disorder characterized by cold-induced cutaneous urticaria, erythema, and pruritus. Diagnostic tests are essential to confirm the diagnosis of FCAS3.

• Clinical Evaluation: The diagnosis of FCAS3 is primarily clinical, based on a history of episodic febrile attacks and rash after exposure to cold air or evaporative cooling [6]. A thorough medical history and physical examination can help identify patients with suspected FCAS3.
• Genetic Testing: Genetic testing is available for FCAS3. A 47 gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion of an autoinflammatory syndrome [5]. This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 117 genes associated with autoinflammatory disorders [8].
• Other Diagnostic Criteria: The diagnosis of FCAS/FCU requires the presence of at least FOUR of the following six criteria:
  • Fever & Rash After Cold Exposure
  • Recurrent, intermittent episodes of fever and rash after exposure to cold air or evaporative cooling
  • Cutaneous urticaria or erythema after exposure to cold air or evaporative cooling
  • Pruritus (itching) after exposure to cold air or evaporative cooling
  • Joint pain or swelling after exposure to cold air or evaporative cooling
  • Abnormal laboratory findings, such as elevated inflammatory markers [10]

These diagnostic tests can help confirm the diagnosis of FCAS3 and rule out other conditions that may present with similar symptoms.

Treatment Options for Familial Cold Autoinflammatory Syndrome (FCAS)

Familial cold autoinflammatory syndrome (FCAS) is a rare hereditary inflammatory disorder that can be effectively managed with various treatment options. According to recent studies and medical guidelines, the following treatments have been found to be beneficial in managing FCAS:

• Interleukin-1 (IL-1) blocking therapy: This is now considered the recommended standard of care for FCAS. IL-1 inhibitors, such as canakinumab, block the effect of IL-1β on the IL-1 receptor, thereby reducing inflammation and symptoms.
• Cold avoidance: While not a medication-based treatment, avoiding cold temperatures can help alleviate symptoms in some individuals with FCAS.
• Medications for symptom management: Various medications, including anti-inflammatory agents, anabolic steroids, high-dose corticosteroids, and colchicine, may be used to manage symptoms such as fever, joint pain, and skin rashes.

It's essential to note that treatment plans for FCAS are highly individualized and may involve a combination of these options. A healthcare professional should be consulted to determine the best course of treatment for each patient.

References:

• [1] Interleukin-1 (IL-1) blocking therapy is now the recommended standard of care for FCAS.
• [3] Treatment for FCAS may include: Cold avoidance.
• [9] Anti-inflammatory agents, anabolic steroids, high-dose corticosteroids, and colchicine have variable effect in these parents.

The differential diagnosis for Familial Cold Autoinflammatory Syndrome 3 (FCAS3) includes several conditions that present with similar symptoms. Some of these conditions are:

• Systemic-onset juvenile idiopathic arthritis: This condition is characterized by episodes of fever, rash, and joint pain, which can be triggered by exposure to cold.
• Rheumatoid arthritis: While not typically associated with cold exposure, rheumatoid arthritis can present with similar symptoms such as joint pain and inflammation.
• Systemic lupus erythematosus: This autoimmune disorder can cause a range of symptoms including fever, rash, and joint pain, although it is not specifically triggered by cold exposure.
• Familial Mediterranean fever: This genetic disorder causes recurring episodes of fever and abdominal pain, which can be similar to the symptoms experienced in FCAS3.
• Pyrin-associated autoinflammation with neutrophilic dermatosis (PAAND): This rare condition presents with skin inflammation and other systemic symptoms that can be similar to those seen in FCAS3.

It's worth noting that a definitive diagnosis of FCAS3 typically requires genetic testing, as it is caused by mutations in the NLRP3 gene. A thorough medical evaluation and consideration of these differential diagnoses are essential for accurate diagnosis and treatment planning.

References:

• [6] Differential diagnosis includes systemic-onset juvenile idiopathic arthritis, rheumatoid arthritis, systemic lupus erythematosus, familial mediterranean fever, ...
• [13] The differential diagnosis of urticarial eruption should include cold urticaria, familial mediterranean fever (FMF), pyrinassociated autoinflammation with neutrophilic dermatosis (PAAND), Majeed syndrome.