familial cold autoinflammatory syndrome 4

Familial cold autoinflammatory syndrome (FCAS) is a rare genetic disorder that affects how your body controls inflammation. Symptoms are triggered by exposure to the cold, and can include episodes of fever, rash, and joint pain.

Key symptoms:

• Episodes of fever
• Rash that develops after exposure to cold
• Joint pain

These symptoms can occur recurrently, often in response to generalised exposure to cold. The exact cause of FCAS is not fully understood, but it is believed to be related to a genetic mutation affecting the body's inflammatory response.

References:

• [4] - FCAS is a rare genetic disorder. It affects how your body controls inflammation. Symptoms are triggered by exposure to the cold, ...
• [8] - The familial cold autoinflammatory syndrome (FCAS) is an unusual autosomal dominant disorder characterized by recurrent episodes of rash, arthralgia, and fever ...

Familial Cold Autoinflammatory Syndrome (FCAS) 4 Signs and Symptoms

FCAS 4, also known as Familial Cold Autoinflammatory Syndrome, is a rare hereditary periodic fever syndrome characterized by episodes of fever and cold-induced urticaria-like rash. The symptoms can vary from person to person but often include:

• Rash: A urticaria-like skin rash that appears soon after birth or in early infancy, affecting 100% of patients [3].
• Fever and chills: Low-grade fever (93%) and chills are common during episodes [6].
• Joint pain: Polyarthralgia (96%), which is joint pain affecting multiple joints, is a frequent symptom [6].
• Other symptoms: Conjunctivitis in the eyes, sweating, fatigue, headaches, generalized pains, and nausea can also occur during episodes [5].

These symptoms are usually triggered by cold exposure and can last less than 24 hours. It's essential to note that FCAS 4 is a rare condition, and not much information is available about it.

References: [1] - Not applicable (search results do not contain relevant information) [2] - Not applicable [3] Context result 3: Rash (100%): Often the first sign of FCAS, appearing soon after birth or in early infancy · Fever and chills (93%) · Arthralgia and myalgias (96%) [4] - Not applicable [5] Context result 5: Most symptoms during an episode last less than 24 hours, and can also include conjunctivitis in the eyes, sweating, fatigue, headaches, generalized pains, ... [6] Context result 6: FCAS flares are triggered by cold exposure, and patients present with low-grade fever (93%), polyarthralgia (96%), and urticarial rash (100%), often starting ...

Diagnostic Tests for Familial Cold Autoinflammatory Syndrome 4 (FCAS4)

Familial cold autoinflammatory syndrome 4 (FCAS4) is a rare hereditary periodic fever syndrome, and its diagnosis can be challenging. However, several diagnostic tests are available to confirm the condition.

• DNA Gene Analysis: This test involves analyzing the DNA of an individual to identify mutations in the NLRP1 gene, which is associated with FCAS4 [5]. The sensitivity of this test may be reduced if DNA is extracted by a laboratory other than Blueprint Genetics [5].
• Sequencing of NALP3: Sequencing of the NALP3 gene can also confirm the diagnosis of FCAS4, although some patients without mutations have been reported [4].
• Clinical Evaluation: A clinical evaluation based on symptoms such as episodic febrile attacks and rash following generalized cold exposure is essential for diagnosing FCAS4 [7]. This evaluation should include a full medical history from birth onwards, lab tests, a skin biopsy, and genetic testing for NLRP3 and other autoinflammatory diseases.
• Genetic Testing: Genetic testing for NLRP1 and other associated genes can help confirm the diagnosis of FCAS4. However, it is essential to note that genetic testing may not be 100% sensitive, and a clinical diagnosis based on symptoms is still necessary [8].

References:

[4] DHM Hoffman · 2001 · Cited by 406 — Biological diagnostic methods. [5] The Blueprint Genetics Autoinflammatory Syndrome Panel (test code IM0201): ... [7] Diagnosis of FCAS is primarily clinical, based on a history of episodic febrile attacks and rash following generalised cold exposure. Due to the autosomal ... [8] Integrated disease information for Familial Cold Autoinflammatory Syndrome 4 including associated genes, mutations, phenotypes, pathways, drugs, ...

Treatment Options for Familial Cold Autoinflammatory Syndrome (FCAS)

Familial cold autoinflammatory syndrome (FCAS) is a rare hereditary periodic fever syndrome characterized by infantile or childhood onset of episodes of fever and cold-induced urticaria-like rash and arthritis. The mainstay of treatment has evolved over the years, with a focus on blocking the effects of interleukin-1 beta (IL-1β).

• Interleukin-1 (IL-1) Blocking Therapy: This is now the recommended standard of care for FCAS. Biological treatments such as anakinra (Kineret) and rilonacept have been found to be effective in reducing symptoms and improving quality of life.
• Small-Molecule Inhibitors: A small-molecule inhibitor of the NLRP3 inflammasome has also shown promise in treating FCAS. This treatment targets a different aspect of the inflammatory response, providing an alternative option for patients who do not respond to IL-1 blocking therapy.

Other Treatment Options

While these treatments have been found to be effective, it's essential to note that each patient may respond differently to various therapies. A combination of treatments or a tailored approach may be necessary to manage symptoms effectively.

• High-Dose Corticosteroids: Although not the primary treatment for FCAS, high-dose corticosteroids can be used in some cases to help manage symptoms.
• Supportive Care: Supportive care with warming treatments and non-steroidal anti-inflammatory drugs (NSAIDs) may also be necessary to alleviate symptoms.

References

• [3] Interleukin 1 (IL-1) blocking therapy is now the recommended standard of care for FCAS. These biological treatments block the effect of IL-1β on the IL-1 receptor, reducing inflammation and alleviating symptoms.
• [5] Currently, the best treatments found to help many sufferers of MWS have been the use of various Interleukin-1 blocking, trapping or otherwise attacking therapies.
• [8] Drugs used to treat Familial Cold Autoinflammatory Syndrome; Generic name: rilonacept systemic; Drug class: interleukin inhibitors; For consumers:
• [9] A rare hereditary periodic fever syndrome characterized by infantile or childhood onset of episodes of fever and cold-induced urticaria-like rash and arthritis.

Differential Diagnosis of Familial Cold Autoinflammatory Syndrome (FCAS)

Familial cold autoinflammatory syndrome (FCAS) is a rare autosomal dominant autoinflammatory disease that presents with episodic rash, fever, arthralgias, and fatigue upon generalized exposure to the cold. When considering a differential diagnosis for FCAS, several conditions should be taken into account.

Conditions to Consider:

• Cryopyrin-associated periodic syndromes (CAPS): A group of conditions that have overlapping signs and symptoms and the same genetic cause as FCAS [5].
• Neonatal-onset multisystem inflammatory disease (NOMID), also known as chronic infantile neurologic cutaneous articular (CINCA): A rare hereditary periodic fever syndrome with characteristics of infantile or childhood onset of episodes of fever and cold-induced urticaria-like rash and arthralgia [2].
• Muckle-Wells syndrome: A rare autosomal dominant autoinflammatory disease that presents with episodic rash, fever, arthralgias, and fatigue upon generalized exposure to the cold, similar to FCAS [9].

Other Conditions to Consider:

• Infectious diseases: Such as sepsis or meningitis, which can present with fever and rash.
• Malignant disorders: Such as lymphoma or leukemia, which can cause fever and fatigue.
• Autoimmune disorders: Such as lupus or rheumatoid arthritis, which can cause fever and joint pain.

Key Points to Consider:

• The presence of episodic rash, fever, arthralgias, and fatigue upon generalized exposure to the cold is a key feature of FCAS [11].
• A genetic mutation on the NLRP3 (CIAS1) gene that codes for the protein cryopyrin is associated with FCAS [15].

References:

[2] - Context result 2 [5] - Context result 5 [9] - Context result 9 [11] - Context result 11 [15] - Context result 15