familial cold autoinflammatory syndrome 2

Familial cold autoinflammatory syndrome type 2 (FCAS2) is a rare, inherited inflammatory disorder characterized by episodic and recurrent symptoms triggered by exposure to cold temperatures.

Common Symptoms:

• Episodic rash
• Urticaria (hives)
• Arthralgia (joint pain)
• Myalgia (muscle pain)
• Headache
• Fever

These episodes are often accompanied by serologic evidence of inflammation and can occur throughout life, typically beginning in infancy. The symptoms usually develop within 1-2 hours after exposure to cold temperatures.

Genetic Heterogeneity:

FCAS2 is an autosomal dominant autoinflammatory disorder, meaning that a single copy of the mutated gene is sufficient to cause the condition. This means that if one parent has FCAS2, each child has a 50% chance of inheriting the condition.

References:

• [1] Familial cold autoinflammatory syndrome-2 (FCAS2) is an autosomal dominant autoinflammatory disorder characterized by episodic and recurrent rash, urticaria, arthralgia, myalgia, and headache. ... (summary by Shen et al., 2017)
• [5] Familial cold autoinflammatory syndrome-2 (FCAS2) is an autosomal dominant autoinflammatory disorder characterized by episodic and recurrent rash, urticaria, arthralgia, myalgia, and headache. ... For a phenotypic description and a discussion of genetic heterogeneity of familial cold autoinflammatory syndrome, see FCAS1 (120100)
• [10] Familial cold autoinflammatory syndrome-2 (FCAS2) is an autosomal dominant autoinflammatory disorder characterized by episodic and recurrent rash, urticaria, arthralgia, myalgia, and headache. In most patients, these episodes are accompanied by fever and serologic evidence of inflammation. Most, but not all, patients report exposure to cold as a trigger for the episodes.
• [12] Familial cold autoinflammatory syndrome-2 (FCAS2) is an autosomal dominant autoinflammatory disorder characterized by episodic and recurrent rash, urticaria, arthralgia, myalgia, and headache. In most patients, these episodes are accompanied by fever and serologic evidence of ...

Common Signs and Symptoms of Familial Cold Autoinflammatory Syndrome Type 2 (FCAS2)

Familial cold autoinflammatory syndrome type 2 is a condition that causes episodes of fever, skin rash, and joint pain. The symptoms can vary from person to person but often include:

• Rash: A skin rash is the most common symptom of FCAS2, appearing as hives or big red areas called patches. This can be accompanied by itching and burning sensations.
• Fever and Chills: Many people with FCAS2 experience fever and chills during episodes.
• Joint Pain (Arthralgia): Joint pain is a common symptom of FCAS2, affecting up to 96% of patients.
• Muscle Aches (Myalgias): Muscle aches are also a frequent symptom of FCAS2.

Other possible symptoms include:

• Recurrent Aphthous Stomatitis: Recurring mouth sores
• Elevated C-Reactive Protein Concentration: Elevated levels of a protein that indicates inflammation in the body
• Erythema Nodosum: A skin condition characterized by red, painful nodules
• Conjunctivitis: Inflammation or infection of the eyes
• Sweating, Fatigue, Headaches, and Generalized Pains: These symptoms can occur during episodes of FCAS2.

Triggers and Duration

FCAS flares are typically triggered by cold exposure. Symptoms during an episode usually last less than 24 hours. However, some people may experience additional features such as abdominal pain, thoracic pain, or sensorineural deafness.

References:

• [1] Aug 12, 2021 — Familial cold autoinflammatory syndrome type 2 is a condition that causes episodes of fever, skin rash, and joint pain.
• [3] Sep 20, 2024 — Here are the most common symptoms you'll get: Rash. FCAS causes hives. Your skin may itch and burn. You may get big red areas called patches ...
• [5] Aug 12, 2021 — Familial cold autoinflammatory syndrome type 2 is a condition that causes episodes of fever, skin rash, and joint pain.
• [7] Most symptoms during an episode last less than 24 hours, and can also include conjunctivitis in the eyes, sweating, fatigue, headaches, generalized pains, ...
• [8] 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 2 (FCAS2)

Familial cold autoinflammatory syndrome 2 is a condition that causes episodes of fever, skin rash, and joint pain. Diagnosing FCAS2 can be challenging, but several diagnostic tests can help confirm the diagnosis.

• Clinical Evaluation: The diagnosis of FCAS2 is primarily clinical, based on a history of episodic febrile attacks and rash following generalized cold exposure [5]. A comprehensive medical history and physical examination are essential to identify the characteristic symptoms of FCAS2.
• Blood Tests: Blood tests may be ordered to check levels of C-reactive protein (CRP) or serum amyloid A protein, which are often higher in people who have FCAS2 [4].
• Genetic Testing: Genetic testing can confirm the diagnosis of FCAS2 by identifying mutations in the NLRP12 gene. This test is available at several centers and can be ordered through a comprehensive genetic evaluation [3].
• Sequencing of NALP3: Sequencing of NALP3 is another diagnostic method that can confirm the diagnosis of FCAS2, although some patients without mutations may still have the condition [3].

It's essential to note that the diagnosis of FCAS2 is primarily clinical and based on a history of episodic febrile attacks and rash following generalized cold exposure. Genetic testing can confirm the diagnosis but is not always necessary.

References:

[1] Familial cold autoinflammatory syndrome type 2 is a condition that causes episodes of fever, skin rash, and joint pain. [4] Blood tests. They may want to check your levels of C-reactive protein or serum amyloid A protein. These are often higher in people who have ... [3] by DHM Hoffman · 2001 · Cited by 406 — Biological diagnostic methods. Sequencing of NALP3 is available at several centers to confirm the diagnosis, but there are some patients without mutations. [5] Jun 29, 2015 — Diagnosis. Diagnosis of FCAS is determined through an evaluation of a patient's symptoms. Confirmation of the diagnosis is achieved through ...

Based on the provided context, it appears that Familial Cold Autoinflammatory Syndrome 2 (FCAS2) is a rare autosomal dominant autoinflammatory disorder characterized by episodic and recurrent rash, urticaria, arthralgia, myalgia, and headache.

Regarding drug treatment for FCAS2, there are several options mentioned in the context:

• Cold avoidance: This is not a medication but rather a lifestyle modification that can help manage symptoms (Source: [3]).
• High dose corticosteroids: These have been effective in treating symptoms, although most patients prefer to avoid them due to side effects (Source: [4]).
• Colchicine: This medication has been found to be effective in treating autoinflammatory disorders, including FCAS2 (Source: [15]).

It's worth noting that the context also mentions Interleukin-1 blocking, trapping or otherwise attacking as a potential treatment for another related condition, but it does not specifically mention this as a treatment for FCAS2 (Source: [8]).

In terms of specific medications used to treat FCAS2, the context mentions prednisone, which resulted in resolution of symptoms in some cases (Source: [13]). However, it's essential to consult with a healthcare professional for personalized advice on managing FCAS2.

References:

[3] - Source: [3] [4] - Source: [4] [8] - Source: [8] [13] - Source: [13] [15] - Source: [15]

Please note that this information is based on the provided context and may not be comprehensive or up-to-date. It's always best to consult with a healthcare professional for accurate and personalized advice.

The differential diagnosis for Familial Cold Autoinflammatory Syndrome 2 (FCAS2) involves considering other conditions that may present with similar symptoms, such as episodes of fever, skin rash, and joint pain. Some of the conditions that should be considered in the differential diagnosis of FCAS2 include:

• Still disease: This is a rare inflammatory disorder that can cause fever, joint pain, and skin rashes.
• Other hereditary periodic fever syndromes (HPFSs): These are a group of rare genetic disorders that can cause recurring episodes of fever, inflammation, and other symptoms. Examples include Muckle-Wells syndrome (MWS) and Familial Mediterranean Fever (FMF).
• Pharyngitis: This is an infection of the throat that can cause fever, sore throat, and swollen lymph nodes.
• PFAPA syndrome: This is a rare genetic disorder that causes recurring episodes of fever, pharyngitis, and other symptoms.

These conditions should be considered in the differential diagnosis of FCAS2 because they can present with similar symptoms. However, it's worth noting that FCAS2 is a distinct condition with its own unique characteristics and genetic mutations.

According to [10], FCAS2 is characterized by episodes of fever, skin rash, and joint pain that can be triggered by exposure to cold temperatures or arise without warning. These episodes typically begin in childhood and persist throughout life.

In addition, [11] notes that FCAS2 should also be considered in the differential diagnosis of PFAPA syndrome, as both conditions share some similar symptoms.

It's essential to consult with a healthcare professional for an accurate diagnosis and treatment plan, as these conditions can have distinct characteristics and require different management strategies.