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Introduction to Cryopyrin Associated Periodic Syndromes (CAPS)
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Cryopyrin-Associated Periodic Syndromes (CAPS) are members of a growing family of autoinflammatory diseases, which were originally referred to as Hereditary Periodic Fever Syndromes. The three known types of CAPS syndromes that have been identified at this time are: Familial Cold Autoinflammatory Syndromes (FCAS)-also known as Familial Cold Urticaria (FCU); Muckle-Wells Syndrome (MWS); and Neonatal-Onset Multisystemic Inflammatory Disease (NOMID)-also known as Chronic Infantile Neurological Cutaneous Articular Syndrome (CINCA) in many European Countries.
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Cryopyrin-Associated Periodic Syndromes are Autoinflammatory Diseases
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Cryopyrin-Associated Periodic Syndromes (CAPS) are members of a growing family of autoinflammaoty diseases, which were originally referred to as Hereditatry Periodic Fever Syndromes. Autoinflammatory diseases are caused by genetic mutations in molecules that are involved in regulating the innate immune response-a "hard wired" defense system that evolved to quickly recognize and act against infectious agents and other danger signals produced by our bodies. It is important not to confuse autoinflammatory syndromes with autoimmune diseases, such as: Lupus, Rheumatoid Arthritis and others that are caused by the body's adaptive immune system developing antibodies to antigens that then attack healthy body tissues.
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Mutations in the CIAS1 Gene Cause CAPS
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CAPS diseases are associated with mutations or misspellings in the Cold-Induced Autoinflammatory Syndrome 1 (CIAS1) gene, also known as the NLRP3, NALP3 or PYPAF1 gene. CIAS1 encodes cryopyrin, which belongs to an emerging family of danger sensors, called NLRs (NOD-like receptors). When triggered by a danger signal, cryopyrin assembles with other molecules to coordinate an inflammatory response that leads to increased Interleukin-1ß (IL-1ß) production to help fight off infections. This sensing and coordinating unit is called an "inflammasome." A mutation of the CIAS1 gene causes the cryopyrin inflammasome to constantly overproduce IL-1ß instead of producing IL-1ß only in response to infections. This overproduction of IL-1ß causes many CAPs symptoms to be present at birth or in early infancy, and persist or increase throughout life. Rashes, fevers, joint pain, headaches, conjuncitivitis and many other symptoms are noted in CAPS disorders. The CIAS1 genetic mutation is autosomal dominant, so only one misspelled gene is needed in an person's DNA to cause CAPS. Misspellings of the CIAS1 gene can occur spontaneously at conception, as is often the case with NOMID, but in FCAS and MWS, the gene mutation is usually passed down by one affected parent for many generations.
Medication Treatment for CAPS
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Varying Severity of Symptoms within CAPS
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CAPS disorders are often considered to be varying degrees of severity of the same syndrome within the CIAS1 genetic mutation region. If you consider all the syndromes within CAPS as the same disorder, with FCAS at the low end of severity, and NOMID/CINCA at the high end, Muckle-Wells falls in the middle region on this disease spectrum. Many patients have overlapping symptoms along the CAPS disease spectrum between each classification of FCAS, MWS and NOMID, yet it is important to look at the classic findings for each of the syndromes to understand how these syndromes are very similar, yet unique. The most common finding between all the CAPS syndromes is the rash, fevers and symptoms in early infancy or at birth. Other common symptoms include: Flares of increased symptoms with the fevers and rash, joint pain, conjunctivitis, headaches, general malise. In the case of all patients with FCAS and in some MWS and NOMID patients, the symptoms can increase with exposure to cold weather, or even cold exposure of any kind.
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Muckle Wells Syndrome (MWS)
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What is Muckle-Wells Syndrome?
MWS Symptoms
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FCAS/FCU Syndrome
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What is Familial Cold Autoinflammatory Syndrome (FCAS), also known as Familial Cold Urticaria (FCU)?
FCAS Syndrome
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Current Treatments for CAPS
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Now that the genetic mutation and cause for CAPS has been found, better treatments have been discovered, or are being developed that target the main source of inflammation-the over-production and oversecretion of Interleukin 1ß (IL-1ß) by altered cryopyrin inflammasomes.
Medication Treatment for CAPS
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