Learn About Muckle-Wells Syndrome

What is the definition of Muckle-Wells Syndrome?

Cryopyrin-associated periodic syndromes (CAPS) are a group of conditions that have overlapping signs and symptoms and the same genetic cause. The group includes three conditions known as familial cold autoinflammatory syndrome type 1 (FCAS1), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disorder (NOMID). These conditions were once thought to be distinct disorders but are now considered to be part of the same condition spectrum. FCAS1 is the least severe form of CAPS, MWS is intermediate in severity, and NOMID is the most severe form.

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What are the causes of Muckle-Wells Syndrome?

CAPS are caused by variants (also known as mutations) in the NLRP3 gene. The NLRP3 gene provides instructions for making a protein called cryopyrin. Cryopyrin is a member of a family of proteins called intracellular "NOD-like" receptor (NLR) proteins. These proteins are involved in the immune system, helping to regulate the process of inflammation. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight foreign invaders and help repair damaged tissues. After this has been accomplished, the body stops (inhibits) the inflammatory response to prevent damage to its own cells and tissues. Cryopyrin is involved in the assembly of a molecular complex called an inflammasome, which helps trigger the inflammatory process.

How prevalent is Muckle-Wells Syndrome?

CAPS are rare, with an estimated prevalence of 2 to 5 per million individuals, collectively. However, it is thought that the conditions are underdiagnosed since the features of CAPS are similar to other more common conditions.

Is Muckle-Wells Syndrome an inherited disorder?

CAPS are usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. People with the condition are born with one altered copy of the NLRP3 gene in each cell. In most cases, the altered gene is inherited from an affected parent. The remaining cases are a result of new variants in the NLRP3 gene and occur in people with no history of the disorder in their family.

Who are the top Muckle-Wells Syndrome Local Doctors?
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Highly rated in
24
conditions

University Of Tübingen

Pediatric Rheumatology And Autoinflammation Reference Center, Hoppe Seyler Str. 1 
Tuebingen, BW, DE 

Jasmin Deschner-Kuemmerle practices in Tuebingen, Germany. Deschner-Kuemmerle is rated as an Elite expert by MediFind in the treatment of Muckle-Wells Syndrome. She is also highly rated in 24 other conditions, according to our data. Her top areas of expertise are Familial Cold Autoinflammatory Syndrome, Neonatal Onset Multisystem Inflammatory Disease, Muckle-Wells Syndrome, and Familial Mediterranean Fever.

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Highly rated in
18
conditions

Charité University Medicine Berlin

German Rheumatism Research Center, Leibniz Institute 
Berlin, BE, DE 

Tilmann Kallinich practices in Berlin, Germany. Kallinich is rated as an Elite expert by MediFind in the treatment of Muckle-Wells Syndrome. They are also highly rated in 18 other conditions, according to our data. Their top areas of expertise are Neonatal Onset Multisystem Inflammatory Disease, Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, and Familial Mediterranean Fever.

 
 
 
 
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Elite
Highly rated in
37
conditions

Université Paris Sud

Paris, FR 

Isabelle Paut-Kone practices in Paris, France. Paut-Kone is rated as an Elite expert by MediFind in the treatment of Muckle-Wells Syndrome. She is also highly rated in 37 other conditions, according to our data. Her top areas of expertise are Familial Mediterranean Fever, Griscelli Syndrome, Familial Cold Autoinflammatory Syndrome, and Cold Urticaria.

What are the latest Muckle-Wells Syndrome Clinical Trials?
Pathogenesis and Genetic Basis of Physical Induced Urticarial Syndromes
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An Open-label, Single Arm Phase II Study of DFV890 to Assess the Safety, Tolerability and Efficacy in Participants With Familial Cold Auto-inflammatory Syndrome (FCAS)
Who are the sources who wrote this article ?

Published Date: August 17, 2021Published By: National Institutes of Health

What are the Latest Advances for Muckle-Wells Syndrome?
CT-guided Chemical Lumbar Sympathectomy in the Treatment of Cold Hypersensitivity in the Hands and Feet.
Recognising and understanding cryopyrin-associated periodic syndrome in adults.
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Dosage Considerations for Canakinumab in Children With Periodic Fever Syndromes.