Muckle Wells syndrome is a rare genetic condition that causes recurring attacks of fever and inflammatory symptoms throughout the body. It belongs to a group of diseases known as autoinflammatory diseases. In this article, we will provide an overview of Muckle Wells syndrome - what causes it, symptoms, diagnosis and treatment options available.

What is Muckle Wells Syndrome?

Muckle Wells syndrome, also known as familial cold autoinflammatory syndrome 3 (FCAS3), is an inherited disease in which the body's own immune system causes inflammation in various parts of the body. It is caused by mutations in the CIAS1 gene, which provides instructions for making a protein called cryopyrin. Mutations in this gene lead to uncontrolled and recurring attacks of fever and systemic inflammation. It was first described by the British dermatologist James Muckle in 1962, hence the name Muckle Wells syndrome.

Muckle Wells syndrome is classified as an autoinflammatory disease as the inflammation occurs spontaneously without infection or autoimmunity. These disorders are caused by dysfunction of the innate immune system which is the body's first line of defense against pathogens. The mutated cryopyrin protein leads to overactivation of IL-1beta, a pro-inflammatory cytokine, triggering excessive inflammation.

Understanding Muckle Wells Syndrome - https://www.coherentmi.com/blog/understanding-muckle-wells-syndrome-38