MUCKLE-WELLS SYNDROME: CLINICAL ASPECTS, DIAGNOSIS, AND THERAPEUTIC APPROACHES

Abstract

Muckle-Wells syndrome (MW) is a rare, hereditary condition belonging to the group of autoimmune and autoinflammatory diseases. It is primarily characterized by recurrent febrile episodes, skin rashes, arthralgia, and progressive hearing loss. Its etiology is associated with mutations in the NLRP3 gene, which encodes a protein involved in inflammasome activation, leading to the overproduction of inflammatory cytokines such as IL-1. The clinical presentation is variable, with possible renal involvement and systemic signs of inflammation. Although the diagnosis is clinical, confirmation is achieved through genetic testing identifying mutations in NLRP3. However, many cases do not exhibit identifiable mutations, which complicates diagnosis. Treatment is based on the use of anti-inflammatory medications such as colchicine and IL-1 inhibitors like anakinra, which have demonstrated effectiveness in controlling inflammatory flare-ups and preventing irreversible damage, such as hearing loss and renal failure. Early detection and appropriate therapeutic intervention are crucial for improving patient prognosis, as disease progression can be controlled with early treatments. The disease's progression may be marked by complications, especially hearing loss, which occurs in a significant percentage of patients, directly impacting their quality of life. Continuous follow-up and specialized management are essential for optimizing treatment and minimizing long-term damage. In the future, the development of specific biomarkers for the disease and new therapies targeted at the inflammasome could further improve disease control and quality of life for patients.