Muckle-Wells Syndrome

Muckle-Wells Syndrome is a rare genetic disorder that causes episodes of inflammation, leading to symptoms such as fever, skin rashes, joint pain, and sometimes hearing loss. It results from an abnormal immune response due to a mutation in the NLRP3 gene, which causes the body to produce too much inflammatory protein called interleukin-1. These episodes can occur periodically and may lead to long-term issues like kidney inflammation or amyloidosis if untreated. Treatment typically involves medications that block interleukin-1 activity, helping to reduce inflammation and prevent complications.