Autoinflammatoorsetes

Autoinflammatory diseases are a group of genetic disorders characterized by recurrent episodes of unexplained inflammation. Unlike autoimmune diseases where the immune system mistakenly attacks the body's own tissues, in autoinflammatory diseases, there is an intrinsic malfunction of the innate immune system, leading to inappropriate activation and self-perpetuating inflammation. These conditions are often caused by mutations in single genes that regulate the inflammatory process, particularly those involved in the NLRP3 inflammasome pathway.

The clinical presentation of autoinflammatory diseases is highly variable and can affect multiple organ systems. Common symptoms include fever, rash, joint pain and swelling, abdominal pain, and inflammation of serous membranes like the pleura and peritoneum. Some individuals may also experience organ damage over time, such as amyloidosis or kidney disease. The onset of symptoms can occur at any age, from infancy to adulthood, and the frequency and severity of attacks can differ significantly between individuals and even within the same person.

Diagnosis relies on a combination of clinical findings, laboratory tests that may show elevated inflammatory markers, and genetic testing to identify causative mutations. While there is no cure for most autoinflammatory diseases, management focuses on controlling inflammation and preventing organ damage. Treatment options include nonsteroidal anti-inflammatory drugs, colchicine, corticosteroids, and targeted biologic therapies such as cytokine inhibitors, particularly those blocking interleukin-1. Early diagnosis and appropriate treatment are crucial for improving long-term outcomes and quality of life for affected individuals.