Autoinflammatory syndromes are a heterogeneous group of inherited inflammatory disorders characterized by recurrent episodes of fever, inflammation and systemic symptoms. Some of the most common types include:
- Familial Mediterranean fever (FMF) is the most common autoinflammatory disorder worldwide and is characterized by recurrent episodes of fever, abdominal pain, chest pain and arthritis. FMF is due to mutations in the MEFV gene, which codes for the pyrin protein.
- Hyper-IgD syndrome with periodic fever and inflammatory symptoms (HIDS) is characterized by recurrent episodes of fever, abdominal pain, joint pain and skin rashes. HIDS is due to mutations in the MVK gene, which codes for the enzyme mevalonate kinase.
- Familial autoinflammatory syndrome associated with arthritis (AIFAA) is characterized by recurrent episodes of fever, joint pain and skin rashes. AIFAA is due to mutations in the NLRP12 gene, which codes for an inflammatory protein called NLRP12.
- Autoinflammatory syndrome with fever and adenopathy (AFAS): A rare autoinflammatory disease characterized by fever, adenopathy and recurrent skin rashes. The NOD2 gene is implicated in some cases. Treatment includes non-steroidal anti-inflammatory drugs, corticosteroids and other immunomodulators.
The etiopathogenesis of these autoinflammatory syndromes is complex and may involve multiple mechanisms, including chronic low-grade inflammation, activation of the innate immune system, abnormal regulation of inflammation, and excessive production of inflammatory cytokines.
The diagnosis of autoinflammatory syndromes is often based on the presence of characteristic symptoms and the exclusion of other causes of recurrent inflammation. Diagnostic confirmation often involves genetic testing for specific mutations associated with each syndrome.
Treatment of autoinflammatory syndromes often involves the use of nonsteroidal anti-inflammatory drugs (NSAIDs) to control inflammation and symptoms. Corticosteroids and immunomodulatory drugs, such as anakinra and canakinumab, which specifically inhibit inflammation in these disorders, may also be used. Individualized treatment will depend on the specific type of autoinflammatory syndrome and severity of symptoms.
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