Periodic fever syndrome

From Wikipedia, the free encyclopedia

The periodic fever syndromes (also known as autoinflammatory syndromes) are a set of disorders, many of which are genetic disorders in which the mechanisms which initiate and control inflammation are disturbed, leading to uncontrolled inflammation throughout the body. The syndromes are diverse, but tend to cause fever, joint pains, abdominal pains and may lead to chronic complications such as amyloidosis.^[1]

Periodic fever syndromes are medically distinct from immunodeficiency conditions, in which infections can occur frequently and induce fever.

[edit] Individual periodic fever syndromes

• Familial Mediterranean fever (FMF)
• Hyperimmunoglobulinemia D with recurrent fever (HIDS). This is now (along with mevalonic aciduria) defined as a mevalonate kinase deficiency^[2]
• TNF receptor associated periodic syndrome (TRAPS)
• Muckle-Wells syndrome
• Familial cold urticaria
• Neonatal onset multisystem inflammatory disease
• Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA syndrome or Marshall syndrome (not Marshall-Smith syndrome))
• Blau syndrome
• Pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA)

[edit] References

1. ^ Stojanov S, Kastner DL (2005). "Familial autoinflammatory diseases: genetics, pathogenesis and treatment". Curr Opin Rheumatol 17 (5): 586–99. PMID 16093838. 
2. ^ Houten SM, Frenkel J, Waterham HR (2003). "Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation". Cell. Mol. Life Sci. 60 (6): 1118–34. doi:10.1007/s00018-003-2296-4. PMID 12861380.