Periodic fever syndrome

Periodic Fever Syndrome Microchapters
Patient Information
Overview
Classification Familial Mediterranean fever Hyperimmunoglobulinemia D with recurrent fever TNF receptor associated periodic syndrome Cryopyrin-associated periodic syndrome Periodic fever, aphthous stomatitis, pharyngitis and adenitis Blau syndrome Pyogenic sterile arthritis, pyoderma gangrenosum, acne
Causes
Differential Diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: Autoinflammatory syndrome

Overview

The periodic fever syndromes (also known as autoinflammatory syndromes) are a set of 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.

Causes

• Familial Mediterranean fever
• Hyperimmunoglobulinemia D with recurrent fever
• TNF receptor associated periodic syndrome (TRAPS)
• Cryopyrin-associated periodic syndrome (CAPS) which includes:
  • Muckle-Wells syndrome
  • Familial cold urticaria
  • Neonatal onset multisystem inflammatory disease
• Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA syndrome)
• Blau syndrome
• Pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA syndrome)

References

Stojanov S, Kastner DL. Familial autoinflammatory diseases: genetics, pathogenesis and treatment. Curr Opin Rheumatol. 2005 Sep;17(5):586-99. Review. PMID 16093838