Cryopyrin-associated periodic syndrome (patient information)

{Cryopyrin-associated periodic syndrome}

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]

Overview

The cryopyrin-associated periodic syndrome consists of three separate diseases that occur due to a defect in the same gene.

What are the Symptoms of cryopyrin-associated periodic syndrome?

• The symptoms depend on the severity and type of the disease.
• Generally, disease severity increases from mild to severe in the following order: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome, neonatal-onset multisystem inflammatory disease (NOMID).

What Causes cryopyrin-associated periodic syndrome?

• CAPS occurs due to a defect in a gene that is responsible for the production of cryopyrin.
• Cryopyrin is a protein which plays an important role in controlling inflammation.

Treatment Options

• Treatment options include:
  • Biologic agents that target interleukin-1 (IL-1)
• Treatment for joint deformities:
  • Physical therapy
  • Splints
  • surgery (less common)
• Symptomatic treatment:
  • Nonsteroidal anti-inflammatory drugs
  • Corticosteroids
  • Methotrexate

Where to find Medical Care for cryopyrin-associated periodic syndrome?

Medical care for cryopyrin-associated periodic syndrome can be found here.

Prevention

• There is no preventive method for the cryopyrin-associated periodic syndrome.

Possible Complications

• Renal failure
• Hearing loss
• Developmental delay (in NOMID)

Sources

http://www.nlm.nih.gov/medlineplus/ency/article/000434.htm