Cryopyrin-associated periodic syndrome (patient information)

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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).
• Common symptoms include:
  • Rash
  • Periodic Fevers
  • Joint Pain
  • Headache
  • General malaise
  • Conjunctivitis
• FCAS specific symptom is a maculopapular, urticaria-like rash.
• Symptoms are triggered by cold or cooling temperatures.

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.

Who is at Highest Risk?

• Since the disease is inherited in the autosomal dominant mode (meaning only one copy of the gene from one parent is needed to cause the disease), offsprings of parents with these diseases are at highest risk.

Diagnosis

• Diagnosis is usually suspected according to the presence of symptoms.
• However, genetic analysis is necessary for the confirmation of the diagnosis.

When to Seek Urgent Medical Care?

• Since this condition may lead to complications such as renal failure, seeking medical care after the confirmation of the diagnosis is recommended.

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.

What to Expect (Outlook/Prognosis)?

• Prognosis is poor in the severe form of the disease.

Possible Complications

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

Sources

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