Cryopyrin-associated periodic syndrome

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Cryopyrin-associated periodic syndrome
File:Autosomal dominant - en.svg
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Fever, rash, joint pain, conjunctivitis, fatigue
Complications	Amyloidosis, hearing loss
Onset	Childhood
Duration	Lifelong
Types	N/A
Causes	Mutations in the NLRP3 gene
Risks	Family history
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis	Familial Mediterranean fever, TRAPS, HIDS
Prevention	N/A
Treatment	Interleukin-1 inhibitors (e.g., anakinra, canakinumab)
Medication	NSAIDs, corticosteroids
Prognosis	Variable, depends on severity and treatment
Frequency	Rare
Deaths	Rare, usually due to complications

Other Names: CAPS; Cryopyrinopathy A group of heterogeneous autoinflammatory syndromes caused by mutations in the nlrp3 gene.

Signs and symptoms

Signs and symptoms include rash, fever, headache, joint pain, conjunctivitis, and weakness. The symptoms may exacerbate with exposure to cold weather.

Inheritance

Inheritance of these disorders is autosomal dominant with variable penetrance.

File:Autosomal dominant - en.svg

Autosomal dominant pattern, a 50/50 chance.

Diagnosis

Because CAPS is extremely rare and has a broad clinical presentation, it is difficult to diagnose, and a significant delay exists between symptom onset and definitive diagnosis. There are currently no clinical or diagnostic criteria for CAPS based solely on clinical presentation. Instead, diagnosis is made by genetic testing for NLRP3 mutations. Acute phase reactants and white blood cell count are usually persistently elevated, but this is aspecific for CAPS.

Treatment

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition.

• Rilonacept (Brand name: Arcalyst)rilonacept (Arcalyst) was approved for treatment of cryopyrin-assisted periodic ¬†(CAPS).
• Canakinumab (Brand name: Ilaris)canakinumab (Ilaris) was approved for the treatment of cryopyrin-associated periodic syndromes (CAPS), in adults and children 4 years of age and older. In May 2013, it was also approved for the treatment of active Systemic Juvenile Idiopathic arthritis¬†(SJIA) in patients aged 2 through 16 years.

NIH genetic and rare disease info

• NIH info on Cryopyrin-associated periodic syndrome

Cryopyrin-associated periodic syndrome is a rare disease.