Cryopyrin associated periodic syndromes
Other Names[edit | edit source]
CAPS; Cryopyrinopathy
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Clinical features[edit | edit source]
- Cryopyrin-associated periodic syndrome (CAPS) is a rare hereditary inflammatory disorder.
- Clinical features include cutaneous, neurological, ophthalmologic, and rheumatologic manifestations.
Signs and symptoms[edit | edit source]
Most common symptoms include fever, fatigue, malaise, mood disorders or failure to thrive, urticarial or maculopapular rash, myalgia, arthralgia, and/or arthritis, joint contracture, patellar overgrowth, bone deformity, bone erosion and/or osteolytic lesion, conjunctivitis and/or uveitis, optic nerve atrophy, cataract, glaucoma or impaired vision, neurosensory hearing loss, morning headache, papilloedema, and/or meningitis, seizure, hydrocephalus or mental retardation and amyloidosis.
Types[edit | edit source]
It has thee types:
- Familial cold autoinflammatory syndrome,
- Muckle-Wells syndrome, and
- Neonatal-onset multisystem inflammatory disease.
Cause[edit | edit source]
- CAPS results from a gain-of-function mutation of the NLRP3 gene coding for cryopyrin, which forms intracellular protein complexes known as inflammasomes.
- Defects of the inflammasomes lead to overproduction of interleukin-1, resulting in inflammatory symptoms seen in CAPS.
Inheritance[edit | edit source]
It is a genetic disease transmitted in an autosomal dominant manner.
Diagnosis[edit | edit source]
Diagnosis is often delayed and requires a thorough review of clinical symptoms.
Treatment[edit | edit source]
- In February 2008, rilonacept (Arcalyst) was approved for treatment of cryopyrin-assisted periodic syndromes (CAPS).
- In June 2009, canakinumab (Ilaris) was approved for the treatment of cryopyrin-associated periodic syndromes (CAPS), in adults and children 4 years of age and older.
- Canakinumab is manufactured by Novartis Pharmaceuticals Corporation under brand name Ilaris.
- In May 2013, Ilaris 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[edit source]
Cryopyrin associated periodic syndromes is a rare disease.
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