Cryopyrin associated periodic syndromes

Other Names

CAPS; Cryopyrinopathy

Autosomal dominant pedigree

Clinical features

• Cryopyrin-associated periodic syndrome (CAPS) is a rare hereditary inflammatory disorder.
• Clinical features include cutaneous, neurological, ophthalmologic, and rheumatologic manifestations.

Signs and symptoms

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

It has thee types:

1. Familial cold autoinflammatory syndrome,
2. Muckle-Wells syndrome, and
3. Neonatal-onset multisystem inflammatory disease.

Cause

• 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

It is a genetic disease transmitted in an autosomal dominant manner.

Diagnosis

Diagnosis is often delayed and requires a thorough review of clinical symptoms.

Treatment

• 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

• NIH info on Cryopyrin associated periodic syndromes

Cryopyrin associated periodic syndromes is a rare disease.