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[Cryopyrin-associated periodic syndrome].
1Klinik für Kinder- und Jugendmedizin, Abteilung für pädiatrische Rheumatologie, Autoinflammation Reference Center Tübingen, Universitätsklinikum Tübingen, Hoppe-Seyler-Str. 1, 72076, Tübingen, Deutschland. kuemmerle.deschner@uni-tuebingen.de
Zeitschrift Fur Rheumatologie
|April 25, 2012
Summary
Cryopyrin-associated periodic syndromes (CAPS) are rare autoinflammatory diseases caused by NLRP3 mutations. Early diagnosis and IL-1 inhibitors are crucial for managing severe symptoms and preventing life-threatening complications.
Area of Science:
- Genetics
- Immunology
- Rheumatology
Context:
- Cryopyrin-associated periodic syndromes (CAPS) are rare autoinflammatory disorders.
- Prevalence estimates are low (1-2/million in USA, 1/360,000 in France), but underdiagnosis is common, suggesting higher actual prevalence.
- CAPS includes familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome, and NOMID/CINCA syndrome.
Purpose:
- To describe the genetic basis, clinical manifestations, and therapeutic advancements in CAPS.
- To highlight the importance of early diagnosis and treatment for improving patient outcomes.
Summary:
- CAPS is caused by NLRP3 gene mutations leading to cryopyrin activation and inflammasome-mediated IL-1β overproduction.
- Clinical features include systemic inflammation (fever, rash, fatigue), eye disease, hearing loss, and musculoskeletal issues; CNS symptoms occur in NOMID/CINCA.
- IL-1 inhibitors (anakinra, rilonacept, canakinumab) offer safe and effective treatment options.
Impact:
- Early and accurate diagnosis is essential to prevent severe, potentially life-threatening sequelae of CAPS.
- Targeted IL-1 blockade provides a breakthrough therapy for this debilitating condition.
- Improved understanding and treatment of CAPS can significantly enhance patient quality of life.
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