Cryopyrin associated periodic fever syndrome (CAPS)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Cryopyrin associated periodic fever syndrome (CAPS). This is caused by mutations in the NLRP3 gene on chromosome 1q. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the NLRP3 gene on chromosome 1q
- The T348M variant has the worst phenotype
- The transmission is autosomal dominant
Pathology
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Subtypes
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Triggers
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Neurological features
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Ophthalmological features
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Systemic features
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Complications
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Neurological investigations
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Systemic investigations
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Treatment
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References
- Keddie S, Parker T, Lachmann HJ, Ginsberg L. Cryopyrin-associated periodic fever syndrome and the nervous system. Curr Treat Options Neurol 2018; 20:43.
- Parker T, Keddie S, Kidd D, et al. Neurology of the cryopyrin-associated periodic fever syndrome. Eur J Neurol 2016; 23:1145-1151.
- Christensen M, Wallis M, Jessup P, Lemelle I, Jones DL. Cryopyrin-associated periodic syndrome: a treatable genetic inflammatory condition. Pract Neurol 2021; 21:424-426.
- Tran TA. Muckle-Wells syndrome: clinical perspectives. Open Access Rheumatol 2017; 9:123-129.
- Mulazzani E, Böhm L, Christmann T, Krumbholz M, Kümpfel T, Havla J. Optical coherence tomography assessment of disease activity in cryopyrin-associated periodic syndrome. Eur J Neurol 2024; 31:e16301.
