Cryopyrin associated periodic fever syndrome (CAPS)
Evidence-based neurology checklist on cryopyrin associated periodic fever syndrome (caps): 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 Subtypes Triggers Neurological features…
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
Subtypes
Triggers
Neurological features
Ophthalmological features
Systemic features
Complications
Neurological investigations
Systemic investigations
Treatment
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.
