Autoinflammatory diseases affecting the NLRP3 gene are rare autosomal dominant disorders presenting with episodic organ limited and systemic inflammation. We report three patients with cryopyrinopathies. Our first case is a 4-year-old boy with a history of periodic fever, failure to thrive, and raised intracranial pressure. The second case is a 6-year-old boy with similar complaints, also with bilateral uveitis. The third is a 24-year-old gentleman with periodic fever and early hearing loss, also with a novel presentation of sacroiliitis. Our case series demonstrates that there should be a low clinical threshold indicating genetic testing in any child who displays features of autoinflammation in combination with an urticarial rash, musculoskeletal manifestations, hearing loss, and chronic aseptic meningitis with macrocephaly. Furthermore, despite anakinra being a cornerstone in treating NLRP-3 AID, there is an unmet clinical need to provide access to alternatives such as colchicine and thalidomide in resource-limited settings.
Madan et al. (Sun,) studied this question.
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