1. Identifying high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing?
- Author
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Silva GD, Mahler JV, da Silva Junior SRP, Mendonça LO, de Sá Barreto Lima PLG, Nóbrega PR, Kok F, and Freua F
- Subjects
- Young Adult, Humans, Adult, Neurologists, Adenosine Deaminase genetics, Intercellular Signaling Peptides and Proteins genetics, Fever, Phenotype, Hereditary Autoinflammatory Diseases diagnosis, Hereditary Autoinflammatory Diseases genetics, Familial Mediterranean Fever genetics, Cryopyrin-Associated Periodic Syndromes genetics, Meningitis
- Abstract
Background: Monogenic autoinflammatory disorders result in a diverse range of neurological symptoms in adults, often leading to diagnostic delays. Despite the significance of early detection for effective treatment, the neurological manifestations of these disorders remain inadequately recognized., Methods: We conducted a systematic review searching Pubmed, Embase and Scopus for case reports and case series related to neurological manifestations in adult-onset monogenic autoinflammatory diseases. Selection criteria focused on the four most relevant adult-onset autoinflammatory diseases-deficiency of deaminase 2 (DADA2), tumor necrosis factor receptor associated periodic fever syndrome (TRAPS), cryopyrin associated periodic fever syndrome (CAPS), and familial mediterranean fever (FMF). We extracted clinical, laboratory and radiological features to propose the most common neurological phenotypes., Results: From 276 records, 28 articles were included. The median patient age was 38, with neurological symptoms appearing after a median disease duration of 5 years. Headaches, cranial nerve dysfunction, seizures, and focal neurological deficits were prevalent. Predominant phenotypes included stroke for DADA2 patients, demyelinating lesions and meningitis for FMF, and meningitis for CAPS. TRAPS had insufficient data for adequate phenotype characterization., Conclusion: Neurologists should be proactive in diagnosing monogenic autoinflammatory diseases in young adults showcasing clinical and laboratory indications of inflammation, especially when symptoms align with recurrent or chronic meningitis, small vessel disease strokes, and demyelinating lesions., (© 2024. The Author(s).)
- Published
- 2024
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