Identifying high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing?
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 recog...
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| Format: | Article |
| Language: | English |
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BMC
2024-04-01
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| Series: | BMC Neurology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12883-024-03621-3 |
| _version_ | 1797199308832899072 |
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| author | Guilherme Diogo Silva João Vitor Mahler Sérgio Roberto Pereira da Silva Junior Leonardo Oliveira Mendonça Pedro Lucas Grangeiro de Sá Barreto Lima Paulo Ribeiro Nóbrega Fernando Kok Fernando Freua |
| author_facet | Guilherme Diogo Silva João Vitor Mahler Sérgio Roberto Pereira da Silva Junior Leonardo Oliveira Mendonça Pedro Lucas Grangeiro de Sá Barreto Lima Paulo Ribeiro Nóbrega Fernando Kok Fernando Freua |
| author_sort | Guilherme Diogo Silva |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-24T07:13:42Z |
| format | Article |
| id | doaj.art-10e5297799cc4e468a769967b8fce8f8 |
| institution | Directory Open Access Journal |
| issn | 1471-2377 |
| language | English |
| last_indexed | 2024-04-24T07:13:42Z |
| publishDate | 2024-04-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Neurology |
| spelling | doaj.art-10e5297799cc4e468a769967b8fce8f82024-04-21T11:22:35ZengBMCBMC Neurology1471-23772024-04-012411710.1186/s12883-024-03621-3Identifying high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing?Guilherme Diogo Silva0João Vitor Mahler1Sérgio Roberto Pereira da Silva Junior2Leonardo Oliveira Mendonça3Pedro Lucas Grangeiro de Sá Barreto Lima4Paulo Ribeiro Nóbrega5Fernando Kok6Fernando Freua7Neuroimmunology Group, Division of Neurology, Hospital das Clinicas (HCFMUSP), Faculdade de Medicina, Universidade de Sao PauloFaculdade de Medicina, Universidade de Sao PauloNeurogenetics Group, Division of Neurology, Hospital das Clinicas (HCFMUSP), Faculdade de Medicina, Universidade de Sao PauloDivision of Clinical Immunology and Allergy, Hospital das Clinicas (HCFMUSP), Faculdade de Medicina, Universidade de Sao PauloFaculty of Medicine, Federal University of CearaDivision of Neurology, Walter Cantídio University Hospital, Federal University of CearáNeurogenetics Group, Division of Neurology, Hospital das Clinicas (HCFMUSP), Faculdade de Medicina, Universidade de Sao PauloNeurogenetics Group, Division of Neurology, Hospital das Clinicas (HCFMUSP), Faculdade de Medicina, Universidade de Sao PauloAbstract 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.https://doi.org/10.1186/s12883-024-03621-3Autoinflammatory diseaseStrokeMeningitisDemyelinating diseaseGenetic disease |
| spellingShingle | Guilherme Diogo Silva João Vitor Mahler Sérgio Roberto Pereira da Silva Junior Leonardo Oliveira Mendonça Pedro Lucas Grangeiro de Sá Barreto Lima Paulo Ribeiro Nóbrega Fernando Kok Fernando Freua Identifying high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing? BMC Neurology Autoinflammatory disease Stroke Meningitis Demyelinating disease Genetic disease |
| title | Identifying high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing? |
| title_full | Identifying high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing? |
| title_fullStr | Identifying high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing? |
| title_full_unstemmed | Identifying high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing? |
| title_short | Identifying high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing? |
| title_sort | identifying high risk neurological phenotypes in adult onset classic monogenic autoinflammatory diseases when should neurologists consider testing |
| topic | Autoinflammatory disease Stroke Meningitis Demyelinating disease Genetic disease |
| url | https://doi.org/10.1186/s12883-024-03621-3 |
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