Diagnosis and Management of the Cryopyrin-Associated Periodic Syndromes (CAPS): What Do We Know Today?
The cryopyrin-associated periodic syndromes (CAPS) are usually caused by heterozygous <i>NLRP3</i> gene variants, resulting in excessive inflammasome activation with subsequent overproduction of interleukin (IL)-1β. The CAPS spectrum includes mild, moderate, and severe phenotypes. The mi...
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-01-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/10/1/128 |
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| author | Tatjana Welzel Jasmin B. Kuemmerle-Deschner |
| author_facet | Tatjana Welzel Jasmin B. Kuemmerle-Deschner |
| author_sort | Tatjana Welzel |
| collection | DOAJ |
| description | The cryopyrin-associated periodic syndromes (CAPS) are usually caused by heterozygous <i>NLRP3</i> gene variants, resulting in excessive inflammasome activation with subsequent overproduction of interleukin (IL)-1β. The CAPS spectrum includes mild, moderate, and severe phenotypes. The mild phenotype is called familial cold autoinflammatory syndrome (FCAS), the moderate phenotype is also known as Muckle–Wells syndrome (MWS), and the neonatal-onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic cutaneous articular syndrome (CINCA) describes the severe phenotype. The CAPS phenotypes display unspecific and unique clinical signs. Dermatologic, musculoskeletal, ocular, otologic, and neurologic disease symptoms combined with chronic systemic inflammation are characteristic. Nevertheless, making the CAPS diagnosis is challenging as several patients show a heterogeneous multi-system clinical presentation and the spectrum of genetic variants is growing. Somatic mosaicisms and low-penetrance variants lead to atypical clinical symptoms and disease courses. To avoid morbidity and to reduce mortality, early diagnosis is crucial, and a targeted anti-IL-1 therapy should be started as soon as possible. Furthermore, continuous and precise monitoring of disease activity, organ damage, and health-related quality of life is important. This review summarizes the current evidence in diagnosis and management of patients with CAPS. |
| first_indexed | 2024-03-10T13:33:09Z |
| format | Article |
| id | doaj.art-a36510ebd4a044e1a599e6ea1e556178 |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-10T13:33:09Z |
| publishDate | 2021-01-01 |
| publisher | MDPI AG |
| record_format | Article |
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| spelling | doaj.art-a36510ebd4a044e1a599e6ea1e5561782023-11-21T07:44:03ZengMDPI AGJournal of Clinical Medicine2077-03832021-01-0110112810.3390/jcm10010128Diagnosis and Management of the Cryopyrin-Associated Periodic Syndromes (CAPS): What Do We Know Today?Tatjana Welzel0Jasmin B. Kuemmerle-Deschner1Pediatric Rheumatology and Autoinflammation Reference Center Tuebingen (arcT), University Children’s Hospital Tuebingen, D-72076 Tuebingen, GermanyPediatric Rheumatology and Autoinflammation Reference Center Tuebingen (arcT), University Children’s Hospital Tuebingen, D-72076 Tuebingen, GermanyThe cryopyrin-associated periodic syndromes (CAPS) are usually caused by heterozygous <i>NLRP3</i> gene variants, resulting in excessive inflammasome activation with subsequent overproduction of interleukin (IL)-1β. The CAPS spectrum includes mild, moderate, and severe phenotypes. The mild phenotype is called familial cold autoinflammatory syndrome (FCAS), the moderate phenotype is also known as Muckle–Wells syndrome (MWS), and the neonatal-onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic cutaneous articular syndrome (CINCA) describes the severe phenotype. The CAPS phenotypes display unspecific and unique clinical signs. Dermatologic, musculoskeletal, ocular, otologic, and neurologic disease symptoms combined with chronic systemic inflammation are characteristic. Nevertheless, making the CAPS diagnosis is challenging as several patients show a heterogeneous multi-system clinical presentation and the spectrum of genetic variants is growing. Somatic mosaicisms and low-penetrance variants lead to atypical clinical symptoms and disease courses. To avoid morbidity and to reduce mortality, early diagnosis is crucial, and a targeted anti-IL-1 therapy should be started as soon as possible. Furthermore, continuous and precise monitoring of disease activity, organ damage, and health-related quality of life is important. This review summarizes the current evidence in diagnosis and management of patients with CAPS.https://www.mdpi.com/2077-0383/10/1/128CAPSFCASMWSCINCANOMIDhearing loss |
| spellingShingle | Tatjana Welzel Jasmin B. Kuemmerle-Deschner Diagnosis and Management of the Cryopyrin-Associated Periodic Syndromes (CAPS): What Do We Know Today? Journal of Clinical Medicine CAPS FCAS MWS CINCA NOMID hearing loss |
| title | Diagnosis and Management of the Cryopyrin-Associated Periodic Syndromes (CAPS): What Do We Know Today? |
| title_full | Diagnosis and Management of the Cryopyrin-Associated Periodic Syndromes (CAPS): What Do We Know Today? |
| title_fullStr | Diagnosis and Management of the Cryopyrin-Associated Periodic Syndromes (CAPS): What Do We Know Today? |
| title_full_unstemmed | Diagnosis and Management of the Cryopyrin-Associated Periodic Syndromes (CAPS): What Do We Know Today? |
| title_short | Diagnosis and Management of the Cryopyrin-Associated Periodic Syndromes (CAPS): What Do We Know Today? |
| title_sort | diagnosis and management of the cryopyrin associated periodic syndromes caps what do we know today |
| topic | CAPS FCAS MWS CINCA NOMID hearing loss |
| url | https://www.mdpi.com/2077-0383/10/1/128 |
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