A unique presentation of NLRP3-associated autoinflammatory disease: case report.
Arthritis
Autoinflammatory disease
CAPS
CINCA
Case report
Cryopyrin-associated periodic syndrome
Eosinophilia
NLRP3
NOMID
Serositis
Journal
BMC rheumatology
ISSN: 2520-1026
Titre abrégé: BMC Rheumatol
Pays: England
ID NLM: 101738571
Informations de publication
Date de publication:
12 Dec 2022
12 Dec 2022
Historique:
received:
02
05
2022
accepted:
09
11
2022
entrez:
12
12
2022
pubmed:
13
12
2022
medline:
13
12
2022
Statut:
epublish
Résumé
NLRP3-associated autoinflammatory diseases (NLRP3-AID) are rare genetic autoinflammatory diseases characterized by chronic inflammation and an urticaria-like rash. We report an unusual presentation of severe NLRP3-AID resulting in a significant diagnostic delay of more than three decades. The patient presented with early-onset serositis as well as prominent peripheral eosinophilia with organ infiltration, in the absence of the classic urticaria-like rash. DNA analysis by next generation sequencing revealed a sporadic class 4 mutation c.1991T > C (p.Met662Thr) in the NLRP3 gene, confirming a diagnosis of NLRP3-AID at 36 years old. Although treatment with anti-interleukin 1 agent led to clinical remission, irreversible sequelae, namely intellectual disability and deafness, remained. This case highlights unique manifestations of NLRP3-AID, namely the absence of urticaria-like rash, eosinophilic organ infiltration, and pseudoseptic serositis. In order to avoid diagnostic delay and its dire consequences, NLRP3-AID should be suspected in patients displaying autoinflammatory features combined with serum and tissue eosinophilia and/or marked serositis, regardless of skin involvement.
Sections du résumé
BACKGROUND
BACKGROUND
NLRP3-associated autoinflammatory diseases (NLRP3-AID) are rare genetic autoinflammatory diseases characterized by chronic inflammation and an urticaria-like rash. We report an unusual presentation of severe NLRP3-AID resulting in a significant diagnostic delay of more than three decades.
CASE PRESENTATION
METHODS
The patient presented with early-onset serositis as well as prominent peripheral eosinophilia with organ infiltration, in the absence of the classic urticaria-like rash. DNA analysis by next generation sequencing revealed a sporadic class 4 mutation c.1991T > C (p.Met662Thr) in the NLRP3 gene, confirming a diagnosis of NLRP3-AID at 36 years old. Although treatment with anti-interleukin 1 agent led to clinical remission, irreversible sequelae, namely intellectual disability and deafness, remained.
CONCLUSION
CONCLUSIONS
This case highlights unique manifestations of NLRP3-AID, namely the absence of urticaria-like rash, eosinophilic organ infiltration, and pseudoseptic serositis. In order to avoid diagnostic delay and its dire consequences, NLRP3-AID should be suspected in patients displaying autoinflammatory features combined with serum and tissue eosinophilia and/or marked serositis, regardless of skin involvement.
Identifiants
pubmed: 36510304
doi: 10.1186/s41927-022-00321-8
pii: 10.1186/s41927-022-00321-8
pmc: PMC9743682
doi:
Types de publication
Journal Article
Langues
eng
Pagination
91Informations de copyright
© 2022. The Author(s).
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