Logo

Novel evidences of atypical manifestations in cryopyrin-associated periodic syndromes

1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14

  1. Department of Internal Medicine, Hospital Vall Hebron, Barcelona, Spain.
  2. Department of Allergy, Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona, Spain.
  3. Department of Internal Medicine, Hospital Verge de la Cinta, Tortosa, Spain.
  4. Department of Paediatrics, Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona, Spain.
  5. Department of Allergy, Hospital Municipal de Badalona, Spain.
  6. Department of Immunology-CDB, Hospital Clínic-IDIBAPS, Barcelona, Spain.
  7. Department of Immunology-CDB, Hospital Clínic-IDIBAPS, Barcelona, Spain.
  8. Department of Immunology-CDB, Hospital Clínic-IDIBAPS, Barcelona, Spain.
  9. Department of Immunology-CDB, Hospital Clínic-IDIBAPS, Barcelona, Spain.
  10. Department of Paediatric Rheumatology, Hospital Vall Hebron, Barcelona, Spain.
  11. Department of Internal Medicine, Hospital Vall Hebron, Barcelona, Spain.
  12. Department of Immunology-CDB, Hospital Clínic-IDIBAPS, Barcelona, Spain.
  13. Department of Internal Medicine, Hospital Vall Hebron, Barcelona, Spain.
  14. Department of Immunology-CDB, Hospital Clínic-IDIBAPS, Barcelona, Spain. jiaroste@clinic.ub.es

CER9295 Submission on line
2017 Vol.35, N°6 ,Suppl.108 - PI 0027, PF 0031
Full Papers

Rheumatology Article

 

Abstract

OBJECTIVES:
Cryopyrin-associated periodic syndromes (CAPS) usually start during infancy as an urticarial-like rash and a marked acute phase response, with additional manifestations appearing during its evolution. The aim of this study was to expand the clinical diversity of CAPS by the description of novel atypical features.
METHODS:
Clinical data were collected from patients’ medical charts. Sanger sequencing analyzed NLRP3. Response to anti-IL-1 blockade was evaluated by clinical assessments and by measurements of laboratory parameters.
RESULTS:
Seventeen patients from two families (A and B), carrying the p.Ala439Thr and p.Arg260Trp NLRP3 mutations respectively, were enrolled. The disease was unexpectedly atypical in all members of Family A, with a 16-year-old asymptomatic carrier, and onset in adulthood associated with absence of skin lesions in four affected members. Surprisingly, one patient from each family suffered from severe haemorrhagic cystitis due to AA amyloidosis in the urinary bladder. Members of Family B displayed a classical phenotype, with two patients suffering from olfactive disorders.
CONCLUSIONS:
Our evidence suggests that CAPS may occasionally be presented as a late-onset, recurrent inflammatory disease without urticarial-like rash. In some patients, AA amyloidosis in strange locations like urinary bladder may complicate the clinical course. The response to IL-1 blockade in these atypical CAPS was similar to that described in classical forms. Consequently, we suggest that CAPS should be included in the differential diagnosis of adult patients with unexplained, recurrent inflammatory diseases, and once confirmed, the early initiation of anti-IL-1 blockade will probably prevent the development of life-threatening complications.

PMID: 28079503 [PubMed]

Received: 27/01/2016 - Accepted : 07/09/2016 - In Press: 09/01/2017 - Published: 27/11/2017