- Meeting abstract
- Open Access
P02-033 - CAPS diagnosis and treatment in an Israeli family
© Shinar et al; licensee BioMed Central Ltd. 2013
- Published: 8 November 2013
- Acute Phase Reactant
- Pathogenic Variant
- Mucosal Ulcer
Only one family in Israel, from Ethiopian Jewish origin has been diagnosed with the familial cold autoinflammatory syndrome phenotype of the cryopyrin associated periodic syndromes (CAPS).
We confirmed the Muckle-Wells syndrome phenotype of CAPS by NLRP3 genetic testing in a three generation family of Turkish Jewish origin, previously diagnosed with familial Behcet disease due to the presence of mucosal ulcers in several family members with the finding of the HLA-B51 antigen in at least one family member. Eight family members including a deceased grandfather, 4 of his daughters and three grandchildren had brief episodes of fever and chills, accompanied by headache, myalgia, arthralgia, and an urticarial skin rash. Most family members had substantial hearing loss. None developed amyloidosis. Four family members tested for a NLRP3 pathogenic variant had the known NM_001243313.1:c.1043C>T, p.Thr348Met variant. Following initiation of treatment with canakinumab (150 mg every 8 weeks) and colchicine for mucosal ulcers all disease symptoms resolved and acute phase reactants normalized except for persistent headaches in one grandchild and tinitus in another. The health-related quality of life of the treated grandchildren markedly improved.
NLRP3 genetic testing was instrumental in the diagnosis of CAPS in this family, particularly as some family members presented with atypical features suggestive of Behcet disease, which is much more common in Israel. Although CAPS is a rare disease, additional cases with other NLRP3 variants may exist in Israel.
Y. Shinar: None Declared, G. Breuer: None Declared, A. Livneh Grant / Research Support from: Novartis, P. Hashkes Grant / Research Support from: Novartis, Consultant for: Novartis, Speaker bureau of: Novartis.
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