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Article

'Silent' carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient.

Clinical genetics - 1 Sept 2012

Camus D, Shinar Y, Aamar S, Langevitz P, Ben-Zvi I, Livneh A, Lidar M

Abstract excerpt

The presence of two mutations in the familial Mediterranean fever gene, without overt familial Mediterranean fever (FMF), designated as phenotype III, predisposes to developing 'silent' AA amyloidosis, recognized as phenotype II, due to the absence of medical supervision and colchicine prophylaxis. We sought to determine the prevalence of phenotype III in large families with only one subject affected with FMF, in...

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PMID: 21995303
DOI: 10.1111/j.1399-0004.2011.01785.x

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MEFV

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