Screening
Evidence suggests screening the general population for highly prevalent mutations in known genes involved in auto-inflammatory disorders (auto-inflammatory syndrome, FMF, tumour necrosis factor receptor-associated periodic syndrome, or hyperimmunoglobulinaemia D syndrome) does not tend to yield additional relevant information.[60][82]
Genetic testing
Routine genetic testing for Mediterranean fever mutations is not recommended in siblings or the family members of an index case. However, it seems necessary to make parents or siblings aware of FMF clinical signs so that they can seek advice from a physician in case of suspected symptoms. In families at high risk for secondary amyloidosis, acute-phase reactants should be tested. In case of elevated inflammatory markers on two successive blood tests in totally asymptomatic individuals, genetic testing should be considered. This is because elevated acute-phase reactants may unveil a hidden disease and these patients would need prompt treatment.
Genetic screening for the 4 most common mutations (M680I, M694V, V726A, and M694I) may also be indicated in the evaluation of unexplained febrile musculoskeletal symptoms in children of Mediterranean ancestry.[21] However, the discovery of 2 mutations in an individual confirms the diagnosis only in the presence of clinical and/or biological signs of inflammation.
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