PubMed · 13602382
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R COIRAULT, M BERNARD, P DAVIDOU. [II. Periodic paralyses].. https://pubmed.ncbi.nlm.nih.gov/13602382/
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BACKGROUND AND OBJECTIVE: Familial hemochromatosis (FHEM), familial hypercholesterolemia (FH), familial mediterranean fever (FMF), and familial thrombophilia (FT) are relatively common genetically determined diseases of (early) adulthood. Chances, shortcomings, and practical aspects of population screening were considered. METHODS: The literature, as well as existing data concerning the treatment of these diseases in The Netherlands, were studied. RESULTS: In these four diseases there are so many modifying genes and environmental and lifestyle influences that accurate predictive testing at the population level is currently not sufficiently effective. The data indicate that the implementation of family clinics for FHEM and FH are necessary. There is need for further sociologic studies in the moslim population of Mediterranean and North African origin about acceptance of DNA diagnostics in relation to consanguinity and into the problem of "pseudodominance." There seems no need for early detection and preventive measures for FT in asymptomatic persons. CONCLUSION: No population screening for these four genetically determined diseases of (early) adulthood is sufficiently effective at the present time. We propose to call these diseases "chronic diseases with a single gene component."
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The "self-inflammatory syndrome" gathers diseases all characterized by a recurrent inflammatory syndrome with fever, in the absence of infection or neoplasia. It is based on a genetic support characterized by mutations in genes implied in the inflammatory response and in the activation of the cytokine network. The diseases associated with this syndrome are familial Mediterranean fever (FMF), TRAPS (tumor necrosis factor receptor super family 1 A-associated periodic syndrome), familial cold urticaria, the Muckle-Wells syndrome, the hyper IgD syndrome and CINCA. The clinical symptoms of all these diseases include in the auto-inflammatory syndrome are quite similar: recurrent attacks, with fever, articular, abdominal, cutaneous symptoms, and an inflammatory syndrome.