Family case with familial mediterranean fever (FMF)
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2023-02-03 21:34
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RABIA, Abed. Family case with familial mediterranean fever (FMF). In: Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”, 21-23 octombrie 2020, Chişinău. Chişinău: USMF, 2020, p. 253.
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Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu” 2020
Congresul "Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”"
Chişinău, Moldova, 21-23 octombrie 2020

Family case with familial mediterranean fever (FMF)


Pag. 253-253

Rabia Abed
 
Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“
 
Disponibil în IBN: 25 martie 2021


Rezumat

Background. Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by periodic episodes of fever and recurrent polyserositis. It is caused by a dysfunction of pyrin as a result of various mutations within MEFV gene, some causing very severe cases, while others may have milder symptoms Objective of the study. To report the case of a family in which 5 members were confirmed genetically with mutations characteristic for FMF out of which 4 displayed similar symptoms. The 4 members displaying signs are the father and the 3 out of 6 siblings(2 males+ 1 female) Material and Methods. Disease history and results of genetic testing of the family members Results. The main presenting complaint in all members is the recurrent abdominal pain variably followed by cramps and flatulence, with/without diarrhea which manifest as attacks for 2-3 days a month. Symptomatic disease onset varied from 9 to 45 y.o., 3 members have left knee arthritis, 4 members have pleuritic chest pain, one has erythema nodosum in both shins and one member is asymptomatic. The father tested genetically as follows FMF-V726A carrier; FMF-E148Q homozygote. and all siblings FMF-V726A heterozygote; FMF-E148Q heterozygote. 4 patients manage to control the disease with diet and colchicine, and the asymptomatic one doesn't use colchicine because of breastfeeding period. Conclusion. Although traditionally fever is a considered a hallmark of FMF, with the discovery of genetic mutations, we can confirm a greater variety of clinical presentation, not all cases presenting with all classical symptoms. even-though all siblings have the same mutation they have different symptoms.

Cuvinte-cheie
familial, Mediterranean fever serositis genetic testing