Genotype–phenotype associations in familial Mediterranean fever: a study of 500 Egyptian pediatric patients

Objective.Our aims were to validate the pediatric diagnostic criteria in a large international registry and to compare them with the performance of previous criteria for the diagnosis of familial Mediterranean fever (FMF).Methods.Pediatric patients with FMF from the Eurofever registry were used for the validation of the existing criteria. The other periodic fevers served as controls: mevalonate kinase deficiency (MKD), tumor necrosis factor receptor–associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), aphthous stomatitis, pharyngitis, adenitis syndrome (PFAPA), and undefined periodic fever from the same registry. The performances of Tel Hashomer, Livneh, and the Yalcinkaya-Ozen criteria were assessed.Results.The FMF group included 339 patients. The control group consisted of 377 patients (53 TRAPS, 45 MKD, 32 CAPS, 160 PFAPA, 87 undefined periodic fevers). Patients with FMF were correctly diagnosed using the Yalcinkaya-Ozen criteria with a sensitivity rate of 87.4% and a specificity rate of 40.7%. On the other hand, Tel Hashomer and Livneh criteria displayed a sensitivity of 45.0 and 77.3%, respectively. Both of the latter criteria displayed a better specificity than the Yalcinkaya-Ozen criteria: 97.2 and 41.1% for the Tel Hashomer and Livneh criteria, respectively. The overall accuracy for the Yalcinkaya-Ozen criteria was 65 and 69.6% (using 2 and 3 criteria), respectively. Ethnicity and residence had no effect on the performance of the Yalcinkaya-Ozen criteria.Conclusion.The Yalcinkaya-Ozen criteria yielded a better sensitivity than the other criteria in this international cohort of patients and thus can be used as a tool for FMF diagnosis in pediatric patients from either the European or eastern Mediterranean region. However, the specificity was lower than the previously suggested adult criteria.

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The scintigraphic evaluation and genetic correlation of joint involvements in pediatric patients with familial Mediterranean fever

Human & Experimental Toxicology ◽

10.1177/0960327112464797 ◽

2012 ◽

Vol 32 (4) ◽

pp. 337-343 ◽

Cited By ~ 1

Author(s):

F. Aydogan ◽

M. Tutanc ◽

V. Arica ◽

S. Arica ◽

R. Gunesacar

Keyword(s):

Familial Mediterranean Fever ◽

Genetic Correlation ◽

Pediatric Patients ◽

Mediterranean Fever

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Familial Mediterranean Fever Mutation Analysis in Pediatric Patients With İnflammatory Bowel Disease: A Multicenter Study

The Turkish Journal of Gastroenterology ◽

10.5152/tjg.2021.20057 ◽

2021 ◽

Vol 32 (3) ◽

pp. 248-260

Author(s):

Nafiye Urganci ◽

◽

Funda Ozgenc ◽

Zarife Kuloglu ◽

Hasan Yuksekkaya ◽

...

Keyword(s):

Inflammatory Bowel Disease ◽

Familial Mediterranean Fever ◽

Mutation Analysis ◽

Multicenter Study ◽

Bowel Disease ◽

Pediatric Patients ◽

Mediterranean Fever ◽

Inflammatory Bowel

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Discontinuation of colchicine therapy in children with Familial Mediterranean Fever

The Journal of Rheumatology ◽

10.3899/jrheum.201158 ◽

2021 ◽

pp. jrheum.201158

Author(s):

Yonatan Butbul Aviel ◽

Silman Rawan ◽

Shafe Fahouma ◽

Isaiah Wexler ◽

Yackov Berkund

Keyword(s):

Abdominal Pain ◽

Familial Mediterranean Fever ◽

Pediatric Patients ◽

Predictors Of Success ◽

Successful Termination ◽

Select Group ◽

Mediterranean Fever ◽

Colchicine Therapy

Objective Colchicine has been considered a life-long therapy for Familial Mediterranean fever (FMF). Recent studies describe patients who discontinued colchicine, but data pertaining to predictors of success were not provided. The aims of our study are to describe a cohort of pediatric patients with FMF who discontinued colchicine therapy, and to identify factors predicting successful termination of colchicine. Methods This study describes a cohort of pediatric patients with FMF who discontinued colchicine therapy following a relatively prolonged attack-free period (≥6 month), and identifies factors predicting successful termination. Data collected included demographic, clinical, and laboratory characteristics of children diagnosed with FMF < 16 years who underwent a trial of colchicine discontinuation. Data from patients who successfully ceased colchicine therapy were compared to that of patients who relapsed. Results Of 571 patients with FMF, 59 (10.3%) discontinued colchicine therapy. The average attack-free period before enrollment was 1.4±0.97 years. Follow-up after ceasing colchicine was 5.0±3.05 years during which time 11 (20%) patients had an attack. The most common symptoms were fever (92%) and abdominal pain (84.6%). For those failing discontinuation, colchicine was restarted within 1.3 years (range: 0.3-5.0; median 0.7 years). A longer attack-free period prior to colchicine discontinuation predicted success. Myalgia and arthritis prior to colchicine cessation were more common among children who required renewal of colchicine. Conclusion Cessation of colchicine therapy should be considered following prolonged remission in a select group of patients. Patients with arthritis or myalgia are more likely to have an attack after ceasing colchicine therapy.

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