Abstract
The aim of this study is to present demographic and clinical features, MEFV mutation variations, and treatment response of a large number of pediatric familial Mediterranean fever (FMF) patients from a single tertiary centre. Moreover, we aimed to investigate the current outcome of FMF, namely frequency of amyloidosis in children with FMF. We evaluated 708 FMF patients who were followed up in our clinic and who were under colchicine treatment for at least 6 months. The data were recorded from patient records and also verified by negotiations with patients and parents. The male/female proportion of the cohort was 1.05/1 (n = 362/346). Abdominal pain (89.5%, n = 634) was the most common manifestation of FMF episodes, followed by fever (88.8%, n = 629) and arthritis (40.7%, n = 288). However, arthritis in 23 (8%) of the 288 cases was not self-limited; and they subsequently diagnosed with juvenile idiopathic arthritis in addition to FMF. Homozygote or heterozygote M694V mutation was more frequent in patients with arthritis (63.2%) and chronic arthritis (69.6%) than the whole cohort (53.8%). Erythrocyte sedimentation rate and CRP level were in high levels even during attack-free period in 13.9% (n = 97/697) and 11% (n = 78/670) of the patients, respectively. Proteinuria was found in ten patients (1.4%). Amyloidosis was confirmed by renal biopsy in only two of these cases who were homozygous for M694V and compound heterozygous for M694V/M680I. 47 (6.6%) subjects were considered as colchicine resistant. Homozygote M694V mutation was the most frequent mutation in those resistant cases (63.8%, n = 30), followed by compound heterozygote mutation of M694V/M680I (6.3%, n = 3). Homozygous M694V mutation are still the most frequent mutation and associated with the most severe clinical picture and the worst outcome in Turkish children. M694V genotype seems to be more frequently associated with arthritis as well as with chronic arthritis than other genotypes. Recurrence of FMF episodes as well as amyloidosis could only be managed via strict compliance to colchicine treatment. Frequency of amyloidosis significantly decreased compared to the previous studies. A favorable outcome could be obtained with the anti IL-1 in colchicine-resistant FMF patients.
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Abbreviations
- FMF:
-
Familial Mediterranean fever
- CRP:
-
C-reactive protein
- DNA:
-
Deoxyribonucleic acid
- ESR:
-
Erythrocyte sedimentation rate
- JIA:
-
Juvenile idiopathic arthritis
- ERA:
-
Enthesitis-related arthritis
- ANA:
-
Antinuclear antibody
- HLA-B27:
-
Human leukocyte antigen B27
- SD:
-
Standard deviation
- ELE:
-
Erysipelas-like erythema
- IBD:
-
Inflammatory bowel disease
- PCR:
-
polymerase chain reaction
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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Cerrahpasa Medical School ethics committee approved this study (166591).
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Barut, K., Sahin, S., Adrovic, A. et al. Familial Mediterranean fever in childhood: a single-center experience. Rheumatol Int 38, 67–74 (2018). https://doi.org/10.1007/s00296-017-3796-0
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DOI: https://doi.org/10.1007/s00296-017-3796-0