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Familial Mediterranean fever in childhood: a single-center experience

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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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Author information

Authors and Affiliations

  1. Department of Pediatric Rheumatology, Cerrahpasa Medical School, Istanbul University, İstanbul, Turkey

    Kenan Barut, Sezgin Sahin, Amra Adrovic, Ada Bulut Sinoplu, Gozde Yucel, Gizem Pamuk & Ozgur Kasapcopur

  2. Department of Molecular Biology and Genetics, Faculty of Science and Letters, Istanbul Technical University, Istanbul, Turkey

    Aslı Kirectepe Aydın & Eda Tahir Turanlı

  3. Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey

    Selcuk Dasdemir

  4. Department of Medical Biology, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey

    Nur Buyru

Authors
  1. Kenan Barut
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  2. Sezgin Sahin
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  11. Ozgur Kasapcopur
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Corresponding author

Correspondence to Ozgur Kasapcopur.

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Conflicts of interest

All the authors declare no conflict of interest.

Ethical approval

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).

Informed consent

Informed consent was obtained from all individual participants included in the study.

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No specific funding was received from any organization for this paper.

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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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