Comorbidities and phenotype–genotype correlation in children with familial Mediterranean fever

Ayaz, Nuray Aktay; Tanatar, Ayşe; Karadağ, Şerife Gül; Çakan, Mustafa; Keskindemirci, Gonca; Sönmez, Hafize Emine

doi:10.1007/s00296-020-04592-7

Cited by 33 publications

(36 citation statements)

References 44 publications

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“…The diagnosis of FMF is based on the use of diagnostic criteria with the support of genetic testing. The initial implementation of genetic testing has brought a new perspective to diagnostic practices of FMF, and genetic testing is worthwhile both as a diagnostic adjunct and for predicting the severity of the disease and the patients' predispositions to comorbidities, since some mutations were found to be associated with a severe disease course in various studies [20][21][22][23][24].…”

Section: Discussionmentioning

confidence: 99%

Adherence to best practice consensus guidelines for familial Mediterranean fever: a modified Delphi study among paediatric rheumatologists in Turkey

et al. 2021

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Background Although not validated fully, recommendations are present for diagnosis, screening and treatment modalities of patients with familial Mediterranean fever (FMF). Objective To review the current practices of clinicians regarding FMF and reveal their adherence to consensus guidelines. Methods Fifteen key points selected regarding the diagnosis and management of FMF were assessed by 14 paediatric rheumatologists with a three-round modified Delphi panel. Results Consensus was reached on the following aspects: genetic analysis should be ordered to all patients when clinical findings support FMF, but its result is not decisive alone. In the absence of clinical features, colchicine should be commenced when two pathogenic alleles and family history of amyloidosis are present. Serum amyloid A testing at each visit is recommended in patients resistant to colchicine, with subclinical inflammation and family history of amyloidosis. Consensus was reached on both the definition of colchicine resistance and starting biologic in resistant cases. Cost, efficiency, ease of use, treatment adherence, accessibility and emergence of adverse events are the factors affecting the choice of biologic agents. In patients without any attack and evidence of subclinical inflammation within the last 6 months following initiation of biologics, treatment dose intervals can be prolonged. Conclusion A consensus was achieved regarding the routine diagnosis and screening and treatment of FMF patients. The definition of colchicine resistance was made and a protocol was created for prolongation of treatment intervals of biologic agents. We anticipate that the results of the study reveal real-life data on the approach to patients in clinical practice.

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Section: Discussionmentioning

confidence: 99%

Adherence to best practice consensus guidelines for familial Mediterranean fever: a modified Delphi study among paediatric rheumatologists in Turkey

et al. 2021

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“…In addition to these widespread vasculitis symptoms, some case reports on FMF patients with central nervous system vasculitis, coronary vasculitis, TA, Cogan syndrome, and cutaneous vasculitis. 36,37 In this study, FMF coexisted with cutaneous vasculitis in four patients, with TA in one patient and EGPA in one patient. As far as we know, no association between FMF and EGPA has been reported so far.…”

Section: Discussionmentioning

confidence: 50%

Relationship Between Familial Mediterranean Fever and Other Rheumatic Diseases: Coincidence or Coexistence?

Tezcan

Gülcemal

Limon

et al. 2022

Turkish Journal of Internal Medicine

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Background Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease affecting mainly the ethnic groups of the Mediterranean basin. It has been reported that it can coexist with various systemic inflammatory diseases. This study aimed to obtain information on rheumatic diseases that accompany FMF and evaluate the relation between FMF and such diseases. Material and MethodsEighty-four patients diagnosed with FMF and have rheumatic disease comorbidity in the rheumatology clinic between January 2018 -March 2020 were included in this study. ResultsThe most common accompanying rheumatic disease was spondyloarthritis (SpA) with 36 patients. Vasculitis was the second common disease accompanying FMF with 22, followed by connective tissue disease (CTD) in 18, juvenile idiopathic arthritis in 4, gout in 3, and hidradenitis suppurativa in 1 patients. The most common MEFV mutation observed was M694V. The rate of patients in the SPA group with signs of fever was significantly higher than those in the vasculitis group. The median C-reactive protein value of the patients in the vasculitis group was significantly higher than the CTD group. There was no statistically significant difference between disease groups regarding to other clinical manifestations and laboratory findings. There was no statistically significant association between disease groups and MEFV mutations regarding to genotype and allelic distribution. Conclusions In this study, the relation between FMF and various rheumatic diseases was determined. Two new conditions, eosinophilic granulomatous polyangiitis and scleroderma were detected. The associations may be just coincidental or an extension of the common underlying pathology. To be aware of this association is important to early diagnosis and appropriate treatment.

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“…Colchicine may not be effective in associated in ammatory diseases with FMF such as sacroiliitis and vasculitis and additional therapies to colchicine are usually needed [5,27]. In the literature, several studies and case reports presented that topical and systemic corticosteroids and other immunosuppressants in addition to colchicine were needed to control ocular in ammation in FMF patients because of their recurrent and chronic courses (Table 2).…”

Section: Discussionmentioning

confidence: 99%

“…Summary of patients with familial Mediterranean fever concurrent with ocular in ammatory diseases in the medical literature In ammatory Drug, OID: Ocular In ammatory Disease Previous studies have thoroughly studied the genotype and phenotype correlation in FMF and shown that identi ed mutations do not always correlate with the clinical manifestations. On the other hand, carrying M694V mutation has been associated with a relatively severe disease course, an early disease onset, and a higher risk for concomitant diseases[26,27]. Strikingly, M694V mutation has been the most frequently reported mutation in patients with FMF and OIDs in the literature…”

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confidence: 99%

Ocular inflammatory diseases in children with familial Mediterranean fever: a true association or a coincidence?

Avar-Aydın

Aydın

Özçakar

et al. 2021

Preprint

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Purpose: To describe the characteristics of patients with familial Mediterranean fever (FMF) concurrent with ocular inflammatory disease (OID) and to criticize possible relations between them.Methods: Clinical data were extracted from electronic medical records. Additionally, the medical literature on OIDs in FMF was reviewed.Results: Among 512 pediatric patients with FMF, five patients were found to have OIDs: bilateral chronic uveitis, recurrent orbital myositis (ROM), recurrent optic neuritis, and acquired Brown’s syndrome. The first cases of ROM and acquired Brown’s syndrome in FMF have been introduced in the literature. All patients presented with early-onset typical FMF attacks carried at least one M694V mutation and experienced OID while on colchicine. Conclusion: Increased frequency of OIDs in FMF as per the pediatric population and relapsing and chronic course of OIDs occasionally with concurrent FMF attacks suggest that this inflammatory syndrome especially those carrying M694V mutations may be a predisposing factor for OIDs.

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Comorbidities and phenotype–genotype correlation in children with familial Mediterranean fever

Cited by 33 publications

References 44 publications

Adherence to best practice consensus guidelines for familial Mediterranean fever: a modified Delphi study among paediatric rheumatologists in Turkey

Adherence to best practice consensus guidelines for familial Mediterranean fever: a modified Delphi study among paediatric rheumatologists in Turkey

Relationship Between Familial Mediterranean Fever and Other Rheumatic Diseases: Coincidence or Coexistence?

Ocular inflammatory diseases in children with familial Mediterranean fever: a true association or a coincidence?

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