Clinical, laboratory and molecular characteristics of children with Familial Mediterranean Fever-associated vasculitis

Tekin, F Yalç &#76 nkaya M

doi:10.1080/080352500750028799

Cited by 21 publications

(3 citation statements)

References 20 publications

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“…Familial Mediterranean fever (FMF) is a monogenic auto-inflammatory disease affecting the Mediterranean population and caused by mutations in the MEFV gene. FMF is characterized by recurrent febrile episodes, pleurisy, peritonitis, arthritis and rash and may be complicated by renal amyloidosis, although wide clinical variability may be present [5, 6]. Several studies reported an increase frequency of MEFV mutations among children of vasculitic and rheumatic diseases, like inflammatory bowel disease (IBD), polyarteritis nodosa (PAN), HSP and juvenile idiopathic arthritis (JIA) [7–9].…”

Section: Introductionmentioning

confidence: 99%

MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura

et al. 2014

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BackgroundDue to an increased frequency of vasculitis in FMF patients, many investigators have studied MEFV mutations in patients with HSP. The aim of the study is to investigate the frequency and clinical significance of MEFV mutations in Egyptian children with Henoch-Schonlein purpura (HSP). Investigating MEFV mutations in controls may help in estimating the prevalence of MEFV mutation carrier rate in Egyptian children.MethodsThe study enrolled 90 individuals, sixty children with Henoch-Schonlein purpura (HSP), together with 30 sex-and age-matched apparently healthy controls. The entire study group was screened for 12 common MEFV mutations using a reverse hybridization assay of biotinylated PCR products.ResultsPatients with HSP had a significantly higher frequency of MEFV mutations (61.7%), when compared to the apparently healthy control population (36.7%). V726A was the most frequent mutation with an allelic frequency of 10.8%. Ninety- one percent of patients with MEFV mutations were heterozygous for one mutation, while 8.1% had a compound heterozygous MEFV gene mutations. The mutation V726A, followed by E148Q, were the leading mutations, present in 16.6% and in 13.3% of controls.ConclusionsMEFV mutations may be related to HSP susceptibility in children. The mutations were not associated with any clinical and laboratory manifestations. Screening for MEFV mutations in larger number of HSP children may be beneficial to evaluate any possible relationship between certain types of MEFV mutations and HSP, and compare the HSP MEFV mutations to the types of MEFV mutations associated with FMF.Electronic supplementary materialThe online version of this article (doi:10.1186/1546-0096-12-41) contains supplementary material, which is available to authorized users.

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Section: Introductionmentioning

confidence: 99%

MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura

et al. 2014

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“…In addition, ulcerative colitis has been misdiagnosed as HSP [ 31 ], while Familial Mediterannean Fever (FMF) is also in the differential diagnosis. Frequently FMF patients develop HSP and a genetic association between FMF and HSP has been shown [ 32 , 33 ]. Laboratory tests such as ANA, anti-dsDNA or ANCA antibodies are usually negative in HSP, and their positivity may be suggestive of another diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Azathioprine therapy for steroid-resistant Henoch-Schönlein purpura: a report of 6 cases

et al. 2016

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BackgroundA small percentage of children with Henoch-Schönlein purpura (HSP) develop a chronic form of the disease that often requires prolonged corticosteroid therapy. Disease modifying anti-rheumatic agents (DMARDs) or biologics have been successfully used to treat those refractory cases. Azathioprine is a DMARD that has been reported to be effective in HSP nephritis and in adult cutaneous leukocytoclastic vasculitis, a condition with cutaneous histology similar to HSP.Case presentationA description of 6 cases with relapsing HSP without significant renal involvement, treated with azathioprine are reported. All 6 cases met the classification criteria for the diagnosis of HSP, had relapsing symptoms despite corticosteroid use, were successfully treated with azathioprine and were tapered off of corticosteroids. The duration of azathioprine therapy ranged from 7–21 months and no adverse events were reported.ConclusionsAzathioprine is effective in controlling prolonged relapsing symptoms of HSP, allowing earlier discontinuation of corticosteroids. This report shows that azathioprine can be included in the therapeutic options for relapsing HSP and is the first case series in the literature of azathioprine use in HSP without significant renal involvement.

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“…It is characterized by prolonged fever (4-6 weeks), elevated inflammatory markers, and severe generalized myalgia. Additional symptoms may include abdominal pain, arthritis/arthralgia, and a transient vasculitic rash [ 1 , 2 ]. PFMS responds well to nonsteroidal anti-inflammatory drugs (NSAIDs) or corticosteroid treatment [ 3 , 4 ].…”

Section: Introductionmentioning

confidence: 99%

Magnetic resonance findings may aid in diagnosis of protracted febrile myalgia syndrome: a retrospective, multicenter study

Aviran

Amarilyo

Lakovsky

et al. 2022

Orphanet J Rare Dis

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Background Protracted febrile myalgia syndrome (PFMS) is a rare complication of Familial Mediterranean fever (FMF). The diagnosis is based on clinical symptoms and is often challenging, especially when PFMS is the initial manifestation of FMF. The aim of this report was to describe the magnetic resonance imaging (MRI) findings in pediatric patients with PFMS. Results There were three girls and two boys ranging in age from 6 months to 16 years, all of Mediterranean ancestry. Three had high-grade fever, and all had elevated inflammatory markers. MRI of the extremities yielded findings suggestive of myositis, which together with the clinical picture, normal CPK levels, and supporting family history of FMF, suggested the diagnosis of PFMS. Out of most common MEFV mutations tested, one patient was homozygous for M694V mutation, three were heterozygous for M694V mutation, and one was compound heterozygous for the M694V and V726A mutations. Conclusions MRI may serve as an auxiliary diagnostic tool in PFMS.

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Clinical, laboratory and molecular characteristics of children with Familial Mediterranean Fever-associated vasculitis

Cited by 21 publications

References 20 publications

MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura

MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura

Azathioprine therapy for steroid-resistant Henoch-Schönlein purpura: a report of 6 cases

Magnetic resonance findings may aid in diagnosis of protracted febrile myalgia syndrome: a retrospective, multicenter study

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