Is colchicine more effective to prevent periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis episodes in Mediterranean fever gene variants?

Güneş, Muhammed; Çekiç, Şükrü; Kılıç, Sara Şebnem

doi:10.1111/ped.13265

Cited by 56 publications

(57 citation statements)

References 27 publications

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“…Concurrent and FMF and PFAPA syndrome have been reported frequently [ 30 , 31 ]. Evidence shows that colchicine is more efficient in PFAPA patients with underlying of MEFV mutation [ 32 – 34 ].…”

Section: Discussionmentioning

confidence: 99%

Familial Mediterranean Gene (MEFV) Mutation in Parents of Children with Familial Mediterranean Fever: What Are the Exceptions?

Shahbaznejad

Raeeskarami

Assari

et al. 2018

International Journal of Inflammation

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Objectives Familial Mediterranean Fever (FMF) is one of the most prevalent periodic fever syndromes; MEFV, the responsible gene for the disease, is in the short arm of chromosome16. In the considerable count of the FMF patients, only one mutation is found in the MEFV and parents, who were the obligatory carriers for that mutation, were asymptomatic. The aim of this study was to evaluate these asymptomatic parents in regard to mutation in MEFV gene and similarity between parents and offspring patients. Methods In this cross-sectional study, asymptomatic parents of FMF patients enrolled the study were referred to periodic fever clinic or pediatric rheumatology clinic of Tehran University of Medical Sciences. The patients should have at least one mutation in MEFV gene and none of them had any family history of autoinflammatory disease. Twelve mutations in MEFV gene were assessed in the parents by Vienna Lab FMF Strip Assay kit by MAS PCR/Reverse hybridization. Results Forty-three patients and their parents participated in the study. Sixty-three percent (27) of patients were male. Onset of disease symptoms in 31 patients (72%) was before 4 years of old. Nine (21%) of the patients had homozygote, 16 (37%) compound heterozygote, and 17(40%) heterozygote for MEFV mutation; there was a case of complex alleles mutations (2%). M694V/M694V in 4 patients (9%) was the most homozygote genotype, and M694V/R761H in 4 (9%) and E148Q in 7 (16%) were the most compound heterozygote and heterozygote genotype, respectively. M694V, M680I, and E148Q were the most mutation in the parents. Overall, 41 patients had mutations similar to their parents' mutation, except 2 whose parents had no mutation, but a patient did. Conclusion It seems that occurrence of new mutations in offspring is not prevalent among FMF patients and there are other reasons for different clinical presentation in similar mutation carriers. On the other hand, in ethnicities with high prevalence of FMF, new mutation in descendant may occur, infrequently.

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Section: Discussionmentioning

confidence: 99%

Familial Mediterranean Gene (MEFV) Mutation in Parents of Children with Familial Mediterranean Fever: What Are the Exceptions?

Shahbaznejad

Raeeskarami

Assari

et al. 2018

International Journal of Inflammation

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“…Some studies in the literature have reported an increased frequency of Mediterranean Fever ( MEFV ) gene mutations in patients with PFAPA syndrome. The frequency of the MEFV mutations in patients with PFAPA syndrome is reported to be 8%-66% ( 8 , 12 , 13 , 14 , 15 ). It has been reported that patients with PFAPA having MEFV mutations have shorter episodes, longer inter-episodic intervals, and lower corticosteroid dose requirement for the disease attacks cessation ( 16 , 17 , 18 ).…”

Section: Periodic Fever Aphthous Stomatitis Pharyngitis Adenitis Smentioning

confidence: 99%

“…Notably, being responsive to steroids can be accepted as a clue for diagnosis of PFAPA syndrome and trying the steroid treatment in patients with PFAPA syndrome suspicion may be logical. Colchicine has been shown to be effective in reducing the frequency of the episodes, with a more prominent effect in patients with MEFV mutation in some studies ( 11 , 14 , 15 ). Therefore, colchicine should be considered before performing tonsillectomy in a certain percent of PFAPA patients, especially those from regions endemic for FMF.…”

Section: Periodic Fever Aphthous Stomatitis Pharyngitis Adenitis Smentioning

confidence: 99%

Autoinflammatory Diseases in Childhood

Yıldız¹,

Haşlak²,

Adroviç³

et al. 2020

Balkan Med J

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Autoinflammatory diseases are characterized by recurrent fevers and clinical findings of impaired natural immunity and can involve various organ systems. The concept of autoinflammatory disease emerged after the definition of familial Mediterranean fever and tumor necrosis factor receptor-associated periodic syndrome. This new disease group was considered to differ from the standard concept of autoimmune diseases, which is relatively better known in terms of basic features, such as defects in innate immunity and the absence of antibodies. A better understanding has been achieved regarding the genetic and pathogenetic mechanisms of this relatively new disease group over the past 20 years since they were first diagnosed, which have led to some changes in the concept of autoinflammatory diseases. The recent definition classifies autoinflammatory disease to be a wide range of diseases with different clinical features, mainly accompanied by changes in innate immune and rarely in humoral immunity. The spectrum of autoinflammatory diseases is rapidly expanding owing to recent developments in molecular sciences and genetics. This review article discusses the clinical features, classification criteria, treatment options, and long-term prognosis of periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome, and other common autoinflammatory diseases in the light of current literature.

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“…Colchicine 1 mg/day was well tolerated and effective in prophylaxis of attacks, although it had to be given systematically as after a 10-week pause symptoms reappeared. Data published mainly from pediatric populations suggest that colchicine may be a treatment option [24–26]. Colchicine significantly prolonged the interval between episodes [24, 26].…”

Section: Discussionmentioning

confidence: 99%

Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome persisting to adulthood – an example of a diagnostic and therapeutic challenge

2019

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Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is the most common cause of periodic fever in childhood. Reports of adult patients are sparse. In adults the clinical picture is more heterogeneous than in children, so PFAPA can be a real diagnostic challenge. Data regarding treatment efficacy and disease outcome are available mainly for children, whereas for adult patients they are limited and conflicting. Our aim is to increase the awareness about PFAPA among clinical practitioners. We present a case of PFAPA beginning in childhood and without resolution of symptoms in maturity. In our case the diagnostic delay was 15 years. We treated the patient with a prophylactic dose of colchicine. Colchicine helped to control flares and significantly improved the patient's quality of life. Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis in adults is a rare disease, but it should be included in the differential diagnosis of fever of unknown origin in adults.

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Is colchicine more effective to prevent periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis episodes in Mediterranean fever gene variants?

Cited by 56 publications

References 27 publications

Familial Mediterranean Gene (MEFV) Mutation in Parents of Children with Familial Mediterranean Fever: What Are the Exceptions?

Familial Mediterranean Gene (MEFV) Mutation in Parents of Children with Familial Mediterranean Fever: What Are the Exceptions?

Autoinflammatory Diseases in Childhood

Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome persisting to adulthood – an example of a diagnostic and therapeutic challenge

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