Criteria for the diagnosis of familial mediterranean fever

Livneh, Avi; Langevitz, Pnina; Zemer, Deborah; Zaks, Nurit; Kees, Salim; Lidar, Tzvi; Migdal, A; Padeh, Shai; Pras, Mordechai

doi:10.1002/art.1780401023

Cited by 1,366 publications

(823 citation statements)

References 16 publications

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“…The FMF episodes experienced by the patient, which started at the age of 15 years, met the criteria proposed by Livneh et al (20). There was no family history of FMF or other hereditary recurrent fever syndromes.…”

Section: Resultsmentioning

confidence: 76%

PYPAF1 nonsense mutation in a patient with an unusual autoinflammatory syndrome: Role of PYPAF1 in inflammation

Jéru

Hayrapetyan

Duquesnoy

et al. 2006

Arthritis & Rheumatism

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Objective. To gain insight into the pathophysiology of an unusual autoinflammatory syndrome, in a patient of Armenian origin, that mimicked familial Mediterranean fever (FMF) but with episodes triggered by generalized exposure to cold, and to further elucidate the controversial function of the protein encoded by PYPAF1, whose mutations (exclusively missense to date) have been identified in 3 hereditary recurrent fever syndromes.Methods. The patient's DNA was screened for mutations in both MEFV, the gene responsible for FMF, and PYPAF1. The ability of different recombinant PYPAF1 isoforms, expressed in HEK 293 cells, to regulate NF-B signaling was subsequently assessed.Results. No disease-causing mutation was found in MEFV. However, a nonsense mutation (p.Arg554X) was identified in PYPAF1; this defect resulted in a truncated protein lacking all leucine-rich repeats. Study of the wild-type and mutant PYPAF1 recombinant proteins revealed that PYPAF1 inhibited NF-B proinflammatory pathways, and that the identified nonsense mutation impaired this property.Conclusion. These molecular and clinical findings, together with the clinical manifestations in the patient, which call into question the current nosology of the hereditary recurrent fever syndromes, are consistent with the hypothesis that PYPAF1 acts as an inhibitor of NF-B signaling. They also provide a clear elucidation of the functional consequences of this nonsense PYPAF1 mutation not previously described in the literature, which result in a partial loss of function and may thereby explain the pathophysiology of the autoinflammatory syndrome observed in this patient.

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Section: Resultsmentioning

confidence: 76%

PYPAF1 nonsense mutation in a patient with an unusual autoinflammatory syndrome: Role of PYPAF1 in inflammation

Jéru

Hayrapetyan

Duquesnoy

et al. 2006

Arthritis & Rheumatism

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“…Mean duration of the disease was 125.54 ± 53 months, and the mean duration of medical care was 47.1 ± 34.31 months. All patients fulfilled the Tel-Hashomer diagnostic criteria for FMF (Livneh et al 1997) and they were also taking colchicine 1-2.5 mg/day. The total number of the FMF attacks was recorded according to the patients' reports before and after the SSRI treatment, adjunct to colchicine (Table 1).…”

Section: Methodsmentioning

confidence: 99%

“…However, there are no data available in this regard. We noticed are our clinic that one of our FMF patients, who had been diagnosed according to the Tel-Hashomer criteria (Livneh et al 1997), had no FMF attack for one year without using colchicine but only paroxetine, a selective serotonin re-uptake inhibitor (SSRI) (Ozcakar et al 2005). Before paroxetine the patient had had 4-5 attacks per month despite regular 2 g/day colchicine.…”

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confidence: 95%

Selective Serotonin Reuptake Inhibitors Reduce the Attack Frequency in Familial Mediterranean Fever

Onat

Öztürk

Özçakar

et al. 2007

Tohoku J. Exp. Med.

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Familial Mediterranean Fever (FMF) is characterized by recurrent acute attacks of fever and serositis, and colchicine is the primary treatment. The pathogenesis of the disease has not been fully understood. Resistance to colchicine remains to be a problem in up to 30% of the patients and yet there seems to be no alternative treatment. In this study our objective was to investigate whether a selective serotonin re-uptake inhibitor (SSRI) could affect the attack frequency and acute phase response in FMF patients who were unresponsive to colchicine. We retrospectively evaluated the hospital files of 11 colchicineunresponsive FMF patients who had been treated with SSRIs. According to the records and re-evaluation of the patients, the total number of the FMF attacks was calculated before and after the SSRI, adjunct to colchicine. The laboratory values including erythrocyte sedimentation rate, C-reactive protein, fibrinogen and white blood cell counts were also noted before and after the SSRI treatment from their hospital files. The mean attack frequency before adding SSRI to colchicine was 8.09 ± 3.53 per 6 months, and at the end of this period there was a great decline in the number of mean attack frequency (0.36 ± 0.50 attacks per 6 months) ( p < 0.001). Acute phase reactants were significantly decreased after SSRI treatment ( p < 0.001). All of the colchicine-unresponsive patients had depression and 3 of those patients also had fibromyalgia. SSRIs appear to be useful adjuncts in the management of FMF patients who continue to have attacks despite regular colchicine treatment.

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“…Following agreement to participate, patients were scheduled to undergo the SAECG testing and received instructions for preparation. To be included, a patient had to be older than 18 years, meet the criteria for diagnosis of FMF (2), and sign an informed consent. Patients were excluded if they suffered from any known form of cardiac disease.…”

Section: Study Patients and Inclusion And Exclusion Criteriamentioning

confidence: 99%

“…Familial Mediterranean fever (FMF) is the most common inherited periodic autoinflammatory illness, affecting a patient population estimated at 120,000 worldwide, mostly of a Mediterranean origin (1,2). Clinically, FMF is characterized by self-limited attacks of severe inflammation with fever and sterile serositis, each lasting up to 4 days (3)(4)(5)(6).…”

Section: Introductionmentioning

confidence: 99%

Late ventricular potentials in familial Mediterranean fever with and without AA amyloidosis

Nussinovitch¹,

Livneh²

2017

Eur J Rheumatol

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Data on increased rhythm and conduction disturbances in FMF are limited and conflicting. For instance, Akcay et al. (13) found that QT dispersion (QTd) and corrected dispersion (QTcd), which reflect cardiac repolarization heterogeneity and thereby suggest predisposition for cardiac arrhythmias, are increased in uncomplicated FMF. However, different methodologies have yielded normal QTd results in both uncomplicated and amyloidosis-affected FMF patients (14, 15). Limited information is found on depolarization-associated markers for arrhythmias. Low-amplitude, high-frequency waves-termed late ventricular potentials (LPs)-can be detected immediately adjacent to the QRS complex by signal-averaged electrocardiography Udi Nussinovitch 1 , Avi Livneh 2,3Original Article Abstract Objective: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by episodic and chronic inflammation that may lead to both accelerated coronary atherosclerosis and cardiac AA amyloidosis. We hypothesized that late ventricular potentials (LPs), an established electrocardiographic susceptibility marker of ventricular arrhythmias, will be more common in FMF than in the adjusted normal population due to these two types of inflammation-associated cardiac effects. Therefore, we aimed to evaluate the occurrence of LPs in FMF patients with and without amyloidosis.Material and Methods: Signal-averaged electrocardiography was performed in consecutive patients with FMF using the Frank corrected orthogonal lead system. At least 200 consecutive beats were digitally recorded and averaged, and the presence of LPs was determined according to acceptable thresholds.Results: There were 54 patients with colchicine-treated FMF, of whom 14 had biopsy-proven AA amyloidosis. None of the uncomplicated FMF patients and 2 of the 14 FMF amyloidosis patients had abnormal or borderline LPs. Conclusion:Based on LPs as a susceptibility marker for arrhythmia, FMF patients, including the large majority of FMF patients with amyloidosis, are seemingly not at an increased risk to develop arrhythmias.

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Criteria for the diagnosis of familial mediterranean fever

Cited by 1,366 publications

References 16 publications

PYPAF1 nonsense mutation in a patient with an unusual autoinflammatory syndrome: Role of PYPAF1 in inflammation

PYPAF1 nonsense mutation in a patient with an unusual autoinflammatory syndrome: Role of PYPAF1 in inflammation

Selective Serotonin Reuptake Inhibitors Reduce the Attack Frequency in Familial Mediterranean Fever

Late ventricular potentials in familial Mediterranean fever with and without AA amyloidosis

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