&lt;p&gt;Neurological Manifestations in Familial Mediterranean Fever: a Genotype-Phenotype Correlation Study&lt;/p&gt;

Salehzadeh, Farhad; Ahad, Abdul; Motezarre, Maryam; Haghi, Roghayeh Nematdoust

doi:10.2147/oarrr.s238649

Cited by 11 publications

(13 citation statements)

References 24 publications

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“…Headache was found only in five of our patients which is in contrast with other Iranian and Turkish studies [38,45], while it was detected as a symptom of recurrent meningitis and pseudotumor cerebri and both are present in 9.7 % and 9% of our patients respectively. The presence of pseudotumor cerebri in conjunction with FMF has been described in the literature [46][47][48].…”

Section: Discussioncontrasting

confidence: 95%

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Musculoskeletal and neurological manifestations in a cohort of Egyptian Familial Mediterranean fever patients: genotype-phenotype correlation

Ahmed

Ibrahim

Ragab

et al. 2022

Egypt Rheumatol Rehabil

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Background Familial Mediterranean Fever (FMF) is a periodic auto-inflammatory disease with multiple systemic manifestations. This study aims to describe the various musculoskeletal and neurological manifestations in a cohort of Egyptian FMF patients and to evaluate their relation to the different Mediterranean fever gene (MEFV) mutations. Results This study involved 145 FMF patients, of them 62.1% were females and 31.7% were of the pediatric age. All involved patients had homozygous MEFV gene mutation. The presenting manifestation in 71.9% of these patients was abdominal pain followed by musculoskeletal manifestations in 35.2% of them. 38.6 % of the involved patients had arthritis during the period of follow-up. Monoarthritis was the most frequent pattern of arthritis. Arthralgia was present in 96.6% of the studied patients. Myalgia was present in 19.3% of the studied patients especially involving the lower limb muscles with one case of protracted febrile myalgia. Neurological manifestations were present in about 86.9 % of patients with vertigo, paresthesia, and seizures as the most common. Five major MEFV gene mutations were found in most of the studied patients (135 patients): M694V, M680I, E148Q, V726A, and M694I. When a comparative study was done between these five major mutations according to the age of onset of the symptoms, different musculoskeletal and neurological manifestations, ESR, serum amyloid level and dose of colchicine, no statistical difference was found. Conclusion Musculoskeletal manifestation is the second most common presenting symptom in a cohort of Egyptian FMF patients after abdominal pain. Arthralgia is the most frequent musculoskeletal manifestation while monoarthritis of the knee or ankle joint is the most common pattern of arthritis in FMF patients. Vertigo, paresthesia, and seizures are the most frequent neurological manifestations. Musculoskeletal manifestations, neurological manifestations, serum amyloid level, and dose of colchicine are not related to the type of the genetic mutation in this cohort.

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Section: Discussioncontrasting

confidence: 95%

“…Regarding neurological manifestation, vertigo was the most common neurological symptom as it was detected in about 22.8% of the studied patients, followed by paresthesia and seizures. This was in accordance with a recent Iranian publication that detected vertigo in 27.7% of FMF patients and reported it as a common presentation in FMF [38].…”

Section: Discussionsupporting

confidence: 93%

Musculoskeletal and neurological manifestations in a cohort of Egyptian Familial Mediterranean fever patients: genotype-phenotype correlation

Ahmed

Ibrahim

Ragab

et al. 2022

Egypt Rheumatol Rehabil

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“…[33][34][35] We reported recently neurological manifestation of familial Mediterranean fever as a separate study. 36 FMFassociated central nervous system (CNS) involvement includes demyelinating lesions, stroke, and posterior reversible leukoencephalopathy syndrome (PRES). Different studies showed that MS patients with MEFV mutations seem to develop a more progressive disease and it seems that MEFV mutations may increase the risk of MS progression.…”

Section: Neurological Diseasementioning

confidence: 99%

<p>Coexisting Diseases in Patients with Familial Mediterranean Fever</p>

Salehzadeh¹,

Moghaddam²

2020

OARRR

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Background and Aims: Familial Mediterranean fever (FMF) is a prototype of autoinflammatory disease and mainly associated with MEFV gene mutations. This single-center study as an experience represents FMF-coexisting disease in the FMF registration database. Methods: Four hundred patients who had FMF based on clinical criteria (Tel-Hashomer) and/or MEFV mutations enrolled the study. Twelve most common MEFV mutations (P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q) were analyzed if needed by the reverse hybridization assay. Any coexisted disease had been confirmed by a related subspecialist. All data were analyzed by a simple analytical method. Results: Fifty-seven (14%) patients had associated disease, 32 patients were male and 24 patients were under 10 years old. They included 92 MEFV variant alleles and only in five patients there were not any mutations. The most common variant alleles were M694V (36%), E148Q (22%), V726A (17%), M680I (1%) and M694I (0.07%) respectively. Rheumatologic disorders were the most common coexisting disease, then followed by gastrointestinal and neurological disorders. Some rare diseases such as TTP, growth hormone deficiency, multiple sclerosis, idiopathic ascites, Leiden factor V deficiency and Felty syndrome have been detected. Homozygote mutations of (M694V-M694V) were associated with idiopathic ascites, orchitis and pericarditis. Conclusion: Coexisting disease in patients with FMF is presented with positive MEFV gene mutations particularly with these five common variant alleles: M694V, E148Q, V726A, M680I, and M694I. The commonly associated diseases are rheumatologic, gastrointestinal and CNS disorders.

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“…Overall, the heterogeneity in clinical FMF manifestations reflects the changes occurring in the repertoire of mutations. Genotype–phenotype relationships are also important to characterize specific clinical aspects of FMF, such as neurological manifestations [ 47 ].…”

Section: Uncertainty Analysis and Rare Diseasesmentioning

confidence: 99%

Multifactorial Rare Diseases: Can Uncertainty Analysis Bring Added Value to the Search for Risk Factors and Etiopathogenesis?

Taruscio

Mantovani

2021

Medicina

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Uncertainty analysis is the process of identifying limitations in knowledge and evaluating their implications for scientific conclusions. Uncertainty analysis is a stable component of risk assessment and is increasingly used in decision making on complex health issues. Uncertainties should be identified in a structured way and prioritized according to their likely impact on the outcome of scientific conclusions. Uncertainty is inherent to the rare diseases (RD) area, where research and healthcare have to cope with knowledge gaps due to the rarity of the conditions; yet a systematic approach toward uncertainties is not usually undertaken. The uncertainty issue is particularly relevant to multifactorial RD, whose etiopathogenesis involves environmental factors and genetic predisposition. Three case studies are presented: the newly recognized acute multisystem inflammatory syndrome in children and adolescents associated with SARS-CoV-2 infection; the assessment of risk factors for neural tube defects; and the genotype–phenotype correlation in familial Mediterranean fever. Each case study proposes the initial identification of the main epistemic and sampling uncertainties and their impacts. Uncertainty analysis in RD may present aspects similar to those encountered when conducting risk assessment in data-poor scenarios; therefore, approaches such as expert knowledge elicitation may be considered. The RD community has a main strength in managing uncertainty, as it proactively develops stakeholder involvement, data sharing and open science. The open science approaches can be profitably integrated by structured uncertainty analysis, especially when dealing with multifactorial RD involving environmental and genetic risk factors.

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<p>Neurological Manifestations in Familial Mediterranean Fever: a Genotype-Phenotype Correlation Study</p>

Cited by 11 publications

References 24 publications

Musculoskeletal and neurological manifestations in a cohort of Egyptian Familial Mediterranean fever patients: genotype-phenotype correlation

Musculoskeletal and neurological manifestations in a cohort of Egyptian Familial Mediterranean fever patients: genotype-phenotype correlation

<p>Coexisting Diseases in Patients with Familial Mediterranean Fever</p>

Multifactorial Rare Diseases: Can Uncertainty Analysis Bring Added Value to the Search for Risk Factors and Etiopathogenesis?

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