Neurological Face of Familial Mediterranean Fever

Cetın, Nuran; Yarar, Çoşkun; Çarman, Kürşat Bora

doi:10.5152/turkarchpediatr.2022.21368

Cited by 3 publications

(2 citation statements)

References 36 publications

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“…However, the genetic aetiology of FMF is complex; it is not only caused by pathogenic variations, PPVs and VUSs, but also by the interaction with epigenetic factors and other genes [ 9 ]. Neurological symptoms defined in FMF are headache, myalgia, syncope, recurrent meningitis, vertigo, seizures, paraesthesia, demyelinating diseases, cerebrovascular diseases, posterior encephalopathy, prolongation of subclinical visual evoked potentials, pseudotumor cerebri and optic neuritis [ 5 ]. In a previous study reviewing risky genes for dystonia, the MEFV gene was not listed [ 6 ].…”

Section: Discussionmentioning

confidence: 99%

“…The genetic aetiology of FMF is complex, as epigenetic factors and interactions with other genes occur [ 4 ]. It was reported that neurological disorders are also detected as well as the symptoms of FMF in patients with MEFV variations, but dystonia is not among these symptoms [ 5 ]. In a large-scale review [ 6 ], genes with risk factors for dystonia were identified, but MEFV was not included in this list.…”

Section: Introductionmentioning

confidence: 99%

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Familial Mediterranean fever gene variations could trigger VPS16-associated early-onset dystonia and diabetes mellitus: clinical identification of a family with MEFV and VPS16 genetic variation association

Inalkac Gemici,

Ekici,

Batum

et al. 2024

Rheumatology Advances in Practice

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Objectives We described the clinical pictures of an index case with dystonia and his family resulting from VPS16 and MEFV genetic variations based on previously published data and discussed the mechanisms that may have brought out the clinical findings. Methods In a 17-year-old male who had generalized dystonia started at age six had nonfebrile abdominal pain attacks and was diagnosed with type 1 diabetes at age 14. Meanwhile, his 13 year-old sister had the same clinical presentation. His father was diabetic and his mother was asymptomatic. There was no consanguinity between the parents. Genetic variations detected with whole exome sequencing. Results VPS16 c.1513C>T/p. Arg505*(likely pathogenic), MEFV c.2080A>G p. Met694val (pathogenic), MEFV c.1772T>C p. Ile591Thr (unknown significance) heterozygous variants were detected in siblings. Father had VPS16 c.1513C>T/p Arg505*, MEFV c.2080A>G p Met694val variations and mother had MEFV c.1772T>C p. Ile591Thr variations. Conclusion The occurrence of these diseases in siblings but in the absence of parents suggests the idea that the coexistence of two separate variations in the VPS16 and MEFV genes determines the phenotype. In addition, the increase in MEFV variation load in this family and the fact that DM occurs at an earlier age suggest that inflammation may cause early diabetic clinical presentation.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Familial Mediterranean fever gene variations could trigger VPS16-associated early-onset dystonia and diabetes mellitus: clinical identification of a family with MEFV and VPS16 genetic variation association

Inalkac Gemici,

Ekici,

Batum

et al. 2024

Rheumatology Advances in Practice

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Neurological manifestations among Egyptian children with familial Mediterranean fever

Abu Shady,

Osman,

Elshennawy

et al. 2024

Egypt Rheumatol Rehabil

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Background Familial Mediterranean fever (FMF) is an auto-inflammatory periodic disorder resulting from mutations in the Mediterranean fever gene. Although it is considered a polyserositis disease, neurological-associated symptoms were also reported among different populations. Aim of the work To detect the frequency of neurological manifestations among Egyptian children with FMF and to investigate its association with various disease characteristics and various FMF gene mutations. Patients and methods This is an analytical cross-sectional study that enrolled 300 FMF children. Neurological manifestations such as headache, paresthesia, convulsions, tremors, breath-holding attacks, and syncope were reported. The dose, duration, and compliance with colchicine and the international severity scoring system for FMF (ISSF) were recorded. Serum amyloid A and gene mutations were recorded from patients’ files. Results The mean age of the patients was 10.35 ± 2.89 years; 158 (52.7%) were females, and 142 (47.3%) were males (F:M, 1.1:1), age at onset 4.67 ± 2.35 years and disease duration 3.28 ± 1.31 years. Genetic testing revealed positive MEFV gene mutation in 89.3%. Serum amyloid A was elevated in 33.7%. All patients were treated with colchicine, and 81.3% were compliant. Neurological manifestations were detected in 160 (53.3%) patients. Headache was the most common symptom in 136 (45.3%), followed by paraesthesia in 76 (25.3%). Epilepsy was present in 7 (2.3%) cases. Headaches were most frequent among patients with compound heterozygous mutation, severe ISSF scores, and poor compliance with colchicine. Conclusion Egyptian children with FMF present with various neurological manifestations. Headache and paresthesia were the most frequent, especially with the compound heterozygous mutations, severe ISSF score, and among colchicine non-compliant patients. Rheumatologists and neurologists should be aware of these manifestations and address the importance of disease control and adherence to colchicine to avoid or decrease these manifestations. Persistent unexplained headache or other neurological manifestations, in the presence of other symptoms suggestive of FMF or high serum amyloid A, should raise suspicion of FMF, and genetic testing should be requested. A multidisciplinary approach must be considered when managing these children.

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Challenges in diagnosing familial Mediterranean fever: exploring atypical clinical features. Clinical case

Barsuk,

Novikov,

Mikhalina

et al. 2024

Terapevticheskii arkhiv

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This clinical case series presents descriptions of 3 patients with familial Mediterranean fever (FMF) who have atypical manifestations and abnormal inheritance mechanisms in terms of Gregor Mendel's laws. Although molecular genetic testing can help with disease diagnosis, it is not always conclusive. The primary need for genetic testing in atypical cases is to explain the mechanism of inflammation and to select the optimal therapy. These clinical observations demonstrate the changes in the spectrum of phenotypic manifestations of FMF in the context of the widespread introduction of molecular genetic methods.

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Neurological Face of Familial Mediterranean Fever

Cited by 3 publications

References 36 publications

Familial Mediterranean fever gene variations could trigger VPS16-associated early-onset dystonia and diabetes mellitus: clinical identification of a family with MEFV and VPS16 genetic variation association

Familial Mediterranean fever gene variations could trigger VPS16-associated early-onset dystonia and diabetes mellitus: clinical identification of a family with MEFV and VPS16 genetic variation association

Neurological manifestations among Egyptian children with familial Mediterranean fever

Challenges in diagnosing familial Mediterranean fever: exploring atypical clinical features. Clinical case

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