Atypical type of familial Mediterranean fever: An underdiagnosed cause of chronic aseptic meningitis

Sugie, Masayuki; Ouchi, Takahiro; Kishida, Dai; Yasaki, Shunji

doi:10.1111/ncn3.12232

Cited by 9 publications

(6 citation statements)

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“…Capton et al proposed diagnostic criteria for recurrent meningitis related to FMF, as follows: (a) Episodes of RAM due to FMF should be accompanied by other clinical or biological features of FMF attacks; (b) colchicine should prevent or lessen episodes; and (c) other classical causes of RAM should be excluded (9). In a systematic review investigating the association between FMF and RAM, there were only five confirmed cases of FMF and RAM (including the present case), although the differential diagnosis mentioned above was incomplete in three cases (10)(11)(12)(13) (Table). In previous case reports, the authors failed to sufficiently exclude or describe the exclusion of other diseases (11,13).…”

Section: Discussionmentioning

confidence: 79%

“…In a systematic review investigating the association between FMF and RAM, there were only five confirmed cases of FMF and RAM (including the present case), although the differential diagnosis mentioned above was incomplete in three cases (10)(11)(12)(13) (Table). In previous case reports, the authors failed to sufficiently exclude or describe the exclusion of other diseases (11,13). Despite the relatively short observation period following colchicine treatment in the present case, our patient has experienced no recurrence to date.…”

Section: Discussionmentioning

confidence: 79%

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Familial Mediterranean Fever Is Important in the Differential Diagnosis of Recurrent Aseptic Meningitis in Japan

et al. 2020

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Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by a recurrent fever and multiple serositis. In the present report, we discuss the case of a 42-year-old man diagnosed with FMF accompanied by recurrent aseptic meningitis (RAM). The patient experienced RAM at intervals of several years without any serositis or synovitis. We detected Mediterranean fever (MEFV) gene mutations (E148Q homozygotes) and diagnosed FMF in perfect accordance with clinical diagnostic criteria. FMF, in which RAM is a major symptom, has also been described in previous reports. Therefore, FMF should be considered in the differential diagnosis of causative diseases for RAM.

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Section: Discussionmentioning

confidence: 79%

Section: Discussionmentioning

confidence: 79%

Familial Mediterranean Fever Is Important in the Differential Diagnosis of Recurrent Aseptic Meningitis in Japan

et al. 2020

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“…However, in Japan, there are more patients with FMF, carrying heterozygous mutations in the MEFV gene than those carrying homozygous mutations [3]. In addition, in a limited number of cases with a heterozygous MEFV p.Ser503Cys exon 5 variant, the patients have been phenotypically diagnosed with atypical FMF (Table 2) [9][10][11]. It remains perplexing why patients with heterozygous MEFV p.Ser503Cys exon 5 variant present atypical FMF manifestations.…”

Section: Discussionmentioning

confidence: 99%

“…Our patient had frequent complaints of headache, which is not included in the symptoms of FMF. We did not perform further evaluation of his cerebrospinal fluid; however, a study reported an atypical FMF patient with compound heterozygous mutations in exons 2 and 5 (E148Q/S503C) in MEFV who experienced recurrent headache due to chronic aseptic meningitis [ 9 ]. Although it is difficult to strongly suggest from such a small number of cases, it is possible that headache due to aseptic meningitis is one of the complications in atypical FMF, and atypical FMF could be a differential diagnosis in periodic fever patients with headaches.…”

Section: Discussionmentioning

confidence: 99%

Atypical Familial Mediterranean Fever in a Japanese Boy with Heterozygous MEFV p.Ser503Cys Exon 5 Variant

Satô

Takezaki

Goto

et al. 2021

Case Reports in Pediatrics

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Periodic fever syndromes are heterogeneous diseases. Familial Mediterranean fever (FMF) is one of the hereditary periodic fever diseases caused by a Mediterranean fever (MEFV) gene abnormality. FMF can be categorized as typical or atypical, based on clinical findings and genetic screening. Atypical FMF has a wide variation of clinical findings and disease-causing mutations of MEFV. Therefore, it is sometimes difficult to diagnose an unknown fever as FMF. To date, a large number of various typical and atypical FMF cases have been reported in Japan. Here, we describe a Japanese boy with heterozygous MEFV p.Ser503Cys exon 5 variant who developed periodic fever. He was treated with colchicine; a complete eradication of his fever and various accompanying symptoms have been subsequently achieved for more than a year. Given that there have been a few reports about patients with this variant, little is known about the genetic and phenotypic role of heterozygous MEFV p.Ser503Cys exon 5 variant. It is therefore imperative to consider atypical FMF as a differential diagnosis when a periodic fever is encountered. Furthermore, we suggest that it is worthwhile to integrate MEFV gene analysis with the potential effects of colchicine treatment in patients with periodic fever.

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“…Pubmed/MEDLINE was queried for "familial Mediterranean fever" and "aseptic meningitis". Articles involving patients with FMF suffering from aspetic meningitis, recurrent or single episode -were included 8,9,10,11,12 .…”

Section: Case Presentationmentioning

confidence: 99%

Il-1antagonist Treatment in Recurrent Aseptic Meningitis Related to Familial Mediterranean Fever

Livny

Bitterman

Brik

et al. 2020

Preprint

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Background Familial Mediterranean fever (FMF) is an autosomal recessive, auto-inflammatory disease, presenting with recurrent bouts of fever and polyserositis. FMF has been associated with central nervous system (CNS) manifestations such as Headache and Myalgia. The occurrence of other forms of nervous system involvement is rare, including seizures, sinus vein thrombosis, pseudotumor cerebri and more. There are only few case reports of aseptic meningitis due to FMF. Case presentation We present the case of a 14 year-old girl diagnosed with FMF, who experienced recurrent episodes of severe headache and aseptic meningitis while on maximal dose of colchicine therapy. She had a dramatic response to anakinra with symptoms resolving completely within a few days without recurrence. Subsequently, we identified seven cases in the literature describing recurrent aseptic meningitis in patients with underlying FMF; all showed response to colchicine treatment, without treatment failure. Conclusion Our case suggests a role for Interleukin 1 (IL-1) antagonists for cases of CNS involvement secondary to FMF in patients who fail to respond to colchicine, and might imply that anakinra could be effective in other auto-inflammatory diseases with CNS involvement.

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Atypical type of familial Mediterranean fever: An underdiagnosed cause of chronic aseptic meningitis

Cited by 9 publications

References 4 publications

Familial Mediterranean Fever Is Important in the Differential Diagnosis of Recurrent Aseptic Meningitis in Japan

Familial Mediterranean Fever Is Important in the Differential Diagnosis of Recurrent Aseptic Meningitis in Japan

Atypical Familial Mediterranean Fever in a Japanese Boy with Heterozygous MEFV p.Ser503Cys Exon 5 Variant

Il-1antagonist Treatment in Recurrent Aseptic Meningitis Related to Familial Mediterranean Fever

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