Inflammatory/demyelinating Central Nervous System Involvement in Familial Mediterranean Fever (FMF): Coincidence or Association?

Overview

Journal J Neurol

Specialty Neurology

Date 2006 Mar 3

PMID 16511642

Citations 20

Authors

G Akman-Demir

A Gul

E Gurol

H Ozdogan

S Bahar

A E Oge

H Gurvit

G Saruhan-Direskeneli

H Yazici

M Eraksoy

Affiliations

Soon will be listed here.

Abstract

Background And Objective: Familial Mediterranean fever (FMF) is an inherited inflammatory disease characterized by recurrent febrile polyserositis. Central nervous system (CNS) involvement in FMF is uncommon, but recently cases with multiple sclerosis (MS) and FMF have been reported. Here we assess patients with both FMF and MS, in order to clarify any relationship between FMF and MS, and to evaluate disease characteristics.

Patients And Methods: Our MS database between 1986-2005 was screened retrospectively, and patients with both FMF and inflammatory/demyelinating CNS disease were evaluated among a total of 2800 patients including definite MS (n = 2268) and other demyelinating disorders.

Results: There were 12 patients with FMF, who developed a CNS disorder with multifocal white matter lesions. Median age at onset of FMF was 7 years, and median age at neurological onset was 26.8 years. Nine patients (including two siblings) had definite MS according to clinical and MRI findings, whereas 3 patients had atypical features suggesting other demyelinating disorders. Disease severity varied among the patients between very mild to a fatal course. All 8 patients evaluated for oligoclonal IgG bands in CSF were positive.

Conclusion: The rate of FMF among our patients with definite MS is almost 4 times the expected prevalence in Turkey. Our series including a sibling pair concordant for FMF and MS may suggest that similar genetic susceptibility and environmental factors might be responsible, although coincidence still remains a possibility. A prospective study on a larger sample seems to be justified.

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References

Dean G, Aksoy H, Akalin T, Middleton L, Kyriallis K . Multiple sclerosis in the Turkish- and Greek-speaking communities of Cyprus. A United Nations (UNHCR) Bicommunal Project. J Neurol Sci. 1997; 145(2):163-8. DOI: 10.1016/s0022-510x(96)00255-9. View

. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. Cell. 1997; 90(4):797-807. DOI: 10.1016/s0092-8674(00)80539-5. View

Touitou I, Lesage S, McDermott M, Cuisset L, Hoffman H, Dode C . Infevers: an evolving mutation database for auto-inflammatory syndromes. Hum Mutat. 2004; 24(3):194-8. DOI: 10.1002/humu.20080. View

Lossos A, Eliashiv S, Ben-Chetrit E, Reches A . Optic neuritis associated with familial Mediterranean fever. J Clin Neuroophthalmol. 1993; 13(2):141-3. View

Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T . Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum. 1997; 40(10):1879-85. DOI: 10.1002/art.1780401023. View

Topcuoglu M, Karabudak R . Familial Mediterranean fever and multiple sclerosis. J Neurol. 1997; 244(8):510-4. DOI: 10.1007/s004150050134. View

Eraksoy M, Kurtuncu M, Akman-Demir G, Kilinc M, Gedizlioglu M, Mirza M . A whole genome screen for linkage in Turkish multiple sclerosis. J Neuroimmunol. 2003; 143(1-2):17-24. DOI: 10.1016/j.jneuroim.2003.08.006. View

Topaloglu R, Saatci U, Bakkaloglu A, Besbas N, Bassoy Y . Evaluation of the hypercoagulable state by measuring protein C and antithrombin III levels in nephrotic syndrome and in familial Mediterranean fever-related amyloidosis. Turk J Pediatr. 1992; 34(1):15-20. View

Eraksoy M, Hensiek A, Kurtuncu M, Akman-Demir G, Kilinc M, Gedizlioglu M . A genome screen for linkage disequilibrium in Turkish multiple sclerosis. J Neuroimmunol. 2003; 143(1-2):129-32. DOI: 10.1016/j.jneuroim.2003.08.027. View

10.

Ozdogan H, Arisoy N, Kasapcapur O, Sever L, Caliskan S, Tuzuner N . Vasculitis in familial Mediterranean fever. J Rheumatol. 1997; 24(2):323-7. View

11.

Shinar Y, Livneh A, Villa Y, Pinhasov A, Zeitoun I, Kogan A . Common mutations in the familial Mediterranean fever gene associate with rapid progression to disability in non-Ashkenazi Jewish multiple sclerosis patients. Genes Immun. 2003; 4(3):197-203. DOI: 10.1038/sj.gene.6363967. View

12.

Eliakim M, BENTAL E . Recurrent polyserositis ("periodic disease"). Electroencephalographic changes. Arch Intern Med. 1961; 108:91-9. DOI: 10.1001/archinte.1961.03620070093012. View

13.

Chataway J, Feakes R, Coraddu F, Gray J, Deans J, Fraser M . The genetics of multiple sclerosis: principles, background and updated results of the United Kingdom systematic genome screen. Brain. 1998; 121 ( Pt 10):1869-87. DOI: 10.1093/brain/121.10.1869. View

14.

Ozen S, Karaaslan Y, Ozdemir O, Saatci U, Bakkaloglu A, Koroglu E . Prevalence of juvenile chronic arthritis and familial Mediterranean fever in Turkey: a field study. J Rheumatol. 1998; 25(12):2445-9. View

15.

Tinaztepe K, Gucer S, Bakkaloglu A, Tinaztepe B . Familial Mediterranean fever and polyarteritis nodosa: experience of five paediatric cases. A causal relationship or coincidence?. Eur J Pediatr. 1997; 156(6):505-6. View

16.

Yucesan C, Canyigit A, Turkcapar N . The coexistence of familial Mediterranean fever with multiple sclerosis. Eur J Neurol. 2004; 11(10):716-7. DOI: 10.1111/j.1468-1331.2004.00877.x. View

17.

Thorpe J, Kidd D, Moseley I, Thompson A, MacManus D, Compston D . Spinal MRI in patients with suspected multiple sclerosis and negative brain MRI. Brain. 1996; 119 ( Pt 3):709-14. DOI: 10.1093/brain/119.3.709. View

18.

Babior B, Matzner Y . The familial Mediterranean fever gene--cloned at last. N Engl J Med. 1997; 337(21):1548-9. DOI: 10.1056/NEJM199711203372112. View

19.

Karabudak R, Dogulu C, Nurlu G, Simsek H, Saatci I . Central nervous system demyelination in familial Mediterranean fever: is it a coincidence?. Eur J Neurol. 2003; 10(3):327-8. DOI: 10.1046/j.1468-1331.2003.00572.x. View

20.

SCHWABE A, Monroe J . Meningitis in familial Mediterranean fever. Am J Med. 1988; 85(5):715-7. DOI: 10.1016/s0002-9343(88)80248-1. View