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

2020 ◽  
Author(s):  
Ruth Livny ◽  
Yuval Bitterman ◽  
Riva Brik ◽  
Yonatan Butbul Aviel
Keyword(s):  
Nervous System ◽  
Familial Mediterranean Fever ◽  
Aseptic Meningitis ◽  
Inflammatory Diseases ◽  
Case Reports ◽  
Interleukin 1 ◽  
Colchicine Treatment ◽  
Cns Involvement ◽  
Mediterranean Fever ◽  
Recurrent Aseptic Meningitis

Abstract 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.

scholarly journals Familial Mediterranean fever (periodic disease): history or a real problem

2018 ◽  
Vol 12 (3) ◽  
pp. 61-69 ◽  
Author(s):  
E. S. Fedorov ◽  
S. O. Salugina
Keyword(s):  
Familial Mediterranean Fever ◽  
Inflammatory Diseases ◽  
Systemic Vasculitis ◽  
Interleukin 1 ◽  
Mefv Gene ◽  
Real Problem ◽  
Randomized Controlled Studies ◽  
Bowel Diseases ◽  
Mediterranean Fever ◽  
Definition Of

The review is devoted to the most common monogenic autoinflammatory disease – familial Mediterranean fever (FML) caused by MEFV gene mutation that occurs mainly in the representatives of certain ethnic groups and manifests itself as recurrent 6–72-hour attacks of pyretic fever accompanied by the phenomena of aseptic peritonitis, pleurisy, arthritis, and inflammatory rash. The disease can lead to a life-threatening complication, such as amyloidosis. FML is noted to be comorbid with a number of other inflammatory diseases: systemic vasculitis, chronic joint inflammatory diseases, and inflammatory bowel diseases. Emphasis is laid on the therapy aspects set out in the 2016 EULAR guidelines. The mainstay of treatment for FML is colchicine that prevents recurrences of the disease, minimizes the risk of amyloidosis, and should be prescribed immediately, once diagnosed. The paper deals with the definition of colchicine resistance that is observed in 5–10% of patients. Biological agents, among which interleukin-1 are most preferred, are now used to treat this category of patients. The high efficacy of these agents in patients with FML has been confirmed in randomized controlled studies.

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

2020 ◽  
Vol 59 (1) ◽  
pp. 125-128
Author(s):  
Takahiro Hosoi ◽  
Kazuhiro Ishii ◽  
Naoki Tozaka ◽  
Dai Kishida ◽  
Yoshiki Sekijima ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Familial Mediterranean Fever ◽  
Aseptic Meningitis ◽  
Mediterranean Fever ◽  
Recurrent Aseptic Meningitis

scholarly journals Improvement of liver involvement in familial Mediterranean fever after introduction of canakinumab: a case report

2020 ◽  
Vol 12 (1) ◽  
pp. e20200059
Author(s):  
Maria Grazia Massaro ◽  
Maurizio Pompili ◽  
Ludovico Luca Sicignano ◽  
Fabrizio Pizzolante ◽  
Elena Verrecchia ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Therapeutic Potential ◽  
Combined Therapy ◽  
Interleukin 1 ◽  
Jewish Woman ◽  
Colchicine Treatment ◽  
Blocking Agent ◽  
Liver Involvement ◽  
Hepatic Involvement ◽  
Mediterranean Fever

A 44-year-old Jewish woman with familial Mediterranean fever (FMF) developed non-alcoholic steato-hepatitis during colchicine treatment (2,5 mg per day), confirmed by both elastographic study and liver biopsy. A combined therapy with the interleukin-1 (IL-1) blocking agent canakinumab (150 mg every 4 weeks) and colchicine (at a reduced dose of 1.5 mg per day) was started. Three months later transaminases became normal, and six months later there was a marked improvement of liver fibrosis on the elastographic study. Hepatic involvement in FMF occurs ranging from nonspecific increase in liver enzymes to cryptogenic cirrhosis. Liver is mostly involved in patients bearing the homozygous M694V MEFV mutation, as in our case. IL-1 blockade has the power to halt or mitigate liver involvement in FMF patients, though further experience is required to assess its therapeutic potential in the most severe patients with hepatic disease who are partially responsive to long-term colchicine.

scholarly journals A Case of Familial Mediterranean Fever with Extensive Lymphadenopathy and Complex Heterozygous Genotype Presenting in the Fourth Decade

2018 ◽  
Vol 2018 ◽  
pp. 1-5 ◽  
Author(s):  
Jawad Al-Khafaji ◽  
Fran Ganz-Lord ◽  
Venkata Rajesh Konjeti ◽  
Aaron D. Viny
Keyword(s):  
Familial Mediterranean Fever ◽  
Late Onset ◽  
Case Reports ◽  
Interleukin 1 ◽  
Negative Regulator ◽  
Recurrent Fever ◽  
Compound Heterozygous ◽  
Inherited Disease ◽  
Heterozygous Genotype ◽  
Mediterranean Fever

Familial Mediterranean fever (FMF) is an inherited disease caused by loss of function mutations in the MEFV gene encoding pyrin, a negative regulator of interleukin-1. The disease is characterized by recurrent fever and self-limited attacks of joint, chest, and abdominal pain but lymphadenopathy is an infrequent manifestation. While mesenteric lymphadenopathy has been described in several cases in the literature; hilar, paratracheal, axillary, pelvic, and retroperitoneal lymphadenopathy are extremely rare and have been reported separately in very few individuals. In this report, we present a patient with late-onset FMF with extensive lymphadenopathy in all of the aforementioned anatomic regions. Genetic analysis identified three heterozygous pyrin mutations in a patient with no affected family members. Genetic investigation of the patient’s mother identified a novel carrier haplotype E148Q/P369S. The proband also inherited the previously described and rare A744S mutation previously not thought to be a disease-defining lesion. This unique compound heterozygous genotype resulted in a novel genotype-phenotype association producing an atypical clinical presentation of FMF that fits within the pattern of several case reports of late-onset disease with respect to clinical course and therapeutic response.

scholarly journals AB0730 ASSOCIATION OF SPONDYLOARTHRITIS AND FAMILIAL MEDITERRANEAN FEVER AND IMPACT ON DISEASE PHENOTYPE: A SYSTEMATIC REVIEW OF THE LITERATURE

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1659.3-1659
Author(s):  
N. Ziade ◽  
A. Nassar
Keyword(s):  
Disease Management ◽  
Familial Mediterranean Fever ◽  
Literature Search ◽  
Association Studies ◽  
Case Reports ◽  
Genome Wide Association Studies ◽  
Systematic Literature Search ◽  
Disease Phenotype ◽  
Mefv Mutation ◽  
Mediterranean Fever

Background:Spondyloarthritis (SpA) and Familial Meditaerranean fever (FMF) may co-exist in certain populations, and have some overlapping manifestations (oligo-arthritis, hip involvement). Their association may impact disease phenotype and may affect disease management.Objectives:To evaluate the association of SpA and FMF and its impact on disease phenotype and management.Methods:A systematic literature search was conducted with the keywords spondyloarthritis and familial mediterranean fever from Janurary 1990 to January 2020 in PubMed and using manual cross-reference methods.Results:The search retrieved 74 articles, out of which 37 articles were relevant to the study question; most of the articles were case reports, with some large cohort studies of FMF and SpA (Flowchart in Figure 1).In large FMF cohorts, the prevalence of SpA was higher compared to the general population (7.5-13%, OR around 10). M694V was a risk factor for SpA. These FMF-SpA patients were older at diagnosis, had lower fever attacks, and higher disease duration, inflammatory back pain, chronic arthritis, enthesopathy, persistent inflammation and higher resistance to Colchicine. In case series, they were responsive to anti-TNF therapy.In large SpA cohorts, MEFV mutation, particularly M694V, was found in 15-35% (even without associated FMF). In most cohorts, MEFV mutation carriers didn’t have any distinct disease phenotype, except for some reports of higher ESR, more hip involvement, higher BASFI and higher BASDAI. Genome-wide association studies and case reports suggest an implication for IL-1 and thus a role for Anakinra therapy in these patients.Conclusion:In FMF or SpA patients with resistance to conventional therapy, the evaluation of disease association should be performed as it may have significant impact on disease management.References:[1]Li et al, Plos Genetics 2019. Watad et al, Frontiers Immunol 2019. Atas et al, Rheumatol Int 2019. Cherqaoui et al, JBS 2017. Zhong et al. Plos One 2017. Ornek et al, Arch Rheumatol 2016. Cinar et al, Rheumatol Int 2008. Durmur et al, JBS 2007.Figure 1.Flowchart of the systematic literature search (Spondyloarthritis, Familial Mediterranean Fever; January 1990-2020).Disclosure of Interests:Nelly Ziade Speakers bureau: Abbvie, Janssen, Lilly, Novartis, Pfizer, Roche, Sanofi, Aref Nassar: None declared

Interleukin-1 Targeting Drugs in Familial Mediterranean Fever: A Case Series and a Review of the Literature

2011 ◽  
Vol 41 (2) ◽  
pp. 265-271 ◽  
Author(s):  
Ulrich Meinzer ◽  
Pierre Quartier ◽  
Jean-François Alexandra ◽  
Véronique Hentgen ◽  
Frédérique Retornaz ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Interleukin 1 ◽  
Case Series ◽  
Review Of The Literature ◽  
Mediterranean Fever
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