Dramatic beneficial effect of interleukin-1 inhibitor treatment in patients with familial Mediterranean fever complicated with amyloidosis and renal failure

Gastrointestinal (GI) manifestations, such as abdominal pain, nausea, vomiting, and diarrhea, are common autoinflammatory disease (AID) symptoms. The abdominal symptomatology reflecting serositis is one of the most important classification and diagnostic criteria for the classic monogenic AID (MAID) – familial Mediterranean fever (FMF). Failure to timely diagnose FMF frequently leads to unjustified surgical interventions. Other periodic fevers may also present as abdominal symptoms; however, the latter are outside their diagnostic features. These diseases include, first of all, tumor necrosis factor receptor-associated periodic syndrome (TRAPS). Interleukin 1 (IL1) inhibitors serve as the major targeted drugs for the treatment of TRAPS. Russia has registered the IL1 inhibitor canakinumab that prevents the development of organ damages, including those in the GI tract. The paper describes a clinical case of the classic manifestations of TRAPS (fever, rash, periorbital edema, arthritis, and elevated levels of acutephase inflammatory markers) concurrent with severe abdominalgia during attacks and with the development of severe peritoneal adhesions, which led to bowel perforation and emergency surgical intervention. The prolonged persistence of inflammatory attacks before the initiation of therapy, as well as violation of the IL1 inhibitor administration regimen facilitated the development of an urgent exacerbation. Thus, TRAPS should be included in the differential diagnostic circle for patients with severe gastrointestinal manifestations characterized by an attack-like course. These patients need timely prescription of targeted therapy, strict adherence to the dosing and intervals between drug administrations, and careful monitoring to prevent serious complications with the visceral organs, including the gastrointestinal tract, and their immediate correction.

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

10.21203/rs.3.rs-71444/v1 ◽

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.

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

Modern Rheumatology Journal ◽

10.14412/1996-7012-2018-3-61-69 ◽

2018 ◽

Vol 12 (3) ◽

pp. 61-69 ◽

Cited By ~ 1

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.

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Mutation screening of familial Mediterranean fever in the Azeri Turkish population: Genotype-phenotype correlation and the clinical profile variability

Genetika ◽

10.2298/gensr1402611g ◽

2014 ◽

Vol 46 (2) ◽

pp. 611-620

Author(s):

Jalal Gharesouran ◽

Maryam Rezazadeh ◽

Morteza Ghojazadeh ◽

Mohaddes Ardabili

Keyword(s):

Renal Failure ◽

Familial Mediterranean Fever ◽

Clinical Symptoms ◽

Phenotypic Variability ◽

Mutation Screening ◽

Turkish Population ◽

Coding Region ◽

Frequent Mutations ◽

Mediterranean Fever ◽

Frequency Changes

Familial Mediterranean fever is known as a most frequent hereditary autoin-Xammatory among the autoinflammatory syndromes characterized by fever, arthritis and serosal inflammation. Clinically, the foremost severe symptom of the disease is amyloidosis, which may cause to renal failure. MEFV renal failure consists of ten exons and conservative mutations clustered in exon ten (M694V, V726A, M680I, M694I) and exon two (E148Q) are considered more common mutations within this coding region and that they are detected with a distinct frequency changes in line with ethnicity. The aim of this study was to research the spectrum of mutations in Azeri Turkish population. We evaluated the molecular test results of 82 patients and their parents from eighty families identified as having FMF clinical symptoms referred to Molecular Genetics Laboratory of the Department of Medical Genetics. Patients were referred by their physicians for MEFV mutation detection. The most frequent mutations were M694V respectively followed by M680I (G/C), V726A, M694I and E148Q mutations. A phenotypic variability was also ascertained between patients with different mutations and it must be considered within the daily management of FMF patients.

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