scholarly journals Protracted Febrile Myalgia Associated with Fever of Unknown Origin

2020 ◽  
Author(s):  
Özlem Üzüm ◽  
Hayrullah Manyas ◽  
Kerem Yıldız ◽  
Abbasqulu Baghirov ◽  
Belde Kasap Demir
Keyword(s):  
Familial Mediterranean Fever ◽  
Fever Of Unknown Origin ◽  
Periodic Fever ◽  
Connective Tissue Diseases ◽  
Clinical Manifestations ◽  
Unknown Origin ◽  
Acute Phase Reactant ◽  
Phase Reactant ◽  
Mediterranean Fever ◽  
Biochemical Examination

Fever of unknown origin (FUO) is considered in children as fever >38.3°C (101°F) at least once a day for 8 days and more without any apparent diagnosis. There are lots of underlying factors for fever of unknown origin and the three most common etiologic categories in children are infectious diseases, connective tissue diseases, and neoplasms. In this article, we have presented a 15-year-old girl admitted with normal physical, and biochemical examination findings except fever and an elevated acute phase reactant. She was diagnosed with protracted febrile myalgia syndrome (PFMS) when severe myalgia was added to her complaints although she denied previously experienced periodic fever, abdominal pain, arthralgia or chest pain. We presented our case to emphasize that protracted febrile myalgia syndrome, one of the atypical clinical manifestations of Familial Mediterranean fever, may be the presenting symptom of Familial Mediterranean fever as well as an underlying cause of fever of unknown origin.

Genetic Screening of Familial Mediterranean Fever in Japan.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 3846-3846
Author(s):  
Yasuko Miyahara ◽  
Kouhei Yamashita ◽  
Takashi Miyoshi ◽  
Akifumi Takaori ◽  
Masataka Sasada ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Genetic Screening ◽  
Large Scale ◽  
Periodic Fever ◽  
Mefv Gene ◽  
Unknown Origin ◽  
Polymorphonuclear Cells ◽  
Exon 2 ◽  
Mediterranean Countries ◽  
Mediterranean Fever

Abstract There have been few reports of the patients with Familial Mediterranean Fever (FMF) in Japan, probably because FMF patients are preoccupied to be rare in Japan. We experienced 10 cases likely to be clinically diagnosed as FMF with periodic fever of unknown origin. FMF is an autosomal recessive disease resulting from the genetic mutations in the FMF gene (MEFV), which codes for a protein named Pyrin. Pyrin is expressed in mainly polymorphonuclear cells and monocytes and it is proposed that it regulates inflammation. The MEFV gene is located on chromosome 16p13.3 and comprises 10 exons. Several mutations in the MEFV gene have been identified, however the mutations are mostly located in exon 2 and 10. Therefore, we performed genetic screening of exon 2 and 10 in the 10 patient samples. The median age of the patients was 34 (17–49) years old. They are four males and six females. DNA was isolated from polymorphonuclear cells of the patients and PCR was performed with selective primers of exon 2 and 10 of MEFV gene, respectively. Thereafter, direct sequence of exon 2 and 10 of the PCR products was performed. As a result, the mutations of E148Q in exon 2 and M694I in exon 10, which are commonly observed in previous reports, were identified in seven and six out of 10 patients, respectively. All patients had either E148Q or M694I mutation. Three patients have both E148Q and M694I mutations. One 50-year-old female patient, who had a homozygous M694I mutation, suffered from severe renal AA amyloidosis. The mutation at M694 has been mostly reported as M694V, particularly in Mediterranean countries, however interestingly, all of the mutations of M694 were M694I, not M694V in our 10 Japanese patients. It is reported that healthy carrier frequency of the E148Q mutation was about 16% in Japan, so it is suggested that E148Q mutation may be profoundly involved in cause of disease, because E148Q mutation is observed among 70% of our patients. We herein report the unique genetic features of FMF patients in Japan. A further large scale of investigation would be necessary for confirming the significance of E148Q and M694I mutations in FMF patients in Japan.

scholarly journals POS1302 THE MUSCULOSKELETAL SYSTEM MANIFESTATIONS IN CHILDREN WITH FAMILIAL MEDITERRANEAN FEVER

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 933.1-933
Author(s):  
F. Demir ◽  
S. Canbek ◽  
B. Sözeri
Keyword(s):  
Familial Mediterranean Fever ◽  
Periodic Fever ◽  
Mefv Gene ◽  
Clinical Manifestations ◽  
Musculoskeletal Symptoms ◽  
Compound Heterozygous ◽  
M694v Mutation ◽  
Musculoskeletal Manifestations ◽  
Mediterranean Fever ◽  
Calf Pain

Background:Familial Mediterranean fever (FMF) is a monogenic inherited periodic fever syndrome presenting with episodes of self-limiting fever and inflammation of serosal membranes. The attacks emerge with arthritis were defined as one of the major diagnostic criteria besides involvement of serosal membranes. Non-specific musculoskeletal findings such as myalgia, arthralgia, transient synovitis, and more rare manifestations like protracted febrile myalgia can also be seen in FMF patients attacksObjectives:We aim to reveal the frequency and genotype association of musculoskeletal manifestations in children with FMF.Methods:The patients diagnosed with FMF between January 1, 2017 and June 1, 2019, and followed for at least 6 months in our pediatric rheumatology clinic were included in the study. Musculoskeletal manifestations of patients were enrolled. The patients were grouped according to the “Mediterranean Fever” (MEFV) gene variants. Musculoskeletal manifestations of the patients were compared between the groupsResults:The study group included 634 children with FMF (336 female and 298 male, F/M: 1.13/1). The clinical manifestations of patients in attack period were as follows: 99% of the patients had fever, 87.3% had abdominal pain, 20.7% had chest pain, 11.3% had vomiting, 10.7% had erysipelas like erythema, and 9.3% had headache. The musculoskeletal symptoms were accompanied by 58.6% (n: 372) of the patients during the attack period. The most common musculoskeletal manifestation was found as arthralgia (32.6%, n: 206). Also, the other musculosceletal manifestations were found as follows during attacks; arthritis in 23.7% (n: 150), myalgia in 20.5% (n: 130), exertional calf pain in 6.5% (n: 41), and protracted febrile myalgia in 1% (n: 7) of the patients. It was observed that the musculoskeletal manifestations were significantly higher in patients with homozygous M694V variant in exon-10 (p=0.017). Also, it was found that the musculoskeletal manifestations are more common in the attack periods of patients carrying the M694V variant in at least one allele (p = 0.019).Conclusion:It was determined that the musculoskeletal manifestations were seen as an attack symptom in more than half of FMF patients. Also, homozygous and compound heterozygous MEFV mutations including M694V variant found as a risk factor for emerge of musculoskeletal manifestations. In children with unexplained and recurrent musculoskeletal symptoms, especially in ethnicities with the high frequency of FMF, analysis of MEFV gene can help reveal the underlying cause.References:[1]Brik R, Shinawi M, Kasinetz L, Gershoni-Baruch R. The musculoskeletal manifestations of familial Mediterranean fever in children genetically diagnosed with the disease. Arthritis Rheum 2001;44:1416-9.[2]Jarjour RA, Dodaki R. Arthritis patterns in familial Mediterranean fever patients and association with M694V mutation. Mol Biol Rep 2011;38:2033-6.Disclosure of Interests:None declared

scholarly journals Familial Mediterranean Fever with Neonatal Onset: Case Report

2020 ◽  
Vol 2020 ◽  
pp. 1-3
Author(s):  
Kübra Arslan ◽  
Serdar Ümit Sarici ◽  
Gonca Kolukisa ◽  
Demet Altun
Keyword(s):  
Familial Mediterranean Fever ◽  
Joint Pain ◽  
Fever Of Unknown Origin ◽  
Clinical Course ◽  
Unknown Origin ◽  
Recurrent Fever ◽  
Age Group ◽  
Neonatal Onset ◽  
Mediterranean Fever ◽  
Occult Bacteremia

Familial Mediterranean fever (FMF) is an autosomal recessively inherited disorder characterized by recurrent fever and attacks of abdominal pain, chest pain, and joint pain. Attacks of recurrent fever and serositis are encountered clinically. Attacks may present either with only one symptom or many simultaneous symptoms. Although most of the patients are diagnosed clinically above the age of 2, those cases who are diagnosed before 2 years of age and with clinical course of isolated fever are believed to have a more serious course and tend to develop amyloidosis. In this article, a case who was admitted first on the 22nd day of life and later diagnosed to have FMF with recurrent attacks of isolated fever and no other focus is presented. We emphasize that FMF may present as early as in the first month of life, and it should be considered in cases presenting with fever of unknown origin and misdiagnosed to have late neonatal sepsis or occult bacteremia at this age group.

scholarly journals Serum Amyloid A Level in Egyptian Children with Familial Mediterranean Fever

2016 ◽  
Vol 2016 ◽  
pp. 1-6 ◽  
Author(s):  
Hala M. Lofty ◽  
Huda Marzouk ◽  
Yomna Farag ◽  
Mohammad Nabih ◽  
Iman A. S. Khalifa ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Serum Amyloid A ◽  
Acute Phase Reactant ◽  
Serum Amyloid ◽  
Amyloid A ◽  
Inflammatory Conditions ◽  
Phase Reactant ◽  
Egyptian Children ◽  
Mediterranean Fever ◽  
Colchicine Therapy

Background and Objectives. SAA is an acute-phase reactant detected during an FMF attack or other inflammatory conditions. High SAA levels may increase the risk of amyloidosis. The aim of the study is to measure the serum amyloid A (SAA) level in a group of Egyptian children with familial Mediterranean fever (FMF) and study its various correlates, if any.Methods. The study enrolled seventy-one children with FMF.Results. SAA level was high in 78.9% of the studied patients with a mean of81.62±31.6 mg/L, and CRP was positive in 31% of patients. There was no significant releation between SAA level and any demographic or clinical manifestation. High SAA was more frequent in V726A allele (16.9%) followed by M694V allele (12.3%). Elevated SAA levels were more frequent in patients on low colchicine doses. Forty-five percent (45%) of patients have low adherence to colchicine therapy.Interpretation and Conclusion. High SAA levels were detected two weeks after last FMF attack in a large percentage of Egyptian FMF children. This indicates that subclinical inflammation continues during attack-free periods, and SAA could be used as a marker of it.

scholarly journals Familial Mediterranean fever presenting as fever of unknown origin in Korea

2016 ◽  
Vol 59 (Suppl 1) ◽  
pp. S53
Author(s):  
Jun Hee Lee ◽  
Jong Hyun Kim ◽  
Jung Ok Shim ◽  
Kwang Chul Lee ◽  
Joo Won Lee ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Fever Of Unknown Origin ◽  
Unknown Origin ◽  
Mediterranean Fever

AB0980 CASE-REVIEW ON FAMILIAL MEDITERRANEAN FEVER IN A SPECIALIZED CENTRE

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1784.1-1784
Author(s):  
R. Dos Santos Sobrín ◽  
M. Martí Masanet ◽  
B. Lopez-Montesinos ◽  
L. Lacruz Pérez ◽  
I. Calvo
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Familial Mediterranean Fever ◽  
Periodic Fever ◽  
Severe Disease ◽  
Strong Association ◽  
Mefv Gene ◽  
Systemic Juvenile Idiopathic Arthritis ◽  
Case Series ◽  
Case Review ◽  
Mediterranean Fever

Background:Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disorder caused mostly by mutations in MEFV gene. Its inheritance is autosomal recessive and is the most frequent periodic fever syndrome. First-line treatment is based in colchicine use, so biologics (anti-IL-1) are reserved for refractory cases1, 2.Objectives:To account for clinic and treatment features of patients with FMF in a specialized center as opposed to non-referent centers.Methods:This study was developed in the Pediatric Rheumatology Service in Hospital Universitario y Politécnico La Fe de Valencia. Demographic, clinic and treatment data were collected from patients diagnosed of FMF since January 2004 to September 2019.Results:106 patients met last FMF criteria3. 55% had a pathogenic mutation in genetic analysis. 52% were female. Before 10 years old, 71% of patients had the diagnosis (51% before 4 years old). Arthralgia/myalgia (73%), periodic fever (62%) and abdominal pain (54%) were the most common symptoms. Systemic Juvenile Idiopathic Arthritis (JIA, 6), other forms of JIA (9) and vasculitis (10) were the most prevalent comorbidities. When talking about treatment, 76,4% received Colchicine (60,5% with good response), 22,6% needed a classical disease modifying antirheumatic drug (mostly Methotrexate) and 22 patients got biologic treatment (73% anti-IL-1).Conclusion:When analyzing this case-review, JIA has a strong association with our patients, so it could explain severe disease activity and more articular involvement. This could be an illustration to the higher use of Methotrexate. Also, the most relevant symptom was arthralgia while fever is the most frequent in literature. Likewise, age of diagnosis has been earlier than other case-series (this would be more frequent in other autoinflammatory syndromes, as literature relates)1, 2, 4.References:[1]Ozdogan H, Ugurlu S. Familial Mediterranean Fever. Presse Med. (2019).[2]Ozen S, Demirkaya E, Erer B, et al. EULAR recommendations for the management of familial Mediterranean fever. Ann Rheum Dis 2016;75:644-651.[3]Sag E, Demirel D, Demir S, et al. Performance of the new “Eurofever/PRINTO classification criteria” in FMF patients. Semin Arthritis Rheum. 2019;19:30369-5.[4]Rozenbaum M, Rosner I. Severe outcome of juvenile idiopathic arthritis (JIA) associated with familial Mediterranean fever (FMF). Clin Exp Rheumatol. 2004;22:S75-8.Disclosure of Interests:Raquel Dos Santos Sobrín: None declared, Miguel Martí Masanet: None declared, B Lopez-Montesinos: None declared, Lucía Lacruz Pérez: None declared, Inmaculada Calvo Grant/research support from: Bristol-Myers Squibb, Clementia, GlaxoSmithKline, Hoffman-La Roche, Merck Sharpe & Dohme, Novartis, Pfizer, Sanofi, Speakers bureau: AbbVie, GlaxoSmithKline, Hoffman-La Roche, Novartis

Autoinflammatory Syndromes

2012 ◽  
Author(s):  
Arturo Diaz
Keyword(s):  
Differential Diagnosis ◽  
Muscular Atrophy ◽  
Periodic Fever ◽  
Interleukin 1 ◽  
Macrocytic Anemia ◽  
Unknown Origin ◽  
Autoinflammatory Syndromes ◽  
Papa Syndrome ◽  
Hyper Igd Syndrome ◽  
Mediterranean Fever

The autoinflammatory syndromes are a group of diseases characterized by apparently spontaneous episodes of fever and inflammatory manifestations in several organs. Some of these conditions, such as familial Mediterranean fever (FMF), have been known for over a century, but others have only recently been defined. The discovery of the genetic defects underlying the pathophysiology of these diseases has been critical for their understanding and eventual grouping in a new category of diseases. Despite their rarity, the monogenic autoinflammatory syndromes are relevant because identification of the causative genetic variants has greatly expanded our understanding of the inflammatory process and the innate immune system and defined new diseases and their treatment. In addition, the autoinflammatory syndromes have been incorporated in the differential diagnosis of fever of unknown origin. In this chapter, the following selected syndromes are reviewed: FMF; cryopyrin-associated periodic syndromes; tumor necrosis factor–associated periodic fever syndrome; hyper-IgD syndrome; pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome; Blau syndrome; deficiency of the interleukin-1 receptor antagonist; Majeed syndrome; cherubism; joint contractures, muscular atrophy, macrocytic anemia, and panniculitis-associated lipodystrophy (JMP) syndrome; CANDLE syndrome; systemic-onset juvenile idiopathic arthritis; and adult-onset Still disease. Each syndrome is broken down by epidemiology, etiology, pathogenesis, diagnosis, differential diagnosis, management, complications, and prognosis. This review contains 4 highly rendered figures, 5 tables, and 96 references.

scholarly journals Periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome, Hodgkin's lymphoma,and the familial Mediterranean fever gene

2014 ◽  
Vol 1 (1) ◽  
pp. 37
Author(s):  
Ala Atamna ◽  
Corina Hershkovici ◽  
Avishay Elis
Keyword(s):  
Familial Mediterranean Fever ◽  
Hodgkin’S Lymphoma ◽  
Periodic Fever ◽  
Gene Mutations ◽  
Aphthous Stomatitis ◽  
High Rate ◽  
Hodgkin's Lymphoma ◽  
Inflammatory Disorder ◽  
Mediterranean Fever ◽  
Pfapa Syndrome

The syndrome of periodic fever, aphthous stomatitis, pharyngitis, and adenopathy (PFAPA) is a benign, self-limited, auto-inflammatory disorder. The attacks usually start at age 2 to 5 years and cease before the age of 10 years. Affected children grow and develop normally and experience no long-term sequelae. The course of PFAPA syndrome is attenuated by the carrier state of the familial Mediterranean fever (FMF) gene, MEFV. A high rate of MEFV mutations has also been reported in various hemato-lymphoid neoplasms. We describe a 19-year-old woman with PFAPA syndrome in remission who was diagnosed with Hodgkin's lymphoma. Although mutations in the FMF gene were not found in this case, the association of PFAPA syndrome with FMF gene mutations and hematological malignancies is discussed.

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