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1.
Pediatr Rheumatol Online J ; 17(1): 22, 2019 May 14.
Artigo em Inglês | MEDLINE | ID: mdl-31088470

RESUMO

Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease in Canada and is characterized by a clinical syndrome of episodic inflammatory symptoms. Traditionally, the disease is defined by autosomal recessive inheritance of MEFV gene variants, yet FMF also not uncommonly manifests in individuals with only one identified disease-associated allele. Increasing availability and affordability of gene sequencing has led to the identification of multiple MEFV variants; however, they are often of unknown clinical significance. Variants in other genes affecting overlapping or distinct inflammatory signaling pathways - together with gene-environment interactions including epigenetic modulation - likely underlie the significant genetic and phenotypic heterogeneity seen among patients with this disease. We review recent evidence of the expanding spectrum of FMF genotype and phenotype and suggest that current drug funding schemes restricting biologic agents to patients with homozygous mutations have not kept pace with our biological understanding of the disease.


Assuntos
Febre Familiar do Mediterrâneo/genética , Terapia Biológica/métodos , Criança , Febre Familiar do Mediterrâneo/diagnóstico , Febre Familiar do Mediterrâneo/terapia , Genótipo , Humanos , Mutação/genética , Pirina/genética , Pirina/metabolismo
2.
Z Rheumatol ; 78(1): 91-101, 2019 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-30684030

RESUMO

BACKGROUND: Familial Mediterranean fever (FMF) in Germany is a rare, genetically linked disease of childhood and adolescence, which is characterized by recurrent febrile episodes and clinical signs of peritonitis, pleuritis and arthritis. Treatment with colchicine is effective and well-tolerated in the majority of patients; however, some patients do not sufficiently respond to this treatment or are intolerant to colchicine. For these patients first-line treatment with biologics which block interleukin-1 can be used. OBJECTIVE: The aim was to formulate evidence-based treatment recommendations for patients with an insufficient response and intolerance to colchicine treatment. METHODS: Based on a literature search and the European League Against Rheumatism (EULAR) recommendations on FMF from 2016 the appointed members of the Society for Pediatric and Adolescent Rheumatology (GKJR) and the German Society for Rheumatology (DGRh) convened to work out and form a consensus in a joint statement on evidence-based treatment recommendations on FMF. RESULTS: After intensive discussions all decisions were in concordance. A total of 5 superordinate principles and 10 recommendations were agreed upon. DISCUSSION: The joint activities of the GKJR and the DGRh were successfully concluded in a timely manner. The recommendations form a good basis for optimal treatment of all age groups of patients with FMF.


Assuntos
Febre Familiar do Mediterrâneo , Adolescente , Criança , Colchicina , Febre Familiar do Mediterrâneo/diagnóstico , Febre Familiar do Mediterrâneo/terapia , Alemanha , Humanos , Interleucina-1 , Reumatologia
3.
Int J Rheum Dis ; 21(7): 1452-1457, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29314663

RESUMO

INTRODUCTION: Familial Mediterranean fever (FMF) is characterized by recurrent attacks of polyserositis. Even though clinical assessment is accepted to be the most important factor in the diagnosis of FMF, some diagnostic procedures may help the physician. In this study, we aimed to compare the number of diagnostic procedures performed and number of physician referrals in early diagnosed and late diagnosed cases. Furthermore, we assessed which diagnostic approaches would affect the decision-making of physicians in the early diagnosed patients. MATERIALS AND METHODS: We enrolled into the study 143 FMF patients who met the Tel-Hashomer Criteria. Demographic variables, MEFV mutations (when available), diagnostic procedures (if performed) and specialist referrals were evaluated. Early diagnosis was defined as establishment of definite diagnosis within a 5-year period after the appearance of the first symptom. RESULTS: Early diagnosed were referred to physicians less often, and except for genetic testing, had fewer diagnostic procedures. In addition to clinical features, MEFV testing was found to be the only method that might influence the diagnosis by a physician. CONCLUSIONS: MEFV gene assessment, unlike other diagnostic procedures, might support physicians in the early diagnosis of FMF. Especially in atypical cases, MEFV gene assessment might be considered for diagnosis of FMF.


Assuntos
Tomada de Decisão Clínica , Análise Mutacional de DNA , Febre Familiar do Mediterrâneo/diagnóstico , Febre Familiar do Mediterrâneo/genética , Mutação , Pirina/genética , Adulto , Diagnóstico Precoce , Febre Familiar do Mediterrâneo/terapia , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Valor Preditivo dos Testes , Prognóstico , Fatores de Tempo , Adulto Jovem
7.
J Acupunct Meridian Stud ; 9(5): 264-266, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27776765

RESUMO

In this study, we evaluated the effectiveness of acupuncture therapy based on Verbal Pain Scale (VPS) scores in familial Mediterranean fever (FMF) patients admitted to the emergency department with attacks of abdominal pain. This observational study was conducted in Erzurum Regional Training and Research Hospital between August 2014 and December 2014. Twenty patients admitted to the emergency department with FMF attacks were included in the study. Acupuncture therapy was applied to three points including LI4 (Hegu), ST25 (Tianshu), and Ren12 (Zhongwan). The VPS test was applied to the patients before and after the treatment. Average VPS scores were found to be 8.45±0.75 before the treatment and 2.10±0.85 after the treatment. The difference of the VPS scores before and after treatment was statistically significant (p=0.001). To our knowledge, this is the first study evaluating the effectiveness of acupuncture therapy in the treatment of FMF attacks. Our results suggest that acupuncture therapy can be used as an effective treatment method in patients with FMF attacks.


Assuntos
Dor Abdominal/terapia , Terapia por Acupuntura , Febre Familiar do Mediterrâneo/terapia , Pontos de Acupuntura , Adulto , Feminino , Humanos , Masculino , Medição da Dor , Resultado do Tratamento , Adulto Jovem
8.
Clin Exp Rheumatol ; 34(6 Suppl 102): 129-135, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27791950

RESUMO

OBJECTIVES: To develop and test a new multidimensional questionnaire for assessment of children with auto-inflammatory disease (AID) such as FMF, PFAPA, HIDS, TRAPS in standard clinical care. METHODS: The juvenile auto-inflammatory disease multidimensional assessment report (JAIMAR) includes 16 parent or patient-centered measures and four dimensions that assess functional status, pain, therapeutic compliance and health-related quality of life (physical, social, school, emotional status) with disease outcome. It is proposed for use as both a proxy-report and a patient self-report, with the suggested age range of 8-18 years for use as a self-report. RESULTS: 250 children with FMF were included in the study. Total of 179 forms were filled up by parents and patients, and 71 forms were filled up by parents having children less than 8 years. Completing and scoring the JAIMAR can be done in 15 minutes. For the JAIMAR's dimensions, the Cronbach's alpha coefficient for internal consistency was between 0.507-0.998. There was a significant and a positive correlation between the test-retest scale scores (ICC=0.607-0.966). Concerning construct validity, all factors loadings were above 0.30. For the criterion validity, the correlation level between each dimension and the related scale ranged from medium (r=0.329, p<0.0001) to large (r=0.894, p<0.0001). The parents' proxy-reported and children's self-reported data were outstandingly concordant (r=0.770-0.989). CONCLUSIONS: The development of the JAIMAR introduces a new and multi-dimensional approach in paediatric rheumatology practice. It is a new tool for children with auto-inflammatory dis-ease and it may help enhance their quality of care.


Assuntos
Febre Familiar do Mediterrâneo/diagnóstico , Febre/diagnóstico , Doenças Hereditárias Autoinflamatórias/diagnóstico , Inquéritos e Questionários , Adolescente , Fatores Etários , Criança , Pré-Escolar , Efeitos Psicossociais da Doença , Febre Familiar do Mediterrâneo/fisiopatologia , Febre Familiar do Mediterrâneo/psicologia , Febre Familiar do Mediterrâneo/terapia , Feminino , Febre/fisiopatologia , Febre/psicologia , Febre/terapia , Nível de Saúde , Doenças Hereditárias Autoinflamatórias/fisiopatologia , Doenças Hereditárias Autoinflamatórias/psicologia , Doenças Hereditárias Autoinflamatórias/terapia , Humanos , Masculino , Valor Preditivo dos Testes , Qualidade de Vida , Reprodutibilidade dos Testes , Índice de Gravidade de Doença
9.
Rev Bras Reumatol Engl Ed ; 56(1): 37-43, 2016.
Artigo em Inglês, Português | MEDLINE | ID: mdl-27267332

RESUMO

OBJECTIVE: To establish guidelines based on scientific evidence for the management of familial Mediterranean fever. DESCRIPTION OF THE EVIDENCE COLLECTION METHOD: The Guideline was prepared from 5 clinical questions that were structured through PICO (Patient, Intervention or indicator, Comparison and Outcome), to search key primary scientific information databases. After defining the potential studies to support the recommendations, these were graduated considering their strength of evidence and grade of recommendation. RESULTS: 10,341 articles were retrieved and evaluated by title and abstract; from these, 46 articles were selected to support the recommendations. RECOMMENDATIONS: 1. The diagnosis of FMF is based on clinical manifestations, characterized by recurrent febrile episodes associated with abdominal pain, chest or arthritis of large joints. 2. FMF is a genetic disease presenting an autosomal recessive trait, caused by mutation in the MEFV gene. 3. Laboratory tests are not specific, demonstrating high serum levels of inflammatory proteins in the acute phase of the disease, but also often showing high levels even between attacks. SAA serum levels may be especially useful in monitoring the effectiveness of treatment. 4. The therapy of choice is colchicine; this drug has proven its effectiveness in preventing acute inflammatory episodes and progression toward amyloidosis in adults. 5. Based on the available information, the use of biological drugs appears to be an alternative for patients with FMF who do not respond or are intolerant to therapy with colchicine.


Assuntos
Amiloidose Familiar/prevenção & controle , Colchicina/uso terapêutico , Febre Familiar do Mediterrâneo/diagnóstico , Febre Familiar do Mediterrâneo/terapia , Guias de Prática Clínica como Assunto , Pirina/genética , Amiloidose Familiar/genética , Medicina Baseada em Evidências , Febre Familiar do Mediterrâneo/genética , Humanos , Fenótipo , Síndrome
10.
Ocul Immunol Inflamm ; 24(4): 422-30, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25760918

RESUMO

Familial Mediterranean fever is an autoinflammatory multisystem disease, which most commonly affects patients from the Mediterranean basin. This review discusses the common polymorphisms in the MEFV gene as well as the role of pyrin in disease pathogenesis. Patients with familial Mediterranean fever typically develop peritonitis, pleuritis, arthritis, and fever. In addition, a number of authors have reported ophthalmic features. These case reports and series are further explored in this review. Colchicine has transformed the prognosis for patients with familial Mediterranean fever. The rationale for the use of colchicine, as well as the evidence for newer biologic agents is also covered.


Assuntos
Febre Familiar do Mediterrâneo , Uveíte , Colchicina/uso terapêutico , Febre Familiar do Mediterrâneo/diagnóstico , Febre Familiar do Mediterrâneo/etiologia , Febre Familiar do Mediterrâneo/genética , Febre Familiar do Mediterrâneo/terapia , Humanos , Mutação , Pirina/genética , Moduladores de Tubulina/uso terapêutico , Uveíte/diagnóstico , Uveíte/etiologia , Uveíte/terapia
11.
Angiology ; 67(5): 456-60, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26238112

RESUMO

The constriction of vessels due to atherosclerotic lesions causes hypoxia/ischemia and oxidative changes resulting in transformation of free albumin to ischemia-modified albumin (IMA) in the circulation and increased carotid intima-media thickness (cIMT). We investigated the reliability of IMA increase in evaluating atherosclerosis in patients with familial Mediterranean fever (FMF) compared with cIMT. Patients with FMF (n = 58) diagnosed by the Tel-Hashomer criteria in attack-free period and 38 healthy people were included in the study. Patient demographics as well as the clinical and laboratory characteristics of the healthy controls and patients with FMF were noted. The IMA levels and cIMT in patients with FMF were 0.30 ± 0.09 absorbance units (ABSUs) and 1.12 ± 0.27 mm, respectively, and in the control group, IMA levels and cIMT were 0.25 ± 0.07 ABSU and 0.74 ± 0.26 mm, respectively. The IMA levels and cIMT were significantly higher in patients with FMF than in controls (P= .020 andP< .0001, respectively). The IMA values showed positive correlation with cIMT in patients with FMF(r= .302,P= .041). Our results reveal that IMA--an oxidative stress marker--may be an indicator of atherosclerosis in patients with FMF. This finding deserves further investigation.


Assuntos
Aterosclerose/complicações , Febre Familiar do Mediterrâneo/complicações , Albumina Sérica/metabolismo , Adulto , Idoso , Aterosclerose/diagnóstico , Aterosclerose/terapia , Biomarcadores/sangue , Proteína C-Reativa/biossíntese , Espessura Intima-Media Carotídea , Febre Familiar do Mediterrâneo/sangue , Febre Familiar do Mediterrâneo/terapia , Feminino , Humanos , Isquemia/complicações , Masculino , Pessoa de Meia-Idade , Albumina Sérica Humana
14.
Clin Exp Rheumatol ; 33(6 Suppl 94): S152-5, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26005881

RESUMO

OBJECTIVES: Presence of common MEFV gene mutations strengthened the diagnosis of FMF in addition to the typical clinical characteristics of FMF. However, there are also rare mutations. P369S, A744S, R761H, K695R, F479L are the main rare mutations in Turkish population. We aimed to evaluate FMF patients with a single allele MEFV mutation and to compare patients with common and rare mutations. METHODS: We retrospectively reviewed the medical records of FMF patients with a single allele mutation who were followed up between 2008 and 2013 in six centres. We compared the patients with rare and common mutations for disease severity score, frequent exacerbations ( >1 attack per month), long attack period (>3 day), symptoms, age at the onset of symptoms, gender, consanguinity, and family history. RESULTS: Two hundred and seventeen patients (M/F=101/116) with the diagnosis of FMF and single mutation were included. Heterozygote mutations were defined as common (M694V, V726A, M68OI) and rare mutations (A744S, P369S, K695R, R761H, F479L). Sixty-seven patients (27 males, 40 females) had one single rare mutation and 150 (74 males, 76 females) had one single common mutation. No difference was found between the rare and common mutations with respect to the disease severity score. There was no significant difference between common and rare heterozygote form of mutations in terms of disease severity. CONCLUSIONS: Patients with typical characteristics of FMF, with some rare mutations (A744S, P369S) should be treated in the same manner as patients with a common mutation.


Assuntos
Proteínas do Citoesqueleto/genética , Febre Familiar do Mediterrâneo/genética , Mutação , Fatores Etários , Criança , Pré-Escolar , Febre Familiar do Mediterrâneo/diagnóstico , Febre Familiar do Mediterrâneo/epidemiologia , Febre Familiar do Mediterrâneo/terapia , Feminino , Frequência do Gene , Predisposição Genética para Doença , Heterozigoto , Humanos , Masculino , Registros Médicos , Fenótipo , Prognóstico , Pirina , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Turquia/epidemiologia
15.
World J Gastroenterol ; 21(13): 4078-81, 2015 Apr 07.
Artigo em Inglês | MEDLINE | ID: mdl-25852296

RESUMO

Coexistence of Crohn's disease (CD) and familial Mediterranean fever (FMF) is a rare condition and knowledge about this clinical situation is limited with a few case reports in the literature. The treatment of both diseases depends on their individual therapies. However, it is very hard to deal with this coexistence when CD is refractory to standard therapies. Ongoing activity of CD triggers the clinical attacks of FMF and the symptoms like abdominal pain interfere with both disease presentations which can cause problems about diagnostic and therapeutic approach. The main therapeutic agent for FMF is colchicine and diarrhea is the most common side effect of this drug. This side effect also causes problems about management of these diseases when both of them are clinically active. Here we report probably the first case in the literature with coexisting CD and FMF who was successfully treated by leukopheresis since he was refractory to conventional therapies for CD.


Assuntos
Doença de Crohn/terapia , Febre Familiar do Mediterrâneo/terapia , Leucaférese , Anti-Inflamatórios/uso terapêutico , Doença de Crohn/complicações , Doença de Crohn/diagnóstico , Doença de Crohn/imunologia , Febre Familiar do Mediterrâneo/complicações , Febre Familiar do Mediterrâneo/diagnóstico , Febre Familiar do Mediterrâneo/imunologia , Fármacos Gastrointestinais/uso terapêutico , Humanos , Masculino , Fatores de Tempo , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Adulto Jovem
16.
Semin Immunopathol ; 37(4): 363-9, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25832989

RESUMO

Familial Mediterranean fever is the most common monogenic periodic fever syndrome over the world especially in the eastern Mediterranean. It presents with recurrent and self-limited inflammatory attacks of fever and polyserositis along with high acute-phase reactants. The disease is associated with mutations in the MEFV gene that encodes pyrin, a component of inflammasome, which leads to exaggerated inflammatory response through uncontrolled production of interleukin 1. With the identification of the gene associated with the disease, we believed that everything was solved and that this was an ordinary monogenic disease with autosomal recessive inheritance. However, through the breathtaking progress in the basic research field as well as the clinical care of these patients, we have understood that the picture for this monogenic disorder was more complicated than we had anticipated. In this review, we have discussed the myths we believed in familial Mediterranean fever and how they have evolved during the past years.


Assuntos
Febre Familiar do Mediterrâneo/etiologia , Proteínas do Citoesqueleto/genética , Gerenciamento Clínico , Febre Familiar do Mediterrâneo/diagnóstico , Febre Familiar do Mediterrâneo/epidemiologia , Febre Familiar do Mediterrâneo/metabolismo , Febre Familiar do Mediterrâneo/terapia , Genes Recessivos , Estudos de Associação Genética , Humanos , Mutação , Fenótipo , Pirina , Índice de Gravidade de Doença
17.
Tohoku J Exp Med ; 235(1): 25-8, 2015 01.
Artigo em Inglês | MEDLINE | ID: mdl-25744068

RESUMO

Mucinous cystadenoma is a rare benign neoplasm and is usually discovered incidentally. Pleuritis and pericarditis, inflammation of the pleura and pericardium, may represent manifestations of autoimmune disorders especially in female subjects. We report a patient with polyserositis that was resolved after removal of the mucinous cystadenoma. To the best of our knowledge, this is a first report describing pleuritis and pericarditis as an initial presentation of mucinous cystadenoma of an appendix. A forty-year-old Caucasian female patient with a history of pleuritis and recurrent pericarditis was admitted to the hospital due to acute abdomen. At that time she was taking indomethacin and colchicine due to pericarditis that was controlled only with the combination of these two drugs. The patient had elevated erythrocyte sedimentation rate (ESR), increased C-reactive protein (CRP) and normocytic anemia. Immunological tests, including antinuclear antibody, anti-neutrophil cytoplasmic antibody, rheumatoid factor, and anti-cyclic citrullinated peptide antibodies, were repeatedly negative. Emergency surgery revealed acute appendicitis with perforation and subsequent diffuse peritonitis. Histopathological examination showed acute appendicitis and mucinous cystadenoma. Following the surgery the patient did not take any drugs. Fourteen months later the patient was symptom free. Pleuritis and pericarditis in female patients are most often associated with autoimmune diseases. We assume that increased ESR and CRP with anemia detected in the patient may reflect the altered immunity that is due to mucinous cystadenoma. We believe that this report has a broader clinical impact, implying that benign tumor could alter immunity, which can lead to unusual presentation such as polyserositis.


Assuntos
Neoplasias do Apêndice/cirurgia , Cistadenoma Mucinoso/cirurgia , Febre Familiar do Mediterrâneo/terapia , Adulto , Apendicite/complicações , Feminino , Humanos , Pericardite/complicações , Pleurisia/complicações
19.
J Assoc Physicians India ; 63(8): 71-4, 2015 08.
Artigo em Inglês | MEDLINE | ID: mdl-27604438

RESUMO

Familial Mediterranean fever (FMF) is a hereditary autosomal recessive ,systemic, auto-inflammatory disorder characterized by sporadic, unpredictable attacks of fever and serosal inflammation. FMF is caused by mutations in MEFV, a gene located on the short arm of chromosome 16 (16p13) which encodes a protein 'Pyrin'. The disorder has been given various names including familial paroxysmal polyserositis, periodic peritonitis, recurrent polyserositis, benign paroxysmal peritonitis, and periodic disease or periodic fever, As the name indicates, FMF occurs within families and is much more common in individuals of Mediterranean descent than in persons of any other ethnicity. It has been described in several ethnic groups including Sephardic Jews, Armenians, Turks, North Africans, Arabs, Greeks, and Italians. However, the disease is not restricted to these groups and sporadic cases have been reported. Diagnosis is usually clinical and it classically presents with unprovoked, recurrent attacks of fever and painful polyserositis mainly affecting the peritoneum (most common), synovium, and pleura that usually (but not always) begin in childhood. We present a atypical case of FMF with type 1 Diabetes Mellitus and FMF who had no fever, Mediterranean ancestory or family history and discuss his clinical features,diagnosis and management.


Assuntos
Colchicina/administração & dosagem , Diabetes Mellitus Tipo 1 , Febre Familiar do Mediterrâneo , Administração dos Cuidados ao Paciente/métodos , Pleurisia/diagnóstico por imagem , Adolescente , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/diagnóstico , Febre Familiar do Mediterrâneo/complicações , Febre Familiar do Mediterrâneo/diagnóstico , Febre Familiar do Mediterrâneo/fisiopatologia , Febre Familiar do Mediterrâneo/terapia , Hospitalização , Humanos , Masculino , Radiografia Torácica/métodos , Moduladores de Tubulina/administração & dosagem
20.
Klin Med (Mosk) ; 92(3): 31-4, 2014.
Artigo em Russo | MEDLINE | ID: mdl-25269192

RESUMO

Paroxismal polyserositis is an orphan disease most often affecting Mediterranean populations. It is caused by a mutation on chromosome 16 leading to pyrine synthesis disorder. The disease has a characteristic clinical picture, the most prominent manifestation being recurrent aseptic inflammation of serous membranes especially in peritoneum, marked temperature reaction, and apparent spontaneous recovery in the attack-free period. Inadequate or excessively intense treatment may cause complication in the form of secondary amyloidosis of internal organs. The most effective therapeutic modality is daily intake of colchicine at a dose of 1-1.5 mg.


Assuntos
Febre Familiar do Mediterrâneo/diagnóstico , Febre Familiar do Mediterrâneo/genética , Febre Familiar do Mediterrâneo/fisiopatologia , Febre Familiar do Mediterrâneo/terapia , Humanos
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