A Febre Familiar do Mediterrâneo (FFM) é uma doença autoinflamatória caracterizada por crises curtas e repetidas de febre e inflamação das serosas, que resultam em dores no abdômen, peito, articulações e músculos.
Introdução
O que você precisa saber de cara
A Febre Familiar do Mediterrâneo (FFM) é uma doença autoinflamatória caracterizada por crises curtas e repetidas de febre e inflamação das serosas, que resultam em dores no abdômen, peito, articulações e músculos.
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 32 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 65 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Involved in the regulation of innate immunity and the inflammatory response in response to IFNG/IFN-gamma (PubMed:10807793, PubMed:11468188, PubMed:16037825, PubMed:16785446, PubMed:17431422, PubMed:17964261, PubMed:18577712, PubMed:19109554, PubMed:19584923, PubMed:26347139, PubMed:27030597, PubMed:28835462). Organizes autophagic machinery by serving as a platform for the assembly of ULK1, Beclin 1/BECN1, ATG16L1, and ATG8 family members and recognizes specific autophagy targets, thus coordinat
Cytoplasm, cytoskeletonCell projection, ruffleCell projection, lamellipodiumNucleusCytoplasmCytoplasmic vesicle, autophagosome
Familial Mediterranean fever, autosomal recessive
A hereditary periodic fever syndrome characterized by recurrent episodic fever, serosal inflammation and pain in the abdomen, chest or joints. It is frequently complicated by reactive amyloidosis, which leads to renal failure and can be prophylactically treated with colchicine.
Medicamentos e terapias
Mecanismo: Tubulin inhibitor
Mecanismo: Interleukin-1 beta inhibitor
Mecanismo: Interleukin-1 receptor antagonist
Variantes genéticas (ClinVar)
222 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1,193 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Febre mediterrânica familiar
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
9 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
233 ensaios clínicos encontrados, 15 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 2.130
Health-related quality of life in children with Familial Mediterranean Fever: a Pediatric Quality of Life Inventory-based evaluation with mutation-specific analysis.
Familial Mediterranean Fever (FMF) is a chronic autoinflammatory disease that may adversely affect health-related quality of life (HRQoL) in childhood. The relative contributions of age, inflammatory burden, and MEFV mutation type to HRQoL impairment remain incompletely clarified. This cross-sectional study included 100 children with FMF and 70 age- and sex-matched healthy controls. HRQoL was assessed using the Pediatric Quality of Life Inventory (PedsQL™) child self-report (ages ≥ 8 years) and parent proxy-report forms. PedsQL scores were compared between groups and across age categories and mutation types. Receiver operating characteristic analysis was performed to determine cut-off values for impaired HRQoL, and multivariate logistic regression was used to identify independent predictors. Total and subscale PedsQL scores were significantly lower in children with FMF compared with controls, particularly in the 8-12 and 13-18 age groups (p < 0.001). Strong correlations were observed between child- and caregiver-reported scores. An overall PedsQL total score < 86 was identified as the optimal cut-off for poor HRQoL. In multivariate analysis, age 8-12 years and elevated C-reactive protein levels (> 3 mg/L) were identified as independent predictors of impaired HRQoL. No significant independent association was observed between MEFV mutation subgroups and HRQoL. HRQoL is significantly reduced in children with FMF, particularly in those aged 8-12 years and in patients with evidence of ongoing inflammatory activity. Inflammatory markers rather than mutation type were associated with impaired HRQoL in this cohort. These findings underscore the importance of routine HRQoL assessment in the clinical follow-up of pediatric FMF patients. • Familial Mediterranean Fever (FMF) is a chronic autoinflammatory disease that can negatively affect health-related quality of life in children. • Previous studies have reported impaired quality of life in FMF; however, the relative impact of age, subclinical inflammation, and mutation status remains unclear. • This study demonstrates that impaired quality of life in pediatric FMF was independently associated with age (8-12 years) and elevated CRP levels rather than MEFV mutation type. • A clinically meaningful Pediatric Quality of Life Inventory (PedsQL) cut-off value is proposed to help identify children at risk for poor quality of life during routine follow-up.
γδ T Cells in Autoinflammatory Diseases.
Autoinflammatory diseases are characterized by inappropriate activation of innate immunity resulting in excessive or persistent inflammation in the absence of infection. γδ T cells possess innate-like properties, including rapid responsiveness to stress-induced self-molecules, phosphoantigens, and inflammasome-derived cytokines, while retaining adaptive effector functions. Neutrophils and macrophages are well-established drivers of autoinflammatory disease, but increasing evidence implicates γδ T cells as key intermediaries by linking innate immune activation to tissue-specific inflammatory pathology. Here, we review evidence that in both monogenic and multifactorial autoinflammatory diseases-including, for example, familial Mediterranean fever, hyper-immunoglobulin (Ig) D syndrome, gout, Behçet's disease, Still's disease, atherosclerosis, and neurodegenerative disorders-γδ T cells display altered frequencies, activation states, cytokine polarization, and tissue recruitment. In inflammasome-driven diseases, skewing of γδ T cells toward interleukin (IL)-17 production has been observed, often accompanied by reduced interferon (IFN)γ secretion, thereby amplifying neutrophilic inflammation and tissue damage. In other diseases, e.g., Behcet's disease, IFNγ and tumor necrosis factor (TNF)α producton predominate. Transcriptomic and tissue-based analyses support the accumulation and functional specialization of γδ T cells at sites of sterile inflammation. Collectively, these findings position γδ T cells as central amplifiers and modulators of inappropriate innate immune activation in the context of autoinflammatory diseases. Improved understanding of γδ T cell subset-specific regulation may inform novel therapeutic strategies targeting autoinflammatory diseases.
Canakinumab treatment in patients with colchicine-resistant familial mediterranean fever: a multicenter observational study.
Anti-interleukin-1 agents have known beneficial effects in the treatment of colchicine-resistant familial Mediterranean fever (cr-FMF); however, studies to date have tended to have small sample sizes and to be based on pooled data. The present study investigates the efficacy of Canakinumab (CAN) in a homogeneous cohort of cr-FMF cases. The study included patients who underwent treatment in three tertiary rheumatology departments, whose electronic medical records were reviewed retrospectively. The inclusion criteria were presence of colchicine resistant disease activity or persistent proteinuria secondary to AA-amyloidosis, and treatment with CAN for at least 6 months. Clinical and laboratory parameters were assessed before and after CAN treatment. The study included 65 patients with a mean age of 38.2 ± 13.8 years, with a mean disease duration of 23.7 ± 11.4 years and a mean colchicine dosage of 1.5 ± 0.6 mg/day. Of the total, 60% of the patients had an M694V homozygous mutation, and 41.5% were resistant to Anakinra. Furthermore, 25 had FMF-related amyloidosis, and 16 were renal transplant recipients. The mean CAN treatment duration was 31.3 ± 23.1 months, and 80% of patients achieved complete remission, while 20% achieved partial remission. Erythrocyte sedimentation rate, C-reactive protein, frequency of attacks, and patient global assessment decreased significantly after CAN (p < 0.001 for each). The mean serum creatinine level (mg/dl) decreased from 2.1 ± 0.8 to 1.4 ± 0.8 (p < 0.001), and median proteinuria (mg/day) decreased from 1475 to 675 (p < 0.001) in patients with AA-amyloidosis. Only one patient with chronic monoarthritis affecting the wrist discontinued CAN due to insufficient arthritis relief. Canakinumab demonstrates excellent efficacy and favorable safety as a treatment for cr-FMF. Our study is the first to indicate the efficacy of CAN in reducing serum creatinine levels.
Comparative analysis of exon 10 and non-exon 10 variants in children with familial mediterranean fever: a retrospective cohort study.
Familial Mediterranean fever (FMF) is the most common inherited autoinflammatory disorder caused by MEFV variants. Exon 10 variants, particularly M694V, are strongly associated with severe disease, but the impact of non-exon 10 variants in children remains less defined. To evaluate genotype-phenotype correlations in pediatric FMF by comparing patients with homozygous exon 10, compound heterozygous exon 10, and exon 10 combined with non-exon 10 variants. This single-center retrospective cohort study included 477 children fulfilling Eurofever/PRINTO criteria between 2018 and 2025. Patients were stratified into four genotype groups. Clinical features, laboratory parameters, and treatments were compared. Disease severity was assessed with the International Severity Scoring System for FMF (ISSF). Homozygous exon 10 variants were associated with an earlier disease onset, shorter diagnostic delay, higher ISSF scores, and a markedly greater requirement for anti-IL-1 therapy compared with other genotypic categories. Patients with compound exon 10 variants and those with combined exon 10-non-exon 10 variants exhibited broadly comparable overall disease severity, although differences were observed in selected clinical manifestations. In contrast, individuals with combined exon 10-non-exon 10 variants demonstrated higher attack frequency, increased inflammatory marker levels, and higher ISSF scores when compared with patients with a single exon 10 allele, supporting a modifier effect of non-exon 10 variants on disease expression. Pediatric FMF patients homozygous for exon 10, especially M694V, show a more severe clinical course with higher disease activity and greater biologic treatment requirements. Exon 10-non-exon 10 variants present with attenuated but clinically relevant phenotypes, resembling compound exon 10 carriers. These findings emphasize the prognostic importance of comprehensive MEFV genotyping in risk stratification and individualized management. • Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disorder, caused by MEFV gene mutations. • Exon 10 mutations, particularly M694V homozygosity, are associated with more severe disease, higher attack frequency, colchicine resistance, and increased risk of complications such as amyloidosis. • This is one of the largest pediatric FMF cohorts systematically stratified into homozygous exon 10, compound heterozygous exon 10, exon 10-non-exon 10 groups, and single exon 10 allele • Exon 10-non-exon 10 variant combinations were associated with a clinically relevant inflammatory phenotype resembling compound exon 10 genotypes, suggesting a potential modifier role of non-exon 10 variants.
Clinical, genetic, and therapeutic differences in pediatric versus adult colchicine-resistant FMF patients.
Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disorder characterized by recurrent febrile episodes and serositis. Colchicine-resistant FMF represents a challenging subset of patients with more severe clinical manifestations, limited treatment options, and increased risk of long-term complications. This study aimed to compare clinical manifestations, genetic mutations, comorbidities, and treatment approaches between pediatric and adult patients diagnosed with colchicine-resistant FMF. This retrospective cross-sectional study included 107 colchicine-resistant FMF patients who received biologic treatment at Ankara Bilkent City Hospital between 2018 and 2023. Demographic, clinical, and genetic data were collected and compared between the groups. Treatment response was evaluated using the International Severity Score for FMF (ISSF). A total of 107 patients with colchicine-resistant FMF were included, comprising 38 pediatric and 69 adult individuals. Female predominance was noted in both groups, more prominently in pediatric patients (68.4% vs. 53.6%). Classical FMF symptoms; abdominal pain (100% vs. 89.9%, p = 0.042), fever (97.4% vs. 82.6%, p = 0.025), chest pain (57.9% vs. 24.6%, p = 0.001), and arthritis (50.0% vs. 26.1%, p = 0.013) were significantly more prevalent in pediatric patients. In contrast, adult patients more frequently presented with inflammatory back pain (40.6% vs. 10.5%, p = 0.001), persistent inflammation (24.6% vs. 7.9%, p = 0.039), and amyloidosis (36.2% vs. 2.6%, p = 0.001). Following biological treatment, median ISSF scores decreased significantly in both groups (5.0 to 0.0, p < 0.001). Although overall MEFV mutation distribution was similar between groups (p = 0.574). This study highlights significant age-related differences in clinical presentation and treatment patterns among crFMF patients. Pediatric cases tend to present with a more typical and severe phenotype, while adults exhibit higher rates of complications such as amyloidosis. These findings underscore the need for age-tailored diagnostic and therapeutic approaches in colchicine-resistant FMF.
Publicações recentes
Modulation of Inflammasome Activity by miR-197-3p in Familial Mediterranean Fever Mouse Macrophages.
Effect of inspiratory muscle training on fatigue, aerobic capacity, pulmonary functions, and quality of life in adolescents with familial Mediterranean fever: a randomized controlled trial.
Severe tortuosity but not altered retinal vessel diameters in children and young adults with Familial Mediterranean Fever: a case-control study.
🥈 ObservacionalAge-related decline in FMF activity: biological signal or modeling artifact?
Case Report: Gitelman syndrome with a suspected MEFV- associated autoinflammatory phenotype: diagnostic challenges in a complex case.
📚 EuropePMC3.265 artigos no totalmostrando 195
Health-related quality of life in children with Familial Mediterranean Fever: a Pediatric Quality of Life Inventory-based evaluation with mutation-specific analysis.
European journal of pediatricsUrological manifestations in familial mediterranean fever excluding renal amyloidosis: a systematic review.
Rheumatology (Oxford, England)Acute hepatic porphyria masquerading as familial Mediterranean fever: results of a cross-sectional porphobilinogen screening.
Orphanet journal of rare diseasesSustainability-based assessment using HPLC method for estimation of colchicine and dexamethasone for multi-disease treatment: application to laboratory-made combination and rat plasma.
BMC chemistryYouTube as a source of information on familial Mediterranean fever.
PeerJThe Risk of Developing Immune-Mediated Rheumatic Disease Among Adult Patients with Temporomandibular Disorders, a Retrospective Single-Center Cohort Study.
Open access rheumatology : research and reviewsγδ T Cells in Autoinflammatory Diseases.
CellsColchicine-Tolerant vs. Resistant Familial Mediterranean Fever: Comparative Analysis of Clinical, Psychosocial Characteristics and Quality of Life.
Journal of clinical medicineHighlights on the Contribution of Gut Microbiota to Immune-Mediated Diseases in Childhood.
Mediterranean journal of hematology and infectious diseasesThe cally index as an indicator of inflammatory burden across clinical phases of familial mediterranean fever.
Clinical rheumatologyCanakinumab treatment in patients with colchicine-resistant familial mediterranean fever: a multicenter observational study.
Turkish journal of medical sciencesComparative analysis of exon 10 and non-exon 10 variants in children with familial mediterranean fever: a retrospective cohort study.
European journal of pediatricsClinical, immunological characterisation and treatment response of patients with syndrome of undifferentiated recurrent fever in Chinese children and adolescents: a single-centre cohort study.
Frontiers in immunologyLarge-vessel vasculitis in Behçet's disease carrying MEFV exon 10 variants: A case suggesting a pyrin-associated autoinflammatory background.
Modern rheumatology case reportsClinical, genetic, and therapeutic differences in pediatric versus adult colchicine-resistant FMF patients.
Pediatrics international : official journal of the Japan Pediatric SocietyCorrespondence on 'EULAR/PReS endorsed recommendations for the management of familial Mediterranean fever (FMF): 2024 update' by Ozen et al.
Annals of the rheumatic diseasesEvaluation of clinical concordance in FMF siblings with identical biallelic exon 10 variants.
Postgraduate medicineAI-Powered Detection of Cutaneous Involvement in Familial Mediterranean Fever.
International journal of rheumatic diseasesColchicine-Treated Familial Mediterranean Fever Patients Are Associated With a Lower Prevalence of Mitral Annular Calcification.
Echocardiography (Mount Kisco, N.Y.)Real-World Efficacy, Safety, and Drug Retention of Anakinra and Canakinumab in Pediatric Colchicine-Resistant Familial Mediterranean Fever: Insights from a Single-Center Cohort.
Modern rheumatologyColchicine resistance prediction criteria from the TURPAID cohort do not apply to the JIR cohort: a multicentre descriptive analysis.
RMD openFamilial Mediterranean Fever Presenting with Recurrent Abdominal Pain without Periodic Fever following COVID-19: A Case Report.
Internal medicine (Tokyo, Japan)Machine-learning algorithms for predicting colchicine resistance in Familial Mediterranean Fever.
Rheumatology (Oxford, England)The Effect of a Mobile Game Developed for Children with Familial Mediterranean Fever on Disease Management and Quality of Life: A Randomized Controlled Trial.
Games for health journalClinical features of patients with familial Mediterranean fever over 50 years of age: a single-center experience.
Internal and emergency medicineAssessment of colchicine adherence and influencing factors in paediatric familial Mediterranean fever.
Scandinavian journal of rheumatologyDiagnostic Value of the Systemic Immune-Inflammation Index in Differentiating Acute Appendicitis From Familial Mediterranean Fever in Children.
Pediatric emergency careEvaluation of pediatric FMF patients with biallelic pathogenic exon 10 variants: focus on chest pain.
European journal of pediatricsTemporomandibular joint ankylosis associated with psoriasis and familial Mediterranean fever: a rare case report.
Journal of stomatology, oral and maxillofacial surgeryPaediatric colchicine poisoning in the UK: a 10-year retrospective case series from the National Poisons Information Service.
Archives of disease in childhoodGenetic, and clinical features in Italian and lebanese subjects with familial mediterranean fever (FMF).
European journal of internal medicineInflammatory ankle MRI findings in pediatric and young adult patients with familial Mediterranean fever: a comparison with juvenile idiopathic arthritis and chronic nonbacterial osteomyelitis.
Skeletal radiologyAutonomic dysfunction and its associations with clinical parameters in Familial Mediterranean Fever: a cross-sectional study.
Rheumatology internationalImpact of MEFV gene variants on clinical presentation in Familial Mediterranean Fever: A focus on Exon 2 mutations.
Reumatologia clinicaAnti-citrullinated Protein Antibody-positive Arthralgia Associated with an L110P-E148Q Double Heterozygote: A Case-based Review.
Internal medicine (Tokyo, Japan)Targeting cytokine pathways: the role of biologics in autoinflammatory disorders.
Expert review of clinical immunologyThe clinical significance of the Mediterranean fever gene MEFV variants in Castleman disease.
Communications medicineCachexia as an unusual presentation of familial Mediterranean fever: A case report.
World journal of clinical casesThe Relationship Between Gene Subtypes, Symptoms, and Cardiac Function in Patients with Familial Mediterranean Fever.
Journal of clinical medicineLeft Ventricular and Left Atrial Strain Characteristics in Patients with Familial Mediterranean Fever Receiving Long-Term Colchicine Therapy.
Diagnostics (Basel, Switzerland)[Genetic basis of chronic nonbacterial osteomyelitis].
Zeitschrift fur RheumatologieIllness perception as a determinant of medication adherence in adult Turkish patients with familial Mediterranean fever.
Clinical and experimental rheumatologyAssessment of Interleukin-33 Levels in Patients with Familial Mediterranean Fever.
Romanian journal of internal medicine = Revue roumaine de medecine interneOutcomes of assisted reproductive technology in patients with immune-mediated rheumatic diseases: A systematic review and meta-analysis.
Journal of reproductive immunologyHow Physicians Manage Colchicine-Resistant Familial Mediterranean Fever: Insights From a Multinational Survey in High-Prevalence Countries.
The Journal of rheumatologyEvaluation of the Effect of IL-1 Antagonists on Pituitary Function.
International journal of endocrinologyIs the decision maker a key determinant of colchicine withdrawal success in paediatric heterozygous familial Mediterranean fever patients?
Scandinavian journal of rheumatologyFamilial Mediterranean Fever: A Diagnostic and Therapeutic Challenge.
CureusFamilial mediterranean fever and long-term cardiovascular disease burden.
The American journal of medicineColchicine discontinuation in familial Mediterranean fever: short-term outcomes by pre-discontinuation attack frequency.
Clinical rheumatologyAssociation of HLA-B alleles with familial mediterranean fever (FMF): A comparative study.
Immunologic researchEfficacy and tolerability of switching from coated to compressed colchicine preparations in patients with Behçet's syndrome.
Rheumatology (Oxford, England)Colchicine prophylaxis in pediatric PFAPA: a systematic review.
European journal of pediatricsFamilial Mediterranean Fever: A Comprehensive Review of Pathogenesis, Genetics, and Epigenetic Regulation.
Balkan medical journalImpact of Mediterranean Fever Gene Mutations on Clinical Characteristics in Patients With Inflammatory Bowel Disease.
Gastro hep advancesCo-occurrence of autoimmune diseases and metabolic disorders in familial mediterranean fever patients: review of literature and case reports.
Frontiers in immunologyGrowth and pubertal development in children with familial Mediterranean fever under colchicine therapy.
European journal of pediatricsNephrotic syndrome genomic discovery in the Mass General Brigham Biobank identifies monoallelic MEFV variants as a risk factor for focal segmental glomerulosclerosis.
Kidney internationalImpact of celiac disease on patients with familial Mediterranean fever: a nationwide study based on the Türkiye database.
Frontiers in immunologyClinical Implications of Vasculitis Associated with Familial Mediterranean Fever: A Comparative Study in Childhood.
Modern rheumatologyAdalimumab-responsive Monogenic Inflammatory Bowel Disease With Pseudopolyposis Characteristic of TGFBR2 Variant in Loeys-Dietz Syndrome.
DEN openA Case of Familial Mediterranean Fever Diagnosed After Oral Administration of a Gonadotropin-Releasing Hormone (GnRH) Antagonist.
CureusFamilial Mediterranean Fever With Compound Heterozygosity for the Pyrin Variant L110P-E148Q: A Case Report.
CureusImmunogenetics of Behçet's disease: Is there a link to recent phenotypic changes?
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyDistinct Natural Killer Cell Signature in Still Disease: Insights From a Multinational Immunome Project Consortium for Autoinflammatory Disorders.
Arthritis & rheumatology (Hoboken, N.J.)Anesthetic Management of a Dental Patient With Familial Mediterranean Fever.
Anesthesia progressColchicine in coronary artery and cerebrovascular disease: "Old skin for the new ceremony".
World journal of cardiologyEfficacy and safety of anti-interleukin-6 treatment in familial Mediterranean fever: a systematic literature review.
ReumatologiaSpeckSeq enables high-throughput functional stratification of MEFV variants in autoinflammatory diseases.
The Journal of experimental medicineValidity of the Eurofever/PRINTO genetic FMF classification criteria in FMF and PFAPA patients carrying non-confirmatory MEFV gene mutations.
Clinical rheumatologyRETRACTED: Kaya et al. The Superiority of Compressed Colchicine Tablets over Coated Colchicine Tablets for Familial Mediterranean Fever. Medicina 2024, 60, 1728.
Medicina (Kaunas, Lithuania)Assessment of Nutritional Status in Children with Familial Mediterranean Fever Using Prognostic Nutritional Index and Controlling Nutritional Status Score: Relationship with Clinical Findings and MEFV Mutations.
Children (Basel, Switzerland)Dental Age Estimation by Demirjian, Willems, and Cameriere Methods in Children with Familial Mediterranean Fever: A Case-Control Study.
Children (Basel, Switzerland)Comparative analysis of conventional and novel inflammatory biomarkers in Familial Mediterranean fever during attack-free periods.
Advances in rheumatology (London, England)Abdominal Pain Attacks and Angioedema in a Patient With a Homozygous MEFV Mutation: Concurrent FXII Hereditary Angioedema.
Journal of investigational allergology & clinical immunologyPrecision genomic profiling in Gaucher disease: insights from atypical presentations.
Frontiers in geneticsAutoinflammatory periodic fever syndromes in preschoolers: neurodevelopmental, behavioral, and maternal psychosocial outcomes.
European journal of pediatricsAssociation of Mediterranean diet adherence with familial Mediterranean fever severity in a Lebanese cohort.
Pediatric rheumatology online journal[What is an undifferentiated systemic autoinflammatory disease in adults? Current state of knowledge in 2025].
La Revue de medecine interneIncreased risk of psoriatic arthritis in patients with familial Mediterranean fever: a population-based cohort study.
Rheumatology (Oxford, England)Maternal and fetal risks in familial mediterranean fever: focus on adverse pregnancy outcomes.
Clinical rheumatologySerum resistin levels in pediatric familial Mediterranean fever: Potential biomarker for inflammatory activity.
World journal of clinical pediatrics[An unusual cause for kidney transplantation].
Innere Medizin (Heidelberg, Germany)Common features of rare disease patients in the emergency department: a systematised literature review.
Orphanet journal of rare diseasesCorrespondence on "comparative evaluation of ChatGPT and LLaMA for reliability, quality, and accuracy in familial Mediterranean fever".
European journal of pediatricsFamilial Mediterranean Fever-Related Peritonitis Visualized on Computed Tomography.
JMA journalExploring the Role of MEFV Gene Mutations in Pediatric Drug-Resistant Epilepsy.
Iranian journal of child neurologyLate-onset-case of Familial Mediterranean fever (FMF)-exotic but rising differential diagnosis of "unclear abdominal illness" in Germany due to increasing migration over the past decade.
Wiener medizinische Wochenschrift (1946)Phenotypes of patients with more than one autoinflammatory disease-associated gene variant: overlapping and mixed autoinflammatory disorders.
Rheumatology (Oxford, England)Idiopathic Recurrent Serositis: A Multispecialty Challenge Resolved With Colchicine.
CureusThe clinical management of adult patients with Familial Mediterranean fever.
Expert review of clinical immunologyChatGPT, Gemini, and Grok on familial mediterranean fever: are they trustworthy?
Clinical rheumatologyFrom ulcerative colitis to amyloid storm: a case-based review.
Rheumatology internationalPediatric COPA Syndrome Overlapping With Heterozygous Familial Mediterranean Fever: A Dual Inflammatory Disorder.
Case reports in pediatricsSuccessful multimodal intensive care management including early plasmapheresis and granulocyte colony stimulating factor in severe colchicine poisoning: A case report.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for HaemapheresisA semi-automated ASC speck assay to evaluate pyrin inflammasome activation.
Clinical & translational immunologyEffect of MEFV mutations and HLA-B27 on clinical findings of familial Mediterranean fever and spondyloarthritis.
MedicineA single dose of anakinra for arresting familial Mediterranean fever attacks: a proof-of-concept study.
Clinical and experimental rheumatologyWhat Large Language Models offer about Familial Mediterranean Fever: An Analysis of Quality, Readability, Completeness, and Accuracy.
Mediterranean journal of rheumatologyScrotal Pain in Familial Mediterranean Fever: A Series of Three Case Reports and Literature Review.
Mediterranean journal of rheumatologyRetinal clues to subclinical inflammation in familial Mediterranean fever.
Pediatric researchLiver function changes in pediatric FMF: exploring disease dynamics and therapy impacts.
European journal of pediatricsOverlap of familial Mediterranean fever and APLAID treated with anakinra: a case-based review.
Clinical rheumatologyFirst Genetically Confirmed Case of Familial Mediterranean Fever in Somalia: A Case Report and Diagnostic Challenges in Resource-Limited Setting.
International medical case reports journalEffect of colchicine in heart failure patients with metabolic syndrome: Focus on inflammatory mechanisms.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieImpact of Colchicine Therapy on Ventriculoarterial Coupling in Familial Mediterranean Fever: A Cross-Sectional Study.
Journal of clinical medicineEvaluation of biological treatment in pediatric patients with familial Mediterranean fever: a retrospective study of 832 patients.
Expert opinion on biological therapyGrisel syndrome in pediatric rheumatic diseases as a rarely recognized complication: case-based review.
Clinical rheumatologyThe effect of health literacy on colchicine adherence in adolescents with familial Mediterranean fever.
Postgraduate medicineThe decline of AA amyloidosis in familial Mediterranean fever is significant, but the story is not over.
Clinical and experimental rheumatologyReal-world Use of Canakinumab in Familial Mediterranean Fever and Other Autoinflammatory Disorders: A Medical Records Review Single-center Study From Turkey.
Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseasesPrevalence, incidence and geographic distribution of familial Mediterranean fever in Turkey: a national cohort study.
Clinical and experimental rheumatologyPreliminary Evidence for Sex-Specific Trends in Probiotic Modulation of Gut Saccharibacteria in Familial Mediterranean Fever Patients: Effects of Lactobacillus acidophilus INMIA 9602 Er 317/402 and Escherichia coli M-17.
International journal of molecular sciencesSerum Galectin-3 and Presepsin Levels in Pediatric Familial Mediterranean Fever Patients During Remission: A Prospective Study.
Diagnostics (Basel, Switzerland)Comparative analysis of global practices in the management of colchicine-resistant familial Mediterranean fever: a CliPS network analysis.
RMD openImmature granulocyte percentage: a practical marker of acute ınflammation in pediatric familial mediterranean fever: A retrospective observational case-control study.
Clinical rheumatologyPSTPIP1 and pyrin, two key regulators of macrophage differentiation.
European journal of cell biologyIdentification of pathogenic MEFV variants in Korean patients with familial Mediterranean fever via whole-genome sequencing: a case report.
Journal of rheumatic diseasesDevelopment and Validation of a Rapid and Simple UHPLC-MS/MS Method for the Determination of Colchicine in Human Plasma.
Biomedical chromatography : BMCS100A9 promotes inflammasome-dependent autoinflammation by blocking the degradation of SYK tyrosine kinase.
Journal of leukocyte biologyFamilial Mediterranean fever and reproductive systems, our experience in two decades: A letter to editor.
International journal of reproductive biomedicineThe impact of homozygous mutations in exon 10 on musculoskeletal findings in children with familial mediterranean fever.
European journal of pediatricsPhysical Activity Levels of Adolescents with Familial Mediterranean Fever.
Clinical pediatricsEvaluation of rheumatic causes underlying childhood-onset arthritis.
Turkish journal of medical sciencesMevalonate kinase deficiency in a familial Mediterranean fever endemic region: a single-center experience.
The Turkish journal of pediatricsObstetric and neonatal outcomes in pregnancies with familial mediterranean fever: a comparative study.
Rheumatology internationalFamilial Mediterranean fever (FMF) complicated by adhesive small bowel obstruction: a diagnostic challenge.
BMJ case reportsNon-canonical manifestations of FMF in homozygous M694V MEFV genotype: Insights from a large patient cohort.
Seminars in arthritis and rheumatismNeurological involvement in children with familial Mediterranean fever: a systematic review.
Pediatric rheumatology online journalImmune-Related Comorbidities in Pediatric Familial Mediterranean Fever: A Hidden Burden beyond Autoinflammation.
International archives of allergy and immunologyAdhesive small bowel obstruction with familial Mediterranean fever, case series and literature review.
International journal of surgery case reportsTranscriptome analysis of unmedicated heterozygous familial Mediterranean fever patients reveals a type I interferon signature driving increasing Pyrin expression.
Annals of the rheumatic diseasesVasculitis as an indicator of disease severity in familial Mediterranean fever.
Frontiers in immunologyDiagnostic Utility of the Ocular Surface Test for Psoriasis-Associated Conjunctivitis: A Case Report.
CureusThe impact of peer victimization and psychological symptoms on quality of life in children and adolescents with FMF.
Pediatrics international : official journal of the Japan Pediatric SocietyVasculitis in autoinflammatory diseases.
Current opinion in rheumatologyThe effects of self-efficacy in managing the disease and disease adaptation levels of Familial Mediterranean Fever (fmf) patients on satisfaction with life: a web-based cross-sectional study.
Orphanet journal of rare diseasesNutritional status in children with familial Mediterranean fever.
Postgraduate medicine[Use of IL-1 inhibitors in the treatment of familial Mediterranean fever in pediatric rheumatology].
Zeitschrift fur RheumatologieDifferentiating familial Mediterranean fever attacks from acute appendicitis in children: which laboratory parameters are useful?
Scandinavian journal of rheumatologyPredictive factors for therapeutic response and cluster analysis in syndrome of undifferentiated recurrent fever (SURF).
RMD openThe Turkish Pain Catastrophizing Scale-Child in Adolescents with Familial Mediterranean Fever: A Psychometric Analysis.
Archives of rheumatologyA Unique Complex Variation Profile in a Patient with Familial Mediterranean Fever (FMF): Triple Homozygous E148Q-P369S-R408Q - "Case Report".
The application of clinical geneticsThree-year follow-up of canakinumab dose extension in children with colchicine-resistant familial Mediterranean fever: PeRA-RG Experience.
Rheumatology (Oxford, England)Vascular characteristics of pediatric patients with familial Mediterranean fever: a study of optical coherence tomography angiography findings.
Japanese journal of ophthalmologyFamilial Mediterranean Fever as a Cause of Recurrent Pleurisy in a Child With Crohn's Disease: A Case Report.
Case reports in pulmonology[Clinical characteristics and treatment outcomes in patients with recurrent pericarditis].
Zhonghua xin xue guan bing za zhi"What do patients do during a familial Mediterranean fever attack? Their strategies and associated factors: a critical appraisal.
Internal and emergency medicineReported Triggers and Self-reported Management Strategies in Children With Familial Mediterranean Fever.
Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseasesCase Report: Sacroiliitis in Familial Mediterranean Fever Mimicking Septic Arthritis-A Diagnostic Challenge.
International journal of rheumatic diseasesMediterranean fever gene variants may prevent the development of lupus nephritis in Japanese patients with systemic lupus erythematosus.
Frontiers in immunologyComparative evaluation of ChatGPT and LLaMA for reliability, quality, and accuracy in familial Mediterranean fever.
European journal of pediatricsChange in Gasdermin-D gene expression in familial Mediterranean fever compared to healthy children with or without acute infections.
The Turkish journal of pediatricsImpact of Familial Mediterranean Fever on Choroidal Tissue: A Study of Choroidal Thickness and Vascularity in Pediatric Patients.
Ocular immunology and inflammationUtilization of disease activity scores and acute phase reactants in predicting colchicine response assessed by FMF50: a retrospective cohort study in children with Familial Mediterranean Fever.
Clinical rheumatologyConcomitant Systemic Autoinflammatory Diseases: Diagnostic and therapeutic challenges.
Sultan Qaboos University medical journalA Case of Colchicine Overdose and Toxicity.
CureusPrevalence of neurological manifestation in familial mediterranean fever patients: systematic review & meta-analysis.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyNavigating Bariatric Surgery in Familial Mediterranean Fever.
Obesity surgeryGuided management of familial Mediterranean fever.
Nature reviews. RheumatologySclerosing encapsulating peritonitis as a rare complication of familial Mediterranean fever.
Rheumatology (Oxford, England)Pediatric Immunoglobulin A Vasculitis: Impact of Mediterranean Fever Gene Variants on Clinical Course and Inflammatory Markers.
Turkish archives of pediatricsPeriodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome in Children-From Pathogenesis to Treatment Strategies: A Comprehensive Review.
Paediatric drugsPeriodontitis and Mediterranean fever: a systematic review and metaanalysis.
Quintessence international (Berlin, Germany : 1985)The role of epigenetic modifications in systemic autoinflammatory diseases.
Current opinion in immunologyClinical features and novel pathogenic variants of patients with Behçet's disease like trisomy 8.
Orphanet journal of rare diseasesM694I variant of MEFV drives pathogenesis of familial Mediterranean fever through enhanced Th17 cell differentiation.
Rheumatology (Oxford, England)What do patients do during a familial Mediterranean fever attack? Their strategies and associated factors.
Internal and emergency medicineTransient elastography measurements of the liver and transplanted kidney in patients with AA amyloidosis: a cross-sectional comparative study.
Rheumatology international[Genetic diagnostics in fever syndromes].
Zeitschrift fur RheumatologieAA amyloidosis with multiorgan involvement secondary to familial Mediterranean fever (FMF): dreadful consequences of delayed diagnosis and management.
BMJ case reportsAccurate Diagnosis of Familial Mediterranean Fever Improved Quality of Life for a Patient and Her Family: A Case Report.
Journal of Nippon Medical School = Nippon Ika Daigaku zasshiEfficacy and safety of treatments in familial Mediterranean fever and its complications: a systematic review informing the EULAR/PReS recommendations for familial Mediterranean fever.
Annals of the rheumatic diseasesGenetic Basis of Autoinflammatory Skin Diseases. Part I. Genetic Pathways of Complex Autoinflammatory Skin Diseases.
Journal of the American Academy of DermatologyRe-evaluation of MEFV carriers previously diagnosed with FMF: a colchicine discontinuation study.
Rheumatology (Oxford, England)Unresolved Issues in Familial Mediterranean Fever: Is p.R202Q MEFV Variant Potentially Pathogenetic in Unleashing Inflammation?
Journal of clinical immunologyThe Mediterranean spring-the second revolution (and the first) in the management of familial Mediterranean fever.
Annals of the rheumatic diseasesRetinal changes in children with Familial Mediterranean Fever: the effect of chronic subclinical inflammation.
Pediatric researchProphylactic colchicine for familial Mediterranean fever: response rates revisited.
Scandinavian journal of rheumatologyCanakinumab treatment patterns in sJIA, FMF, TRAPS, and MKD/HIDS: real-world insights from a Belgian non-interventional study.
BMC rheumatologyEvaluation of anti-HBs seropositivity rates in children with familial mediterranean fever.
European journal of pediatricsWhat do patients with familial Mediterranean fever and the doctors who prescribe it know about colchicine? Results of a national survey of 255 patients and 203 doctors in France.
La Revue de medecine interneInvestigation of the expression levels of MEFV gene in patients with frequent MEFV pathogenic variants in Kahramanmaras (Turkey).
Nucleosides, nucleotides & nucleic acidsSuccessful treatment with tocilizumab in a case of familial Mediterranean fever with Takayasu arteritis.
Modern rheumatology case reportsEfficacy and Safety of Anakinra in Colchicine-Resistant or -Intolerant Familial Mediterranean Fever: A Single-Center Real-Life Experience.
Medicina (Kaunas, Lithuania)Genetic Variants in Early-Onset Inflammatory Bowel Disease: Monogenic Causes and Clinical Implications.
Children (Basel, Switzerland)Global research trends and hotspots in erysipelas: a bibliometric analysis from 2000 to 2024.
Frontiers in medicinePulmonary Findings in Children With Colchicine-Resistant Familial Mediterranean Fever.
Pediatric pulmonologySelective immunoglobulin E deficiency and its association with autoimmune and autoinflammatory diseases.
Allergy and asthma proceedingsGenotype-phenotype correlations and resistance to colchicine in a familial Mediterranean fever cohort in southwestern Spain.
European journal of internal medicineEvaluation of Plasma Soluble Cd40 Ligand Levels in Children with Familial Mediterranean Fever and Its Relationship with Carotid Intima-Media Thickness.
Diagnostics (Basel, Switzerland)Hyperimmunoglobulinemia D Syndrome Masquerading as Familial Mediterranean Fever, Hidradenitis Suppurativa, and Crohn's Disease: A Case Report.
Saudi journal of medicine & medical sciencesGenetic and clinical features of familial Mediterranean fever in a cohort of patients with kidney failure.
Journal of nephrologyElevated serum levels of interleukin-18 discriminate Still's disease from other autoinflammatory conditions: results from the European ImmunAID cohort.
RMD openVaccine hesitancy among parents of children with chronic diseases of different pathophysiology: a cross-sectional study in Sivas, Türkiye.
BMC public healthAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Febre mediterrânica familiar.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Febre mediterrânica familiar
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Health-related quality of life in children with Familial Mediterranean Fever: a Pediatric Quality of Life Inventory-based evaluation with mutation-specific analysis.
- γδ T Cells in Autoinflammatory Diseases.
- Canakinumab treatment in patients with colchicine-resistant familial mediterranean fever: a multicenter observational study.
- Comparative analysis of exon 10 and non-exon 10 variants in children with familial mediterranean fever: a retrospective cohort study.
- Clinical, genetic, and therapeutic differences in pediatric versus adult colchicine-resistant FMF patients.Pediatrics international : official journal of the Japan Pediatric Society· 2026· PMID 41782418mais citado
- Modulation of Inflammasome Activity by miR-197-3p in Familial Mediterranean Fever Mouse Macrophages.
- Effect of inspiratory muscle training on fatigue, aerobic capacity, pulmonary functions, and quality of life in adolescents with familial Mediterranean fever: a randomized controlled trial.
- Severe tortuosity but not altered retinal vessel diameters in children and young adults with Familial Mediterranean Fever: a case-control study.
- Age-related decline in FMF activity: biological signal or modeling artifact?
- Case Report: Gitelman syndrome with a suspected MEFV- associated autoinflammatory phenotype: diagnostic challenges in a complex case.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:342(Orphanet)
- MONDO:0018088(MONDO)
- GARD:6421(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1144618(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
