scholarly journals SAT0541 THE SEVERITY OF FMF MAY BE ASSOCIATED WITH CO-MORBIDITIES

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1227.3-1228
Author(s):  
M. E. Tezcan ◽  
N. Şen ◽  
M. Yilmaz ◽  
Ö. Volkan ◽  
E. Tükel ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Scoring System ◽  
Disease Duration ◽  
Severe Disease ◽  
Smoking History ◽  
Disease Group ◽  
Severity Scoring ◽  
Mild Disease ◽  
Co Morbidity ◽  
Mediterranean Fever

Background:Familial Mediterranean fever (FMF) is an auto inflammatory disease with recurrent attacks of serositis. Frequent attacks and disease related sequels may be associated with co-morbidities in FMF patients.Objectives:One of the tools for evaluating the FMF severity is the international severity scoring system for FMF (ISSF)1. This score includes disease related sequels, acute phase measurements, attack features and exertional leg pain. Therefore, more severe disease may be link with subclinical inflammation, amyloidosis and frequent, prolonged and widespread attacks. All these components may augment the frequency of non-disease related co-morbidities.Methods:We enrolled 158 FMF patients who fulfilled modifiedTel-HashomerDiagnosisCriteria2. The patients dichotomized based upon disease severity (mild disease or severe disease). Patients with ISSF scores lower or equal to 2 were accepted to have mild disease. Then, we compared frequency of non-disease related co-morbidities between the groups. These co-morbidities arehypertension, hypothyroidism, hyperthyroidism cardiovascular diseases, coronary artery diseases, cerebrovascular diseases, chronic renal disease (non-FMF related), chronic obstructive pulmonary diseases, and diabetes mellitus. This study was approved by the Local Research Ethics Committee and carried out in compliance with the Helsinki Declaration. All the patients gave written informed consent. P-value lower than 0.05 was considered as statistically significant.Results:Demographic features, disease duration, smoking history and body mass index (BMI) were similar between the groups. Frequency of co-morbidity in severe disease group was statistically higher than mild disease group (p=0.02). Most frequent co-morbidity was hypertension in both groups.Table.Features of mild and severe FMF groupsMild (n=135)Severe (n=23)pGender (M/F)47/8811/120.23Age36.4±11.336.5±14.30.68Smoking (%)38 (28.1)5 (21.7)0.52BMI (kg/m2)24.3±9.224.0±8.90.34Disease duration (year)7.7±11.38.6±14.30.09Amyloidosis (%)2 (1.4)3 (13.0)0.02Exon 10 homozygote (%)35 (25.9)9 (39.1)0.19Colchicine dosage (mg/day)1.2±0.41.4±0.50.02ISSF scores0.7 ±0.73.4±0.5<0.001Co-morbidity (%)25 (18.5)9 (39.1)0.02Conclusion:In our FMF patient cohort, we found that severity of the disease may be associated with higher frequency of co-morbidities. Therefore, clinicians should be aware of the high possibility of co-morbidities in patients with more severe FMF and addressed these co-morbidities timely and properly.References:[1]Demirkaya E, et al. Development and initial validation of international severity scoring system for familial Mediterranean fever (ISSF). Ann Rheum Dis 2016;75:1051-6.[2]Berkun Y, et al. Diagnostic criteria of familial Mediterranean fever. Autoimmun Rev 2014;13:388-90.Acknowledgments:NoneDisclosure of Interests:None declared

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

Enthesitis may be one of the signs of severe disease in familial Mediterranean fever

2020 ◽  
Author(s):  
Nesrin Sen ◽  
Mesut Yilmaz ◽  
Ridvan Mercan ◽  
Omur Volkan ◽  
Sibel Yilmaz-Oner ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Severe Disease ◽  
Mediterranean Fever

scholarly journals COVID-19 in Patients With Hematologic Malignancies: A Single Center Retrospective Study

2021 ◽  
Vol 11 ◽  
Author(s):  
Xuejun Alice Wang ◽  
Adam F. Binder ◽  
Usama Gergis ◽  
Lindsay Wilde
Keyword(s):  
Hematologic Malignancies ◽  
Smoking History ◽  
Third Wave ◽  
The Novel ◽  
Mild Disease ◽  
Patients With Cancer ◽  
Lymphoid Malignancies ◽  
Co Morbidity ◽  
Novel Coronavirus ◽  
Overall Mortality

Initial studies that described the novel coronavirus (COVID-19) reported increased morbidity and mortality in patients with cancer. Of this group, patients with hematologic malignancies (HM) had the highest disease severity and death rates. Subsequent studies have attempted to better describe how COVID-19 affects patients with HM. However, these studies have yielded variable and often contradictory results. We present our single-institution experience with patients with HM who were diagnosed with COVID-19 from March 2020 to March 2021. We report 62 total cases with 10 patients who died during this time. The overall mortality was 16.1%. Mortality during the first two waves of COVID was 27.8% and 25%. Mortality during the third wave of COVID was 10%. The median age of patients was 67 years (range 20-89 years). 55% of patients had lymphoid malignancies and the majority had active disease at the time of diagnosis with COVID-19. 87% of patients had more than one co-morbidity. Important co-morbidities included cardiovascular disease and smoking history. 38.7% of patients had asymptomatic or mild disease, 54.8% required hospitalization, and 17.5% required ICU level care. In patients who required ICU level care, the mortality was 60%.

scholarly journals Sacroiliitis in children and adolescents with familial Mediterranean fever

2021 ◽  
Vol 61 (1) ◽  
Author(s):  
Hülya Kaçmaz ◽  
Esin Aldemir ◽  
Ayşe Tanatar ◽  
Şerife Gül Karadağ ◽  
Mustafa Çakan ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Heel Pain ◽  
Common Mutation ◽  
Low Back ◽  
Hla B27 ◽  
Acute Phase Reactants ◽  
Laboratory Findings ◽  
Co Morbidity ◽  
Mediterranean Fever ◽  
Involvement Rate

Abstract Background Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by recurrent episodes of fever and serositis. Sacroiliitis can be observed in some FMF patients. This study aimed to compare the demographic, clinical, and laboratory findings, and treatment in children with FMF and sacroiliitis, and children with juvenile spondyloarthropathy (JSpA). Methods In total, 1687 pediatric FMF patients that were followed-up between May 2010 and June 2020 were evaluated retrospectively. Among them, those with sacroiliitis (n = 63) were included in the study and compared to patients with JSpA (n = 102). Results The study included 63 FMF patients with sacroiliitis (38 males [60.3%] and 25 females [39.7%]) with a mean age of 15.2 ± 4.1 years. Mean age at symptom onset was 7.2 ± 5.05 years and mean age at diagnosis was 9.74 ± 4.67 years. The most common mutation in the FMF patients was M694V/M694V (n = 22). Patients were diagnosed with sacroiliitis with a mean of 12 months (range: 6–36 months) after the diagnosis of FMF. Among the FMF patients, 28 (44.4%) had enthesitis, 23 (36.5%) had heel pain, and 11 (17.4%) had low back pain. The study also included 102 JSpA patients (90 males [88.2%] and 12 females [11.8%]). Mean age of patients with JSpA was 16.1 ± 2.8 years. As compared to 102 JSpA patients, patients with FMF and sacroiliitis had higher acute phase reactants, whereas HLA-B27 positivity rate was lower. In addition, axial involvement rate was higher in the JSpA patients. Conclusion Sacroiliitis is a common co-morbidity in FMF patients. The phenotypic features of these patients are different from patients with JSpA.

Clinical and molecular analysis of common MEFV gene mutations in familial Mediterranean fever in Sivas population

Biologia ◽  
2009 ◽  
Vol 64 (2) ◽  
Author(s):  
Binnur Koksal ◽  
Naim Nur ◽  
Musa Sari ◽  
Ferhan Candan ◽  
Mursit Acemoglu ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Severe Disease ◽  
Mefv Gene ◽  
Point Mutations ◽  
Gene Mutations ◽  
Homozygous Mutation ◽  
Frequent Mutation ◽  
Mefv Mutations ◽  
Wide Range ◽  
Mediterranean Fever

AbstractFamilial Mediterranean fever (FMF) is the most frequent hereditary inflammatory disease characterized by self-limited recurrent attacks of fever and serositis. The aim of the current study is to determine the frequency of the mutations in 365 suspected FMF patients and to reveal whether there is a correlation between genotype and phenotype of these patients. All patients were clinically examined according to Tell-Hashomer FMF criteria and were screened genetically in terms of common 12 Mediterranean fever gene (MEFV) mutations. Various point mutations were detected in 270 (74%) patients. The most frequent mutation was M694V (26.85% of the alleles) and was followed by E148Q (15.55%), M680I (G/C) (9.62%) and V726A (7.96%). Patients who bear M694V homozygous mutation had most severe disease phenotype and high risk for amyloidosis (P = 0.04). Our results indicate that Sivas population has a wide range of heterozygous mutated carriers of MEFV gene and there is a high frequency of E148Q allele when compared to the other Mediterranean groups.

scholarly journals Comparison of hematological parameters in mild and severe COVID-19 infected patients: A retrospective observational study

Biomedicine ◽  
2021 ◽  
Vol 41 (4) ◽  
pp. 799-804
Author(s):  
Tania Eltrida Pinto ◽  
Rithesh Joseph D'Cunha ◽  
Shannon Fernandes ◽  
. Nireeksha ◽  
Gurumurthy T.
Keyword(s):  
Medical Records ◽  
Leukocyte Count ◽  
Hematological Parameters ◽  
Demographic Data ◽  
Severe Disease ◽  
Disease Group ◽  
Differential Leukocyte Count ◽  
Mild Disease ◽  
Significant Difference ◽  
D Dimer

Introduction and Aim: With the coronavirus disease 2019 (COVID-19) pandemic raging on, there is a need to identify clinical and laboratory predictors which predict progression towards severe and fatal forms of this illness. Our study aims to evaluate the ability of hematologic and biochemical biomarkers to discriminate between patients with and without severe or fatal forms of COVID-19.   Materials and Methods: A retrospective study was conducted on 200 Covid positive patients;100 with mild disease and 100 with severe disease. Medical records were reviewed to collect demographic data and results of the following blood investigations were noted at admission: Hb, Platelet count, Total and Differential leukocyte count, CRP, AST, ALT, LDH, Ferritin and D-Dimer. Comparative analysis was performed between the 2 groups.   Results: A significant difference in the basophil count (mean 2.35 and 5.92) among those with mild and severe disease respectively was noted as also with the eosinophil count (mean 6.88 and 1.79). The levels of CRP were higher in those with severe disease as compared to the mild disease group (mean 276.29 and 65.23). Ferritin levels were markedly increased severe disease patients (mean 1275.66 and 533.94). D-dimer was markedly increased in COVID-19 patients with severe disease (mean 3813.91 ng/ml) compared to those with mild disease group (mean 521.78 ng/ml).   Conclusion: Hematological and biochemical markers positively correlate to the severity of covid infection, thus highlighting their role in the early diagnosis of the disease and can act as independent markers in predicting severity and prognosis of disease.

Infertility Causes and Pregnancy Outcome in Patients With Familial Mediterranean Fever (FMF) and Controls

2020 ◽  
pp. jrheum.200574
Author(s):  
Pavel Olegovich Sotskiy ◽  
Olga Leontevna Sotskaya ◽  
Hasmik Sureni Hayrapetyan ◽  
Tamara Fadei Sarkisian ◽  
Anna Rafaelovna Yeghiazaryan ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Pregnancy Outcome ◽  
Severe Disease ◽  
Colchicine Treatment ◽  
Control Group ◽  
Secondary Amyloidosis ◽  
Peritoneal Adhesions ◽  
Vitro Fertilization ◽  
Mediterranean Fever

Objective Recurrent attacks of peritonitis of Familial Mediterranean fever (FMF), may lead to peritoneal adhesions and fallopian tube obstruction. Colchicine - the treatment of choice for FMF - may disturb cell division. Secondary amyloidosis - a complication of untreated FMF - may involve the testes and ovaries. Thus, FMF and colchicine may potentially affect fertility and pregnancy in FMF patients. The aims of the study are to evaluate the causes of infertility and pregnancy outcome in FMF patients and to compare them with two groups: non-FMF patients with peritoneal female genital tuberculosis (FGTB) and normal healthy control. Methods This is a retrospective study in which FMF patients with reproductive disorders were recruited from the National Center of Medical Genetics and Primary Health Care in Yerevan, Armenia. The FGTB patients and the normal control patients with reproductive problems were recruited successively from a large gynecology clinic in Yerevan. Genetic analyses for FMF were performed using ViennaLab Diagnostics GmbH Strip Assay. Results The FMF group (211 patients) resembles the FGTB group (127 patients) regarding etiologies of infertility. However, in vitro fertilization (IVF) success rate and pregnancy outcome were comparable between the FMF patients and the control group (167patients). Infertility in FMF patients was clearly associated with a more severe disease and a lack of adequate colchicine treatment. Conclusion Colchicine medication and controlled FMF disease do not adversely affect the reproductive system and pregnancy outcome. However, a lack of an appropriate colchicine treatment may cause infertility and poor pregnancy outcome.

Development and initial validation of international severity scoring system for familial Mediterranean fever (ISSF)

2016 ◽  
Vol 75 (6) ◽  
pp. 1051-1056 ◽  
Author(s):  
Erkan Demirkaya ◽  
Cengizhan Acikel ◽  
Philip Hashkes ◽  
Marco Gattorno ◽  
Ahmet Gul ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Disease Severity ◽  
Severity Score ◽  
Characteristic Curve ◽  
Severe Disease ◽  
Clinical Manifestations ◽  
Future Research ◽  
Laboratory Findings ◽  
Therapeutic Decisions ◽  
Mediterranean Fever

ObjectiveTo develop widely accepted international severity score for children and adult patients with familial Mediterranean fever (FMF) that can be easily applied, in research and clinical practice.MethodsCandidate severity criteria were suggested by several FMF expert physicians. After three rounds of Delphi survey, the candidate criteria, defined by the survey, were discussed by experts in a consensus meeting. Each expert brought data of clinical manifestations, laboratory findings and physician's global assessments (PGAs) of minimum 20 patients from their centres. We used the PGAs for disease severity as a gold standard. Logistic regression analysis was used to evaluate the predicting value of each item, and receiver operating characteristic curve analysis was performed to demonstrate the success of the criteria set.ResultsA total of 281 patients consist of 162 children and 119 adults with FMF were enrolled and available for validity analysis: Nine domains were included in the final core set of variables for the evaluation of disease severity in FMF. The International Severity Score for FMF (ISSF) may reach a maximum of 10 if all items are maximally scored. The threshold values to determine: severe disease ≥6, intermediate disease 3–5, mild disease ≤2. Area under the curve was calculated as 0.825 for this set in the whole group.ConclusionsThe initial validity of ISSF both in children and adult with FMF was demonstrated. We anticipate that it will provide a robust tool to objectively define disease severity for clinical trials, future research as well as for therapeutic decisions in managing patients with FMF.

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