scholarly journals Predictors of persistent inflammation in children with familial Mediterranean fever

2021 ◽  
Author(s):  
Deniz Gezgin Yıldırım ◽  
Pelin Esmeray Senol ◽  
Oğuz Söylemezoğlu
Keyword(s):  
Chest Pain ◽  
Family History ◽  
Positive Family History ◽  
Disease Onset ◽  
Leg Pain ◽  
Subclinical Inflammation ◽  
Early Disease ◽  
Persistent Inflammation ◽  
Colchicine Resistance ◽  
Mediterranean Fever

ABSTRACT Objectives Persistent inflammation is an insidious feature of familial Mediterranean fever (FMF) that may cause chronic complications. This study aimed to investigate the predictors of persistent inflammation in children with FMF. Methods The medical charts of 1077 paediatric FMF patients were retrospectively collected. The patients were divided into two groups: with and without subclinical inflammation. Results A total of 133 (12%) patients had persistent inflammation. M694V homozygosity, colchicine resistance, positive family history for FMF, erysipelas-like erythema, leg pain, arthritis, chest pain, inflammatory comorbidities, early disease onset, high PRAS score, and long attack duration were established as independent predictors of persistent inflammation (P < .001, P < .001, P < .001, P < .001, P = 0.006, P < .001, P < .001, P = .014, P < .001, P < .001, and P < .001, respectively). However, gender, abdominal pain, fever, and attack frequency were not found to be independent risk factors for predicting persistent inflammation (P = .412, P = .531, P = .451, and P = .693, respectively). Conclusions M694V homozygosity, colchicine resistance, positive family history, erysipelas-like erythema, leg pain, arthritis, chest pain, inflammatory comorbidities, early disease onset, high activity score, and long attack duration may be predictors of persistent inflammation in FMF. These predictors may help clinicians suspect the occurrence of subclinical inflammation and should aid in better disease management in FMF.

Predictors of persistent inflammation in familial Mediterranean fever and association with damage

Rheumatology ◽  
2020 ◽  
Vol 60 (1) ◽  
pp. 333-339
Author(s):  
Hakan Babaoglu ◽  
Berkan Armagan ◽  
Erdal Bodakci ◽  
Hasan Satis ◽  
Nuh Atas ◽  
...  
Keyword(s):  
Disease Onset ◽  
Damage Index ◽  
Treatment Strategies ◽  
Leg Pain ◽  
Cross Sectional ◽  
Persistent Inflammation ◽  
Increased Risk ◽  
Education Levels ◽  
History Of ◽  
Mediterranean Fever

Abstract Objective Persistent inflammation is an insidious and less studied feature of FMF. We investigated clinical determinants of persistent inflammation and its associations with individual damage items. Methods This is a cross-sectional analysis of 917 FMF patients, who fulfilled the Tel Hashomer criteria and had at least 6 months’ follow-up. Patients were stratified based on whether they had persistent inflammation. We used logistic regression analysis to investigate independent predictors of persistent inflammation and the associated individual damage items. Results One hundred and forty-two (15%) patients had persistent inflammation. Active FMF (54%) was the most prominent reason for the persistent inflammation. Spondylarthritis (16%), other inflammatory arthritis (8%) and IBD (2%) were other frequent reasons. Male gender, history of exertional leg pain, inflammatory comorbidities, M694V homozygosity, colchicine resistance, lower education levels and musculoskeletal attack dominance were found to be the independent predictors of persistent inflammation. Earlier disease onset led to a tendency towards persistent inflammation. Patients with persistent inflammation were more likely to suffer damage. There is an increased risk of developing proteinuria, amyloidosis and renal insufficiency. Conclusion We identified, for the first time, the predictors of persistent inflammation in adult FMF patients and related individual damage items of the Autoinflammatory Disease Damage Index. Persistent inflammation is insidious and one of the chief causes of damage; therefore, especially patients with these predictors should be followed up more closely. If detected, underlying inflammatory comorbidities should be assessed meticulously as early detection and proper treatment strategies may favourably impact the natural history of the disease.

Genetic Insights into Early-onset Parkinson’s Disease

US Neurology ◽  
2010 ◽  
Vol 06 (01) ◽  
pp. 41
Author(s):  
Roy N Alcalay ◽  
Cheryl Waters ◽  
◽  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
Early Onset ◽  
Late Onset ◽  
Positive Family History ◽  
Disease Onset ◽  
Leucine Rich Repeat ◽  
Strong Family History ◽  
Early Onset Parkinson’S Disease

Early-onset Parkinson’s disease (EOPD) is defined as disease onset before 40 or 50 years of age. The clinical characteristics of EOPD are very similar to those of late-onset PD, but dystonia is more often a presenting symptom, dementia is rare, and disease progression may be slower. Mutations in several genes have been described in cases with EOPD, often with strong family history, including mutations in α-synuclein (SNCA),DJ-1, PTEN-induced kinase-1 (PINK-1), andATP13A2. However, the most common mutations identified in EOPD are in Parkin (PRKN), leucine-rich repeat kinase 2 (LRRK2), and glucocerebrosidase (GBA). With the exception ofSNCAandATP13A2carriers, mutation carriers are often indistinguishable from non-carriers. Large series of EOPD cases that are not ascertained by family history estimate mutation frequency at 4–16%. Given that the frequency of positive family history is much higher, we believe that many genetic risk factors are yet to be discovered.

scholarly journals P161 A comparative study of childhood-onset SLE with adult-onset patients: a single centre study

Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_1) ◽  
Author(s):  
Neil T Morton ◽  
Zoe Rutter-Locher ◽  
Maumar Durrani ◽  
Shirish Sangle ◽  
Nick Wilkinson ◽  
...  
Keyword(s):  
Family History ◽  
Renal Involvement ◽  
Positive Family History ◽  
Disease Onset ◽  
Adult Onset ◽  
Childhood Onset ◽  
Number Of Patients ◽  
Dsdna Antibody ◽  
History Of ◽  
Mixed Ethnicity

Abstract Background/Aims  Childhood-onset SLE (cSLE) was once associated with significant mortality but 5-year survival rates have now improved significantly. We retrospectively compared the clinical features and outcomes of cSLE patients with an adult-onset SLE (aSLE) group. Methods  We retrospectively studied data from 30 patients from our cSLE patients (onset before age 16) compared with 65 aSLE randomly selected in a 2:1 ratio, from our Lupus clinic patients fulfilling the 1997 ACR SLE criteria. Data regarding ethnicity, age of onset, family history, serology, complications, medications and outcomes were recorded. Results  Of cSLE patients 24 were female and 6 male (F:M ratio 4:1), with 16 patients (53%) Afro-Caribbean, 8 Caucasian, 5 Asian and 1 of mixed ethnicity. In the aSLE group, 60 patients were female and 5 male (ratio 9:1), with 29 (44%) Afro-Caribbean, 13 Asian, 21 Caucasian and 2 of mixed ethnicity. Median age at disease onset was 14 years (10-16) in cSLE and 29 years (17-50) in aSLE. A positive family history of SLE was seen in 37% (11/30) of cSLE patients compared to 11% (7/65) of aSLE [p = 0.003]. There was no difference in family history of other autoimmune rheumatic diseases (10% vs 14% [p = 0.57]). Table 1 shows frequency of different autoantibodies, with anti-dsDNA and anti-cardiolipin antibodies significantly more frequent in the cSLE group [p = 0.017, p = 0.016 respectively]. Lupus nephritis appears to be more common in cSLE but not significantly (80% renal involvement vs 69% aSLE).There was no difference between involvement of chest, haematological, VTE or APS. Standard of care treatment was used in both groups, including oral prednisolone (>80% patients), anti-malarial and immunosuppressive medications. Renal flares were significantly more frequent in cSLE (23% vs 8%, [p = 0.027]). Of those deceased, only 1 was directly due to SLE. P161 Table 1:Serological markercSLE (n = 30)aSLE (n = 65)Number of patients%Number of patients%ANA2790%6498%dsDNA23*77%33*51%ENA1447%3655%RNP827%2335%Anti-Ro1033%2132%Anti-Sm827%1218%C1Q14**64%19**63%ACL17*57%20*31%LAC930%1828%RF517%69%Comparison of serological markers.*p < 0.05 (Chi-square used).**10 patients’ data missing. Conclusion  More cSLE patients had a positive SLE family history and had higher anti-dsDNA antibody positivity compared to aSLE. Renal involvement was observed more commonly in cSLE than aSLE patients but was not statistically significant. Our results suggest that the cSLE cohort have a higher prevalence of specific lupus serology and a positive family history of SLE which may point towards more aggressive disease. Disclosure  N.T. Morton: None. Z. Rutter-Locher: None. M. Durrani: None. S. Sangle: None. N. Wilkinson: None. D. D'Cruz: None.

scholarly journals Early Disease Onset and Arthritis Are Predictors of Chronic Kidney Disease Development in FMF Patients

2021 ◽  
Author(s):  
Refika Büberci ◽  
Murat Duranay
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Laboratory Data ◽  
Disease Onset ◽  
Test Group ◽  
Early Disease ◽  
Inflammatory Parameters ◽  
Number Of Patients ◽  
Mediterranean Fever

Abstract Background: Familial Mediterranean fever (FMF) is an autosomal recessive genetic disease characterized by fever and serositis attacks. The most important complication is amyloidosis. In FMF patients, chronic kidney disease (CKD) can develop without amyloid development. The aim of the study is to evaluate the development of CKD in FMF patients and to determine the factors that are involved in this development.Method: One hundred seventy eight FMF patients who were followed up between 2000 and 2020 were included in the study. FMF diagnosis was made according to the Tel-Hashomer criteria. Genetic tests were studied in cases which there was suspicion of diagnosis. Clinical and demographic characteristics of patients and all laboratory data including urea, creatinine, estimated glomerular filtration rate (eGFR), and proteinuria in 24-hour urine at the time of first and last admission were evaluated.Results: The mean age of the patients was 34.53 ± 10.72, the follow-up period was 6.12 ± 3.94, and the diagnosis age was 21.7 ± 11.5 years. The number of patients with late disease onset and the percentage of kidney biopsy performed were higher in the genetic test group. There was no difference in the inflammatory parameters. The risk factors associated with the development of CKD were early disease onset and arthritis attacks.Conclusion: The role of genotype characteristics in the development of CKD has not been determined. Patients diagnosed with FMF disease at an early age and especially with arthritis attacks should be closely monitored in terms of the risk of developing CKD.

scholarly journals Genetic Insights into Early-onset Parkinson's Disease

2010 ◽  
Vol 5 (1) ◽  
pp. 30
Author(s):  
Roy N Alcalay ◽  
Cheryl Waters ◽  
◽  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
Genetic Risk ◽  
Early Onset ◽  
Late Onset ◽  
Positive Family History ◽  
Disease Onset ◽  
Strong Family History ◽  
Early Onset Parkinson’S Disease

Early-onset Parkinson's disease (EOPD) is defined as disease onset before 40 or 50 years of age. The clinical characteristics of EOPD are very similar to those of late-onset PD, but dystonia is more often a presenting symptom, dementia is rare and disease progression may be slower. Mutations in several genes have been described in cases with EOPD, often with strong family history, including mutations in α-synuclein (SNCA),DJ-1,PTEN-induced kinase-1 (PINK-1) andATP13A2. However, the most common mutations identified in EOPD are in Parkin (PRKN), leucinerich repeat kinase 2 (LRRK2) and glucocerebrosidase (GBA). With the exception ofSNCAandATP13A2carriers, mutation carriers are often indistinguishable from non-carriers. Large series of EOPD cases that are not ascertained by family history estimate mutation frequency at 4–16%. Given that the frequency of positive family history is much higher, we believe that many genetic risk factors are yet to be discovered.

649: Prostate Cancer Screening in Persons with a Positive Family History

2004 ◽  
Vol 171 (4S) ◽  
pp. 172-173
Author(s):  
Kathleen Herkommer ◽  
Juergen E. Gschwend ◽  
Martina Kron ◽  
Richard E. Hautmann ◽  
Thomas Paiss
Keyword(s):  
Prostate Cancer ◽  
Cancer Screening ◽  
Family History ◽  
Prostate Cancer Screening ◽  
Positive Family History

Should I prefer chest pain over leg pain?

VASA ◽  
2012 ◽  
Vol 41 (2) ◽  
pp. 75-77
Author(s):  
Minar
Keyword(s):  
Chest Pain ◽  
Leg Pain

scholarly journals The association between diabetes and thyroid cancer risk: a hospital-based case-control study in China

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Meng Wang ◽  
Wei-Wei Gong ◽  
Feng Lu ◽  
Ru-Ying Hu ◽  
Qing-Fang He ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Family History ◽  
Case Control Study ◽  
Positive Family History ◽  
Case Control ◽  
Diabetes Duration ◽  
Family History Of Diabetes ◽  
Thyroid Cancer Risk ◽  
History Of ◽  
Control Study

Abstract Background Previous studies have indicated inconsistent relationships of diabetes with thyroid cancer risk, yet little is known in China. In this study, we aimed to investigate the associations between diabetes, diabetes duration and the risk of thyroid cancer in Chinese population. Methods A 1:1 matched case-control study was performed between 2015 and 2017 in Zhejiang Province including 2,937 thyroid cancer cases and 2,937 healthy controls. Odds ratios (ORs) with 95 % confidence intervals (CIs) for thyroid cancer were estimated in logistic regression models. Specific effects stratified by age, as well as sex, body mass index (BMI) and family history of diabetes were also examined. Results Overall, neither diabetes (OR = 0.75, 95 % CI: 0.21–2.73) nor diabetes duration (OR = 0.14, 95 % CI: 0.02–1.22 for diabetes duration ≦ 5 years; OR = 2.10, 95 % CI: 0.32–13.94 for diabetes duration > 5 years) was significantly associated with thyroid cancer. In stratified analyses, significant lower risk of thyroid cancer was observed among subjects with diabetes and shorter diabetes duration ( ≦ 5 years), but limited to those who were aged more than 40 years, female, overweight/obese and had positive family history of diabetes. Conclusions Diabetes and shorter diabetes duration were significantly associated with decreased risk of thyroid cancer in individuals characterized by older age, female sex, higher BMI and positive family history of diabetes.

scholarly journals AB1065 VISIT COMPLIANCE IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER: RESULTS FROM A GAZI UNIVERSITY FMF COHORT

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1822.1-1822
Author(s):  
R. Bilici Salman ◽  
A. Avanoğlu Güler ◽  
H. Satiş ◽  
H. Karadeniz ◽  
H. Babaoglu ◽  
...  
Keyword(s):  
Logistic Regression ◽  
Family History ◽  
Familial Mediterranean Fever ◽  
Predictive Factors ◽  
Severity Score ◽  
Comorbid Disease ◽  
Rheumatology Clinic ◽  
Mediterranean Fever ◽  
One Year

Background:Follow-up in all rheumatologic patients is critical, particularly Familial Mediterranean Fever (FMF). Current recommendations for all experts by the EULAR state that patients with FMF should be evaluated 6-monthly intervals to monitore the character and frequency of the attacks and the acute phase response. Disease-related complications such as amyloidosis can beasymptomaticand need only a careful follow-up.Objectives:to quantify this phenomenon and to find predictive factors of visit compliance in patients with FMF.Methods:The study included 474 adult patients with a diagnosis of FMF who followed at the outpatient rheumatology clinic of tertiary university hospital, from January 2018 to December 2018. . Demographic, socioeconomic data, familiy history, comorbid disease, medication history, characteristics, the International Severity Score for FMF (ISSF),autoinflammatory disease damage index (ADDI) were recorded. Visit compliance was defined as the presence of two visits in the outpatient rheumatology clinic for FMF last one year for the purposes set out in EULAR suggestion.Those who had fewer than two visits in the last one year were considered noncompliant.Results:230 (48.5%) were compliant while 244 (51.5 %) patients were noncompliant with their rheumatology visit. Both compliant and noncompliant patients had similar median age and disease duration. Female sex and being married was increased the visit compliance.The results of the logistic regression model exploring factors associated with compliance indicated that presence of family history in parents, absence of family history in sibling, treatment with biologic agents, other drug using,presence of more than 2 attacks except fever and adequate medical care were important predictors of visit compliance.Conclusion:In conclusion, if FMF patients visit compliance increase, their functionality, medication adherence and quality of life will increase and flares and complication of disease can decrease. Thus, we highlight some recommendations for FMF specialist, patients and health care providers to improve outcomes.Table 2.Multivariate logistic regression analysis for predictive factors of visit compliance of the patients with FMF, n=430Adj. OR%95 CI**pFamily history in parents(positive history vs negative)1,81,0-3,10.03Family history in sibling(negative history vs positive)1,91,2-3,10.004Comorbid disease status1,30,7-2,50.32Treatment(anakinra&canakinumab vs colchicine)3,71,7-8,20.001Drug using(other drugs vs FMF drugs)2,21,1-4,40.01More than 2 attacks except fever2,31,2-4,00.004Chronic peripheral arthritis2,30,8-6,60.10Proteinuria2,20,7-6,70.14Adequate medical care1,91,2-3,10.003Number of index flare within last 12-month0,90,9-1,00.38ISSF severity score0,80,7-1,10,30Disclosure of Interests:None declared

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