scholarly journals AB0806 THE JOURNEY OF AXIAL SPONDYLOARTHRITIS IN SPAIN: FROM THE GENERAL PRACTITIONER TO THE RHEUMATOLOGIST

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1427.2-1427
Author(s):  
E. Flores-Fernández ◽  
C. Valera-Ribera ◽  
I. Vázquez-Gómez ◽  
A. V. Orenes Vera ◽  
E. Valls-Pascual ◽  
...  
Keyword(s):  
General Practitioner ◽  
Average Cost ◽  
Axial Spondyloarthritis ◽  
Diagnostic Delay ◽  
Final Diagnosis ◽  
Direct Costs ◽  
Interquartile Range ◽  
Extra Cost ◽  
Diagnosis And Treatment ◽  
Median Cost

Background:The delay in the diagnosis of axial spondyloarthropathies (AxSp), with the morbidity and economic burden that this entails, is well known1,2. According to the 2017 Atlas of axial spondyloarthritis in Spain3, the mean diagnostic delay was 8,5 years, with an average total cost per patient of 659,8€ including medical consultations and complementary tests until diagnosis. However, nowadays there are still many patients who are incorrectly referred from the general practitioner (GP) despite showing typical features of AxSp.Objectives:To describe the AxSp journey until diagnosis and treatment. To analyze additional costs of either a wrong or a delayed referral of the patients with AxSp to rheumatologists.Methods:Type of study: observational, retrospective, descriptive. We included all the patients who were referred to our Department of Rheumatology from Jan-2019 to Dec-2020 and whose final diagnosis was AxSp. All the data since the first contact to the GP until the final diagnosis and initiation of treatment in Rheumatology were collected, including consultations to our emergency department (EmD) and other specialists. The number of consultations, complementary tests (analytical and imaging), as well as the direct costs of all of them were also collected4. A descriptive and associative analysis of these data was carried out using the SPSS software. We used median and interquartile range (IQR) for descriptive analysis and a significant p value < 0,05.Results:From Jan-2019 to Dec-2020, 15 patients with AxSp and a median age of 43 (Interquartile range (IQR) 34-51) years were diagnosed, 10 women and 5 men. The main reason for referral was inflammatory low back pain (66.7%). The 60% of the patients were referred from the GP, followed by the EmD (20%). Despite typical symptoms, 4 patients (26,7%) were initially referred to Traumatology, and 3 out of them returned to the GP without the right diagnosis.The median delay for referral from the GP to the rheumatologist was 47 (IQR 20-173) days. A wrong referral of the patient was associated with a delayed diagnosis (p 0, 018) and higher direct costs of management (p 0, 018). The average cost (including medical consultation and complementary tests) of the patient referred directly to Rheumatology was 267,71 (IQR 193,7-462,3) €, while the average cost of patients referred to other specialists was 578,83 (IQR 368,32-898,7) €. The extra cost of a wrong referral of a patient with AxSp was 311€ on average per patient in our sample (Table 1).Table 1.Women/men10/5Median age (years; IQR)43; 34-51Median diagnostic delay (days; IQR)45; 20-173Median cost of patient referred initially to Rheumatology (€; IQR)267,71; 193,7-462,3Median cost of patient referred initially to another specialist (€; IQR)578,83; 368,32-898,7Extra cost of wrong referral per patient(€)311Conclusion:AxSp is still a disease with a not negligible diagnostic delay, but it seems to be lower than previously reported. A wrong referral of the patient to other specialists, mainly Traumatology, is associated with this delay and can double the cost of managing these patients. This demonstrates the still unmet need of improving the management and referral of the patients with AxSp from the GP to the rheumatologist, ensuring an early diagnosis and treatment at the lowest cost for the system. Our study has limitations due to its small sample size, but preliminary results indicate that a larger-scale study would be necessary to correctly assess the magnitude of this problem.References:[1]Fernández Carballido C. Diagnosing early spondyloarthritis in Spain: the ESPeranza program. Reumatol Clin. 2010;6(SUPPL. 1):6-10[2]Muñoz-Fernández S et al. A model for the development and implementation of a national plan for the optimal management of early spondyloarthritis: The Esperanza Program. Ann Rheum Dis. 2011;70(5):827-830[3]Garrido Cumbrera M et al. Atlas de Espondilartritis Axial En España 2017. Vol 45.; 2017.[4]Generalitat Valenciana. LEY 20/2017, de 28 de diciembre, de la Generalitat, de tasas. [2017/12159]:96-222.Acknowledgements:We would like to thank Novartis for its support.Disclosure of Interests:None declared

scholarly journals Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Carlo Fusco ◽  
◽  
Vincenzo Leuzzi ◽  
Pasquale Striano ◽  
Roberta Battini ◽  
...  
Keyword(s):  
Amino Acid ◽  
Diagnostic Delay ◽  
Steering Committee ◽  
Outcome Data ◽  
Diagnosis And Treatment ◽  
Acid Decarboxylase ◽  
Delphi Consensus ◽  
Amino Acid Decarboxylase ◽  
Modified Delphi ◽  
Number Of Patients

Abstract Background Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare and underdiagnosed neurometabolic disorder resulting in a complex neurological and non-neurological phenotype, posing diagnostic challenges resulting in diagnostic delay. Due to the low number of patients, gathering high-quality scientific evidence on diagnosis and treatment is difficult. Additionally, based on the estimated prevalence, the number of undiagnosed patients is likely to be high. Methods Italian experts in AADC deficiency formed a steering committee to engage clinicians in a modified Delphi consensus to promote discussion, and support research, dissemination and awareness on this disorder. Five experts in the field elaborated six main topics, each subdivided into 4 statements and invited 13 clinicians to give their anonymous feedback. Results 100% of the statements were answered and a consensus was reached at the first round. This enabled the steering committee to acknowledge high rates of agreement between experts on clinical presentation, phenotypes, diagnostic work-up and treatment strategies. A research gap was identified in the lack of standardized cognitive and motor outcome data. The need for setting up an Italian working group and a patients’ association, together with the dissemination of knowledge inside and outside scientific societies in multiple medical disciplines were recognized as critical lines of intervention. Conclusions The panel expressed consensus with high rates of agreement on a series of statements paving the way to disseminate clear messages concerning disease presentation, diagnosis and treatment and strategic interventions to disseminate knowledge at different levels. Future lines of research were also identified.

scholarly journals Gender differences in patient journey to diagnosis and disease outcomes: results from the European Map of Axial Spondyloarthritis (EMAS)

2021 ◽  
Author(s):  
Marco Garrido-Cumbrera ◽  
◽  
Denis Poddubnyy ◽  
Laure Gossec ◽  
Raj Mahapatra ◽  
...  
Keyword(s):  
Gender Differences ◽  
Psychological Distress ◽  
Disease Activity ◽  
Healthcare Professionals ◽  
Unmet Needs ◽  
Axial Spondyloarthritis ◽  
Diagnostic Delay ◽  
Hla B27 ◽  
Patient Journey ◽  
Disease Characteristics

Abstract Introduction/objectives To evaluate the journey to diagnosis, disease characteristics and burden of disease in male and female patients with axial spondyloarthritis (axSpA) across Europe. Method Data from 2846 unselected patients participating in the European Map of Axial Spondyloarthritis (EMAS) study through an online survey (2017–2018) across 13 countries were analysed. Sociodemographic characteristics, lifestyle, diagnosis, disease characteristics and patient-reported outcomes (PROs) [disease activity –BASDAI (0–10), spinal stiffness (3–12), functional limitations (0–54) and psychological distress (GHQ-12)] were compared between males and females using chi-square (for categorical variables) and student t (for continuous variables) tests. Results In total, 1100 (38.7%) males and 1746 (61.3%) females participated in the EMAS. Compared with males, females reported considerable longer diagnostic delay (6.1 ± 7.4 vs 8.2 ± 8.9 years; p < 0.001), higher number of visits to physiotherapists (34.5% vs 49.5%; p < 0.001) and to osteopaths (13.3% vs 24.4%; p < 0.001) before being diagnosed and lower frequency of HLA-B27 carriership (80.2% vs 66.7%; p < 0.001). In addition, females reported higher degree of disease activity in all BASDAI aspects and greater psychological distress through GHQ-12 (4.4 ± 4.2 vs 5.3 ± 4.1; p < 0.001), as well as a greater use of alternative therapies. Conclusion The patient journey to diagnosis of axSpA is much longer and arduous in females, which may be related to physician bias and lower frequency of HLA-B27 carriership. Regarding PROs, females experience higher disease activity and poorer psychological health compared with males. These results reflect specific unmet needs in females with axSpA needing particular attention. Key Points• Healthcare professionals’ perception of axSpA as a predominantly male disease may introduce some bias during the diagnosis and management of the disease. However, evidence about male-female differences in axSpA is scarce.• EMAS results highlight how female axSpA patients report longer diagnostic delay and higher burden of the disease in a large sample of 2846 participants of 13 European countries.• Results reflect unmet needs of European female patients. Healthcare professionals should pay close attention in order to accurately diagnose and efficiently manage axSpA cases while further research should be developed on the cause of reported gender differences.

scholarly journals POS0959 DIAGNOSTIC DELAY IN AXIAL SPONDYLOARTHRITIS: RESULTS FROM THE NATIONAL EARLY INFLAMMATORY ARTHRITIS AUDIT

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 744.1-744
Author(s):  
M. Russell ◽  
F. Coath ◽  
M. Yates ◽  
K. Bechman ◽  
S. Norton ◽  
...  
Keyword(s):  
Inflammatory Arthritis ◽  
Clinical Characteristics ◽  
Axial Spondyloarthritis ◽  
Diagnostic Delay ◽  
British Society ◽  
Standards Of Care ◽  
Symptom Duration ◽  
Research Support ◽  
England And Wales ◽  
Early Inflammatory Arthritis

Background:Diagnostic delay is a significant problem in axial spondyloarthritis (axSpA), and there is a growing body of evidence showing that delayed axSpA diagnosis is associated with worse clinical, humanistic and economic outcomes.1 International guidelines have been published to inform referral pathways and improve standards of care for patients with axSpA.2,3Objectives:To describe the sociodemographic and clinical characteristics of newly-referred patients with axSpA in England and Wales in the National Early Inflammatory Arthritis Audit (NEIAA), with rheumatoid arthritis (RA) and mechanical back pain (MBP) as comparators.Methods:The NEIAA captures data on all new patients over the age of 16 referred with suspected inflammatory arthritis to rheumatology departments in England and Wales.4 We describe baseline sociodemographic and clinical characteristics of axSpA patients (n=784) recruited to the NEIAA between May 2018 and March 2020, compared with RA (n=9,270) and MBP (n=370) during the same period.Results:Symptom duration prior to initial rheumatology assessment was significantly longer in axSpA than RA patients (p<0.001), and non-significantly longer in axSpA than MBP patients (p=0.062): 79.7% of axSpA patients had symptom durations of >6 months, compared to 33.7% of RA patients and 76.0% of MBP patients; 32.6% of axSpA patients had symptom durations of >5 years, compared to 3.5% of RA patients and 24.6% of MBP patients (Figure 1A). Following referral, median time to initial rheumatology assessment was longer for axSpA than RA patients (36 vs. 24 days; p<0.001), and similar to MBP patients (39 days; p=0.30). The proportion of axSpA patients assessed within 3 weeks of referral increased from 26.7% in May 2018 to 34.7% in March 2020; compared to an increase from 38.2% to 54.5% for RA patients (Figure 1B). A large majority of axSpA referrals originated from primary care (72.4%) or musculoskeletal triage services (14.1%), with relatively few referrals from gastroenterology (1.9%), ophthalmology (1.4%) or dermatology (0.4%).Of the subset of patients with peripheral arthritis requiring EIA pathway follow-up, fewer axSpA than RA patients had disease education provided (77.5% vs. 97.8%; p<0.001), and RA patients reported a better understanding of their condition (p<0.001). HAQ-DI scores were lower at baseline in axSpA EIA patients than RA EIA patients (0.8 vs 1.1, respectively; p=0.004), whereas baseline Musculoskeletal Health Questionnaire (MSK-HQ) scores were similar (25 vs. 24, respectively; p=0.49). The burden of disease was substantial across the 14 domains comprising MSK-HQ in both axSpA and RA (Figure 1C).Conclusion:We have shown that diagnostic delay remains a major challenge in axSpA, despite improved disease understanding and updated referral guidelines. Patient education is an unmet need in axSpA, highlighting the need for specialist clinics. MSK-HQ scores demonstrated that the functional impact of axSpA is no less than for RA, whereas HAQ-DI may underrepresent disability in axSpA.References:[1]Yi E, Ahuja A, Rajput T, George AT, Park Y. Clinical, economic, and humanistic burden associated with delayed diagnosis of axial spondyloarthritis: a systematic review. Rheumatol Ther. 2020;7:65-87.[2]NICE. Spondyloarthritis in over 16s: diagnosis and management. 2017.[3]van der Heijde D, Ramiro S, Landewe R, et al. 2016 update of the ASAS-EULAR management recommendations for axial spondyloarthritis. Ann Rheum Dis. 2017;76(6):978-91.[4]British Society for Rheumatology. National Early Inflammatory Arthritis Audit (NEIAA) Second Annual Report. 2021.Acknowledgements:The National Early Inflammatory Arthritis Audit is commissioned by the Healthcare Quality Improvement Partnership, funded by NHS England and Improvement, and the Welsh Government, and carried out by the British Society for Rheumatology, King’s College London and Net Solving.Disclosure of Interests:Mark Russell Grant/research support from: UCB, Pfizer, Fiona Coath: None declared, Mark Yates Grant/research support from: UCB, Abbvie, Katie Bechman: None declared, Sam Norton: None declared, James Galloway Grant/research support from: Abbvie, Celgene, Chugai, Gilead, Janssen, Lilly, Pfizer, Roche, UCB, Jo Ledingham: None declared, Raj Sengupta Grant/research support from: AbbVie, Biogen, Celgene, Lilly, MSD, Novartis, Pfizer, Roche, UCB, Karl Gaffney Grant/research support from: AbbVie, Biogen, Cellgene, Celltrion, Janssen, Lilly, Novartis, Pfizer, Roche, UCB.

Risikofaktoren für die Diagnoseverzögerung bei idiopathischer Lungenfibrose vermeiden

2019 ◽  
pp. III-IV
Author(s):  
Fotios Drakopanagiotakis ◽  
Andreas Günther
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Negative Binomial ◽  
Diagnostic Delay ◽  
Delayed Diagnosis ◽  
Final Diagnosis ◽  
Inhalation Therapy ◽  
Total Delay ◽  
Specific Patient ◽  
Male Sex

Background: Surveys and retrospective studies of patients with idiopathic pulmonary fibrosis (IPF) have shown a significant diagnostic delay. However, the causes and risk factors for this delay are not known. Methods: Dates at six time points before the IPF diagnosis (onset of symptoms, first contact to a general practitioner, first hospital contact, referral to an interstitial lung disease (ILD) centre, first visit at an ILD centre, and final diagnosis) were recorded in a multicentre cohort of 204 incident IPF patients. Based on these dates, the delay was divided into specific patient-related and healthcare-related delays. Demographic and clinical data were used to determine risk factors for a prolonged delay, using multivariate negative binomial regression analysis. Results: The median diagnostic delay was 2.1 years (IQR: 0.9-5.0), mainly attributable to the patients, general practitioners and community hospitals. Male sex was a risk factor for patient delay (IRR: 3.84, 95% CI: 1.17-11.36, p = 0.006) and old age was a risk factor for healthcare delay (IRR: 1.03, 95% CI: 1.01-1.06, p = 0.004). The total delay was prolonged in previous users of inhalation therapy (IRR: 1.99, 95% CI: 1.40-2.88, p < 0.0001) but not in patients with airway obstruction. Misdiagnosis of respiratory symptoms was reported by 41% of all patients. Conclusion: Despite increased awareness of IPF, the diagnostic delay is still 2.1 years. Male sex, older age and treatment attempts for alternative diagnoses are risk factors for a delayed diagnosis of IPF. Efforts to reduce the diagnostic delay should focus on these risk factors.

Distinguishing primary central nervous system lymphoma from other central nervous system diseases: a neurosurgical perspective on diagnostic dilemmas and approaches

2006 ◽  
Vol 21 (5) ◽  
pp. 1-7 ◽  
Author(s):  
Matthew A. Hunt ◽  
Kristoph Jahnke ◽  
Tulio P. Murillo ◽  
Edward A. Neuwelt
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Demyelinating Disease ◽  
Imaging Techniques ◽  
Tumor Resection ◽  
Delayed Diagnosis ◽  
Central Nervous System Lymphoma ◽  
Final Diagnosis ◽  
Diagnosis And Treatment ◽  
Initial Symptoms

Object White matter diseases, including demyelinating or inflammatory disorders, may be indistinguishable clinically and radiologically from some central nervous system (CNS) tumors. In such situations, determination of the final diagnosis is difficult. An example is the differential diagnosis of non-acquired immunodeficiency syndrome–related primary central nervous system lymphoma (PCNSL) and multiple sclerosis (MS), a demyelinating disease. Unfortunately, delayed diagnosis and treatment of PCNSL can negatively affect prognosis. Methods The authors reviewed the cases of eight patients with PCNSL or MS. In each case, the initial diagnosis (PCNSL or MS) was equivocal. In these cases, conventional diagnostic approaches were not definitive, thus further delaying diagnosis. The initial symptoms, the selected diagnostic tests, and the presumptive as well as final diagnosis for each case are discussed. The final diagnosis was PCNSL in six cases and MS in two. The uncertainty about the clinical or initial pathological presentation required further diagnostic evaluation in all cases. Two important neurosurgical guidelines are the avoidance of corticosteroid agents and performance of biopsy sampling rather than volumetric tumor resection. High-volume lumbar puncture, slit-lamp examination/vitrectomy, new CNS imaging techniques, and repeated biopsy procedures also proved helpful. Conclusions In PCNSL, early definitive diagnosis and treatment are the keys to successful outcomes. Knowledge of strategies essential to early diagnosis lessens the need for brain biopsy sampling, but this procedure is still usually necessary. In such selected cases, biopsy sampling is appropriate even when pathological investigation shows MS rather than PCNSL. Complete resection is not indicated in PCNSL and can lead to additional sequelae.

scholarly journals Tubercular otitis media: an under diagnosed entity

2016 ◽  
Vol 3 (1) ◽  
pp. 82 ◽  
Author(s):  
Abhishek Maheshwari ◽  
Rajlaxmi Panigrahi
Keyword(s):  
Otitis Media ◽  
Histopathological Examination ◽  
Diagnostic Delay ◽  
Chronic Otitis Media ◽  
Final Diagnosis ◽  
Clinical Findings ◽  
Mycobacterium Tuberculosis Infection ◽  
Mycobacterial Culture ◽  
Anti Tubercular Therapy ◽  
A Prospective Study

<p class="abstract"><strong>Background:</strong> Tubercular otitis media (TOM) is a well described rare entity in literature. Its characteristic diagnostic delay leads to severe irreversible complications. Diagnosis is much more difficult when it co-exists with aural cholesteatoma. Its Actual incidence is thought to be much more, than what is reported in literature. This study was carried out to establish TOM as an under diagnosed entity and to study its various presentations<span lang="EN-IN">. </span></p><p class="abstract"><strong>Methods:</strong> A prospective study was performed in 617 cases (both recurrence and new) of chronic otitis media who gave a fully informed consent, for being investigated for a probable diagnosis of TOM, based on history and clinical findings. Histopathological examination of the granulation tissue retrieved during biopsy/mastoid exploration surgery and mycobacterial culture of the aural discharge was performed in all cases. A final diagnosis was made with either of tests being reported as positive for mycobacterium tuberculosis infection. All confirmed cases were treated with a 6 month course of anti-tubercular therapy<span lang="EN-IN">.  </span></p><p class="abstract"><strong>Results:</strong> Diagnosis of TOM was confirmed in 12 cases. M:F ratio was 1:1.4. Cholesteatoma was found to co-exist in 4 cases (33.33%). A positive histopathology report was obtained in 11 cases (91.67%) while the mycobacterial culture yielded growth in 3 cases (25%) only. Canal wall down mastoidectomy was performed in 9 cases. In all cases, a follow-up with a 6 months course of anti-tubercular therapy gave satisfactory healing with no complications<span lang="EN-IN">. </span></p><p class="abstract"><strong>Conclusions:</strong> The incidence of TOM, a potentially dangerous entity is on a rise. Role of surgery is crucial in procuring tissue for histopathological and bacteriological examination.  It is a curable disease if diagnosed in time with early institution of anti-tubercular therapy<span lang="EN-IN">.</span></p>

Sign in / Sign up

Export Citation Format

Share Document