Food protein-induced enterocolitis syndrome in the British Isles

BackgroundFood protein-induced enterocolitis syndrome (FPIES) is a delayed type of food allergy, most often seen in infancy. We aimed to estimate its incidence, to describe common food triggers and the patient journeys of this rare but serious condition.DesignWe undertook a prospective epidemiological survey of FPIES using the British Paediatric Surveillance Unit.SettingUK and Ireland.ParticipantsA survey of all paediatricians over 13 months between January 2019 and February 2020.Main outcome measures204 cases were reported, 98 (48%) meeting case definition, giving an incidence of 0.006% for England based on 93 cases.Results98 patients reported 135 trigger foods, 27% (26 of 98) had multiple food triggers. Common food triggers included cow’s milk (24%, 33 of 135), fruits and vegetables (19%, 26 of 135), hen’s egg (16%, 22 of 135) and fish (14%, 19 of 135). In 46% (41 of 90), the initial trigger food had been ingested three or more times before diagnosis, with a median diagnostic delay of 7.9 months (3.0, 17.3). Half (50 of 98) were admitted, yet only 5% (5 of 98) received appropriate acute treatment with ondansetron. Most cases were diagnosed by an allergy specialist (74 of 98, 76%), within a median of 7.5 (3.0, 13.3) miles from home.ConclusionThe incidence of FPIES was significantly lower than expected across the whole of the British Isles. Most reports were of cases local to specialist allergy centres, with delays in diagnosis. This suggests under-recognition of FPIES in frontline clinical setting where education of healthcare professionals is required to improve recognition, earlier diagnosis and treatment.

Download Full-text

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

Clinical Rheumatology ◽

10.1007/s10067-020-05558-7 ◽

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.

Download Full-text

‘Unpacking’ pathways to lymphoma and myeloma diagnosis: Do experiences align with the Model of Pathways to Treatment? Findings from a UK qualitative study with patients and relatives

BMJ Open ◽

10.1136/bmjopen-2019-034244 ◽

2020 ◽

Vol 10 (2) ◽

pp. e034244

Author(s):

Debra Howell ◽

Ruth Hart ◽

Alexandra Smith ◽

Una Macleod ◽

Russell Patmore ◽

...

Keyword(s):

Qualitative Study ◽

Information Seeking ◽

Help Seeking ◽

Healthcare Professionals ◽

Diagnostic Delay ◽

Population Based ◽

Qualitative Description ◽

Linear Sequence ◽

Time To Diagnosis ◽

The Impact

ObjectivesTo explore alignment of experiences before lymphoma and myeloma diagnosis with the appraisal, help seeking and diagnostic intervals in the Model of Pathways to Treatment (MPT).DesignA qualitative study using in-depth semistructured interviews with patients and relatives. Interviews were transcribed verbatim, anonymised and analysed using qualitative description.SettingA UK population-based haematological malignancy patient cohort.ParticipantsFifty-five patients (35 lymphoma, 20 myeloma: diagnosed 2014–2016) and 28 relatives participated, within around a year of the patient’s diagnosis. Patients were selected from those in the cohort who had returned a questionnaire about their symptoms and help seeking, and consented to contact for further research. Sampling was purposive, to achieve maximum variation in age, sex and time to diagnosis.ResultsParticipants described time from symptom onset to diagnosis as ranging from several weeks to years. Pathways largely aligned with MPT components and help seeking could lead to the rapid investigations and identification of abnormalities. However, symptoms could be vague and/or inadvertently interpreted as other conditions, which if perpetuated, could cause diagnostic delay. The latter was associated with chaotic pathways, with activities rarely occurring only once or in a linear sequence. Rather, intermittent or ongoing processes were described, moving forward and backwards through intervals. This is ‘unpacked’ within five themes: (1) appraisal and reappraisal; (2) patient-initiated self-management/treatment; (3) initial help seeking; (4) re-presentation; and (5) patient-initiated actions, decisions and emotions during re-presentation. Within these themes, various healthcare professionals were consulted, often many times, as symptoms persisted/progressed. Input from family/friends was described as substantial, as was the extent to which information seeking occurred.ConclusionLymphoma and myeloma pathways align with the MPT, but do not fully capture the repetition and complexity described by participants. Time to diagnosis was often prolonged, despite the best efforts of patients, relatives and healthcare professionals. The impact of National Health Service England’s Multi-diagnostic Disciplinary Centres on time to haematological cancer diagnosis remains to be seen.

Download Full-text

Review of recommendations for emergency medical teams during the SARS-CoV-2 epidemic

Emergency Medical Service ◽

10.36740/emems202004111 ◽

2020 ◽

Vol 7 (4) ◽

pp. 313-318

Author(s):

Przemysław Kożan ◽

Daniel Ślęzak ◽

Rafał Szczepański ◽

Marlena Robakowska ◽

Piotr Robakowski ◽

...

Keyword(s):

Healthcare Professionals ◽

Emergency Services ◽

National Level ◽

Case Definition ◽

Protective Equipment ◽

Emergency Medical ◽

Management Schemes ◽

Medical Teams ◽

New Procedures

The aim of this work was to present the recommendations for emergency medical teams in Poland during the SARSCoV-2 epidemic. During the epidemic of the new coronavirus, health care system in the world faced the need to deal with the effects of the virus. The medical staff’s behavior has been adapted to the new reality in order to help patient best and prevent the staff from becoming infected. The result of these activities was the creation of new procedures and recommendations. Due to the huge role of pre-hospital care, it has become necessary to create procedures at the national level so that the way of dealing with an infected patient is the same. With the growing knowledge of the virus, the case definition has changed and the Ministry of Health has updated its recommendations. Emergency medical teams and air emergency services have adapted to the changes imposed by the Minister of Health. The global problem of the SARS-CoV-2 is still a challenge for healthcare systems in Poland and worldwide. It will be necessary to update previously developed guidelines and management schemes, with particular emphasis on emergency medical services. The priority is to secure a sufficient amount of personal protective equipment, disinfectants and to create such procedures that will protect the system during the next crisis. It is important that healthcare professionals adopt a universal set of guidelines that they should follow to minimize SARS-CoV-2 infection.

Download Full-text

Potential of host serum protein biosignatures in the diagnosis of tuberculous meningitis in children

10.1101/670323 ◽

2019 ◽

Author(s):

Charles M Manyelo ◽

Regan S Solomons ◽

Candice I Snyders ◽

Kim Stanley ◽

Gerhard Walzl ◽

...

Keyword(s):

Serum Protein ◽

Tuberculous Meningitis ◽

Diagnostic Delay ◽

Final Diagnosis ◽

Tertiary Hospital ◽

Severe Form ◽

Case Definition ◽

High Morbidity ◽

Serum Samples ◽

Improved Performance

AbstractBackgroundTuberculous meningitis (TBM) is the most severe form of tuberculosis and results in high morbidity and mortality in children. Diagnostic delay contributes to the poor outcome. There is an urgent need for new tools for the rapid diagnosis of TBM, especially in children.MethodsWe collected serum samples from children in whom TBM was suspected at a tertiary hospital in Cape Town, South Africa. Children were subsequently classified as having TBM or no TBM using a published uniform research case-definition. Using a multiplex cytokine array platform, we investigated the concentrations of serum biomarkers comprising 7-markers that were previously found to be of value in the diagnosis of adult pulmonary TB (CRP, SAA, CFH, IFN-γ, IP-10, Apo-AI and transthyretin) plus other potentially useful host biomarkers as diagnostic candidates for TBM.FindingsOf 47 children included in the study, 23 (48.9%) had a final diagnosis of TBM of which six had HIV co-infection. A modified version of the adult 7-marker biosignature in which transthyretin was replaced by NCAM1, diagnosed TBM in children with AUC of 0.80 (95% CI, 0.67-0.92), sensitivity of 73.9% (95% CI, 51.6-89.8%) and specificity of 66.7% (95% CI, 44.7-84.4%). A new childhood TBM specific 3-marker biosignature (adipsin, Aβ42 and IL-10) showed potential in the diagnosis of TBM, with AUC of 0.84 (95% CI, 0.73-0.96), sensitivity of 82.6% (95 CI, 61.2-95.0%) and specificity of 75.0% (95% CI, 53.3-90.2%) after leave-one-out cross validation.ConclusionAn adult 7-marker serum protein biosignature showed potential in the diagnosis of TBM in children. However, a smaller childhood TBM-specific biosignature demonstrated improved performance characteristics. Our data indicates that blood-based biomarkers may be useful in the diagnosis of childhood TBM and require further investigation.

Download Full-text

Current Status of Genetic Counselling for Rare Diseases in Spain

Diagnostics ◽

10.3390/diagnostics11122320 ◽

2021 ◽

Vol 11 (12) ◽

pp. 2320

Author(s):

Sara Álvaro-Sánchez ◽

Irene Abreu-Rodríguez ◽

Anna Abulí ◽

Clara Serra-Juhe ◽

Maria del Carmen Garrido-Navas

Keyword(s):

Genetic Counselling ◽

Rare Diseases ◽

Healthcare Professionals ◽

Unmet Needs ◽

National Level ◽

Diagnostic Delay ◽

Developed Countries ◽

Current Status ◽

Psychosocial Issues ◽

Knowledge Uncertainty

Genetic Counselling is essential for providing personalised information and support to patients with Rare Diseases (RD). Unlike most other developed countries, Spain does not recognize geneticists or genetic counsellors as healthcare professionals Thus, patients with RD face not only challenges associated with their own disease but also deal with lack of knowledge, uncertainty, and other psychosocial issues arising as a consequence of diagnostic delay. In this review, we highlight the importance of genetic counsellors in the field of RD as well as evaluate the current situation in which rare disease patients receive genetic services in Spain. We describe the main units and strategies at the national level assisting patients with RD and we conclude with a series of future perspectives and unmet needs that Spain should overcome to improve the management of patients with RD.

Download Full-text

Food protein–induced enterocolitis to hen’s egg

Journal of Allergy and Clinical Immunology ◽

10.1016/j.jaci.2011.07.011 ◽

2011 ◽

Vol 128 (6) ◽

pp. 1386-1388 ◽

Cited By ~ 24

Author(s):

Jean-Christoph Caubet ◽

Anna Nowak-Węgrzyn

Keyword(s):

Food Protein ◽

Hen’S Egg

Download Full-text

Phenotypes and natural history of food protein‐induced enterocolitis syndrome in the east Mediterranean region

Allergy and Asthma Proceedings ◽

10.2500/aap.2020.41.200078 ◽

2020 ◽

Vol 41 (6) ◽

pp. 420-427 ◽

Cited By ~ 1

Author(s):

Melike Ocak ◽

Ayşegül Akarsu ◽

Umit Murat Sahiner ◽

Ozge Soyer ◽

Bulent Enis Sekerel

Keyword(s):

Clinical Symptoms ◽

Emergency Department Visits ◽

Interquartile Range ◽

Cow’S Milk ◽

Food Protein ◽

Cow's Milk ◽

Hen’S Egg ◽

History Of ◽

Ige Mediated ◽

East Mediterranean Region

Background: Food protein‐induced enterocolitis syndrome (FPIES) is a rare non-IgE mediated food allergy. Objective: To delineate the differences in the spectrum of culprit foods, remission patterns, and predictors among varying cultures. Methods: We reviewed demographics, culprit foods, outcomes, and predictors in 81 children with a diagnosis of FPIES who were followed up between 2015 and 2020. Results: Eighty-one patients (55.6% boys) were enrolled, including 72 with acute FPIES and 9 with chronic FPIES. Hen’s egg was the most common culprit food (36.6%), followed by fish (26.9%), and cow’s milk (21.5%). Interestingly, cow’s milk was significantly prevalent in chronic FPIES cases (p = 0.006). The most common clinical symptoms were vomiting (100%), pallor (63.4%), and lethargy (55.9%). Emergency department visits were noted in 39 patients (41.9%), of whom 37 (39.8%) were treated with intravenous (IV) fluid. The subjects were followed up for a median (interquartile range) of 19.4 months (12.3‐41.2 months), and 26 subjects (32.1%) achieved tolerance. The median (interquartile range) age at tolerance was 2.5 years (2.1‐3.2 years). With regard to the culprit foods, hen’s egg was observed more frequently in the subjects with resolved FPIES cases (p = 0.008), whereas fish FPIES cases were high in the persistent group (p = 0.001). IgE sensitization of the culprit food was found to be an independent risk factor for the persistence of FPIES (odds ratio 4.855 [95% confidence interval, 1.131‐20.844]; p = 0.034). Conclusion: In our cohort, unlike other published series, hen’s egg and fish were the two most common culprit foods. Fish differed from other culprit foods, with significantly delayed onset and persistence, and may create a model that allows for the understanding of the disease.

Download Full-text

Detection and Quantification of Allergens in Foods and Minimum Eliciting Doses in Food-Allergic Individuals (ThRAll)

Journal of AOAC International ◽

10.1093/jaoac/102.5.1346 ◽

2019 ◽

Vol 102 (5) ◽

pp. 1346-1353 ◽

Cited By ~ 2

Author(s):

E N Clare Mills ◽

Karine Adel-Patient ◽

Hervé Bernard ◽

Marc De Loose ◽

Nathalie Gillard ◽

...

Keyword(s):

Reference Method ◽

Quality Data ◽

Food Protein ◽

Processed Food ◽

Hen’S Egg ◽

Data Gaps ◽

Food Matrices ◽

Food Challenges ◽

Analytical Tools ◽

Good Quality Data

Abstract Risk-based approaches to managing allergens in foods are being developed by the food industry and regulatory authorities to support food-allergic consumers to avoid ingestion of their problem food, especially in relation to the traces of unintended allergens. The application of such approaches requires access to good quality data from clinical studies to support identification of levels of allergens in foods that are generally safe for most food-allergic consumers as well as analytical tools that are able to quantify allergenic food protein. The ThRAll project aims to support the application of risk-based approaches to food-allergen management in two ways. First, a harmonized quantitative MS-based prototype reference method will be developed for the detection of multiple food allergens in standardized incurred food matrices. This will be undertaken for cow’s milk, hen’s egg, peanut, soybean, hazelnut, and almond incurred into two highly processed food matrices, chocolate and broth powder. This activity is complemented by a second objective to support the development and curation of data on oral food challenges, which are used to define thresholds and minimum eliciting doses. This will be achieved through the development of common protocols for collection and curation of data that will be applied to allergenic foods for which there are currently data gaps.

Download Full-text

Patient perceptions of misdiagnosis of endometriosis: results from an online national survey

Diagnosis ◽

10.1515/dx-2019-0020 ◽

2020 ◽

Vol 7 (2) ◽

pp. 97-106

Author(s):

Allyson C. Bontempo ◽

Lisa Mikesell

Keyword(s):

Mental Health ◽

Physical Health ◽

Online Survey ◽

Healthcare Professionals ◽

Diagnostic Delay ◽

Diagnostic Error ◽

Onset Age ◽

Psychosocial Dysfunction ◽

Patient Reported ◽

Oriented Approach

AbstractBackgroundEndometriosis is an estrogen-dependent disease affecting 10% of females in which endometrial-like tissue grows outside the uterus, resulting in pain, infertility, and physical and psychosocial dysfunction. Prior research documenting diagnostic error reports a 6.7-year mean diagnostic delay. This study takes a patient-oriented approach and aims to complement prior research on diagnostic error by examining patient-reported experiences with misdiagnosis.MethodsData were part of a larger online survey comprising nonrandomly sampled patients with self-reported surgically confirmed endometriosis (n = 758). We examined patients’ reports of misdiagnosis, to which healthcare professionals (HCPs) they attributed misdiagnosis, mean diagnostic delay, and endometriosis symptoms and physical sites predicting misdiagnosis reports.ResultsMean reported diagnostic delay was 8.6 years. 75.2% of patients reported being misdiagnosed with another physical health (95.1%) and/or mental health problem (49.5%) and most frequently by gynecologists (53.2%) followed by general practitioners (34.4%). Higher odds of reporting a physical or mental health misdiagnosis was associated with reports of virtually all symptoms and endometriosis on the bladder, small bowel, pelvic sidewall, and rectum. Higher odds of reporting a physical health misdiagnosis was exclusively associated with reports of endometriosis on the appendix. Higher odds of reporting a mental health misdiagnosis was exclusively associated with reports of a younger symptom onset age; endometriosis on the diaphragm, large bowel, lung, and ureter; and comorbid adenomyosis diagnosis.ConclusionsEndometriosis continues to present serious and complex diagnostic challenges. These findings corroborate previous objective investigations documenting endometriosis diagnostic error, establish the first patient-reported incidence, and further demonstrate value in including patients in diagnostic error research.

Download Full-text

Avoiding delays in diagnosis: the importance of proactive liaison and education of staff in the general hospital

Advances in Mental Health and Intellectual Disabilities ◽

10.1108/amhid-04-2014-0012 ◽

2014 ◽

Vol 8 (6) ◽

pp. 399-402 ◽

Cited By ~ 5

Author(s):

Anna Walder ◽

Robert Green ◽

Sujata Soni

Keyword(s):

Intellectual Disabilities ◽

Learning Disability ◽

General Hospital ◽

Design Methodology ◽

Healthcare Professionals ◽

Mental Health Problems ◽

Subsequent Treatment ◽

Content Type ◽

People With Intellectual Disabilities ◽

Delays In Diagnosis

Purpose – The purpose of this paper is to illustrate the difficulties patients with intellectual disabilities face when they present to a general hospital with ambiguous symptoms and highlights the importance of adequate training for general staff in caring for people with learning disabilities. Design/methodology/approach – The authors describe the pathway of a person with a learning disability and mental health problems from A&E, through a general hospital, to discharge and the problems encountered in terms of diagnostic clarity and subsequent treatment. Findings – Delay in recognising a psychiatric cause for his symptoms and wrongly attributing his symptoms to his learning disability may have led to a protracted admission and invasive tests. Originality/value – Education of healthcare professionals and proactive liaison work can help improve outcomes for people with intellectual disabilities when they are admitted to generic services.

Download Full-text