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Context Non-functioning pancreatic neuroendocrine tumours (NF-pNETs) are highly prevalent and constitute an important cause of mortality in patients with multiple endocrine neoplasia type 1 (MEN1). Still, the optimal age to initiate screening for pNETs is under debate. Objective To assess the age of occurrence of clinically relevant NF-pNETs in young MEN1 patients. Patients and setting Pancreatic imaging data of MEN1 patients were retrieved from the DutchMEN Study Group database. Design Interval-censored survival methods were used to describe age-related penetrance, compare survival curves, and develop a parametric model for estimating the risk of having clinically relevant NF-pNET at various ages. Intervention(s) Not applicable. Main outcome measure(s) The primary objective was to assess age at occurrence of clinically relevant NF-pNET (size ≥20 mm or rapid growth); secondary objectives were the age at occurrence of NF-pNET of any size and pNET-associated metastasized disease. Results Five of 350 patients developed clinically relevant NF-pNETs before age 18, two of which subsequently developed lymph node metastases. No differences in clinically relevant NF-pNET-free survival were found for sex, timeframe, and type of MEN1 diagnosis or genotype. The estimated ages (median, 95% CI) at a 1%, 2.5% and 5% risk of having developed a clinically relevant tumour are 9.5 (6.5 – 12.7), 13.5 (10.2 – 16.9) and 17.8 years (14.3 – 21.4) respectively. Conclusion Analyses from this population-based cohort indicate that start of surveillance for NF-pNETs with pancreatic imaging at age 13–14 is justified. The psychological and medical burden of screening at a young age should be considered.

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Targeted screening programs for individuals with an increased risk for cancer have become increasingly available. Patients with multiple endocrine neoplasia (MEN), rare genetic conditions associated with the development of tumors in the endocrine glands, undergo intensive surveillance from an early age. Quantitative research has shown that patients with MEN experience fear of disease occurrence in themselves and their family members. However, little is known about the role that intensive, lifelong screening plays in the lives of individuals. This study investigates the lived experiences of patients with MEN undergoing regular tumor screening through an interpretative phenomenological analysis of interviews with 12 patients with MEN1, MEN2A, or MEN2B syndrome. Four experiential group themes are identified: coming to the foreground/fading into the background, relating to uncertainty, experiencing control, and familial context. Screening is characterized as an ambiguous experience that brings MEN to the foreground and may both exacerbate MEN‐related uncertainty as well as provide a sense of control over the disease. The experience of undergoing screening is strongly influenced by the familial context, as participants care for and are cared for by family members and understand their disease through familial experiences. Good care according to patients with MEN includes providing family‐centered care, addressing the impact on daily functioning and the meaning of illness, support in the interpretation of physical complaints, facilitation of patient experiences of control, and careful attunement to patient needs within a good doctor–patient relationship.

Objectives This study aims to gain insight into the care provided to patients with antiphospholipid syndrome (APS) in The Netherlands, and to identify areas for improvement from the perspective of both patients and medical specialists. Methods APS care was evaluated using qualitative and quantitative methods. Perspectives on APS care were explored using semi-structured interviews with medical specialists, patient focus groups and a cross-sectional, online patient survey. In order to assess current practice, medical records were reviewed retrospectively to collect data on clinical and laboratory manifestations and pharmacological treatment in six Dutch hospitals. Results Fourteen medical specialists were interviewed, fourteen patients participated in the focus groups and 79 patients completed the survey. Medical records of 237 patients were reviewed. Medical record review showed that only one-third of patients were diagnosed with APS within three months after entering specialist care. Diagnostic approach and management varied between centres and specialists. Almost 10% of all patients and 7% of triple positive patients with thrombotic APS did not receive any anticoagulant treatment at the time of medical record review. Correspondingly, poor recognition and fragmentation of care were reported as the main problems by medical specialists. Additionally, patients reported the lack of accessible, reliable patient education, psychosocial support and trust in physicians as important points for improvement. Conclusion Delayed diagnosis, variability in management strategies and fragmentation of care were important identified limitations of APS care in this study. A remarkable 10% of patients did not receive any anticoagulant treatment.

Background Antiphospholipid Syndrome (APS) is a known cause of thrombotic disorders, including Acute Myocardial Infarction (AMI). Although its incidence in AMI patients is not known, it may be an important factor in precipitating infarction, especially in younger adults. Methods This is a case-control study consisting in 73 patients with Acute Myocardial Infarction, hospitalized at Cardiovascular Reanimation Clinic from 10 December 2015-10 October 2019. All patients included in the study were from 23 to 50 years old. In the case-group were included 24 patients with Antiphospholipid Syndrome and Acute Myocardial Infarction, and 49 patients were included in the control group, which consisted only in patients with AMI, with no presence of APS. In every patient were gathered data such as complete blood count + ESR, Antinuclear Antibodies (ANA), Anti-cardiolipin antibodies (ACA), C3 and C4 complement fraction, Anti-ds-DNA, CRP and Ejection Fraction (EF) in echocardiography. Female patients were asked about their abortion history. As recommended in the guidelines, in positive results for APS, ACA levels were repeated after 12 weeks in order to establish the diagnosis. All data were gathered and statistically analyzed using Excel 2010 and IBM SPSS. Results After comparing all gathered data, it was found that the patients with APS and AMI had a more significant tendency to have C3 hypocomplementemia (p=0.006), thrombocytopenia (p=0.002), a lower ejection fraction on transthoracic echocardiography (p=0.04) and a more elevated number of abortions before acute myocardial infarction (p=0.03) in comparison to the controls. Conclusions From our study it was found that APS is not rare in young adults with AMI. It should be always suspected in young patients with no cardiovascular risk factors and there may be a characteristic clinical and laboratory picture in patients with AMI, which may suggest the APS diagnosis. Acknowledgements The authors declare no conflict of interest.