Evaluación del manejo y seguimiento de los pacientes diabéticos en la prevención de la retinopatía diabética / Evaluation of the management and follow-up of diabetic patients in the prevention of diabetic retinopathy

Fundamentos: La diabetes mellitus es una enfermedad crónica con alta morbimortalidad que afecta a 537 millones de adultos en el mundo. España es el segundo país europeo en prevalencia, con un 14,8% en población de veinte-setenta y nueve años, con 11,6 casos por cada 1.000 personas/año. La retinopatía diabética (RD) es la quinta causa de pérdida de visión a nivel mundial y la séptima causa de ceguera/discapacidad visual entre afiliados a la Organización Nacional de Ciegos de España (ONCE). La detección precoz de RD previene la ceguera en diabéticos y está condicionada por la hemoglobina glicosilada. El objetivo de este trabajo fue analizar el manejo de los pacientes diabéticos en la comarca del Aljarafe (Sevilla) e identificar oportunidades de mejora en la coordinación de su seguimiento entre el médico de Atención Primaria y el médico oftalmólogo. Métodos: Se realizó un estudio observacional retrospectivo (2016-2019) con los pacientes registrados en el censo de diabéticos de los veintiocho municipios del Aljarafe. Se consultó la historia de salud de Atención Primaria y Hospital, así como el programa de Telemedicina. En cuanto al análisis estadístico, para variables cualitativas se calcularon totales y porcentajes; para variables cuantitativas, media y distribución estándar (si distribución normal), y la mediana y cuartiles (distribución no normal). Resultados: Se registraron 17.175 diabéticos en el Aljarafe (5,7% de población); 14.440 pacientes (84,1%) tenían alguna determinación de hemoglobina durante el periodo, 9.228 (63,9%) las tenían todas en rango adecuado. Tenían control fundoscópico 12.040 diabéticos (70,1%), y de los que no, 346 (10,6%) tenían todas fuera de rango. Hubo 1.878 (10,9%) pacientes sin control fundoscópico ni metabólico, 1.019 (54,3%) eran mujeres, 1.219 (64,9%) menores de sesenta y cinco años, 1.019 (54,3%) con comorbilidad grave...(AU)

Background: Diabetes mellitus is a chronic disease with high morbidity and mortality, affecting 537 million adults worldwide. Spain is the second European country in prevalence, with 14.8% in the population aged twenty/seventy-nine years; with 11.6 cases per 1,000 people/year. Diabetic retinopathy (DR) is the fifth cause of vision loss worldwide and the seventh cause of blindness/visual impairment among members of the National Organization of the Blind in Spain (ONCE). Early detection of DR prevents blindness in diabetics and is conditioned by glycosylated hemoglobin. The aim of this paper was to analyze the management of diabetic patients in Aljarafe region (Seville) and identify opportunities for improvement in the coordination of their follow-up between the Primary Care physician and the ophthalmologist. Methods: A retrospective observational study (2016-2019) was carried out, with patients registered in the diabetic census of the twenty-eight municipalities of Aljarafe. The primary care and hospital health history, and telemedicine program were consulted. About statistical analysis, for qualitative variables, totals and percentages were calculated; for quantitative variables, mean and standard devia-tion (if normally distributed) and median and quartiles (if non-normally distributed). RESULTS // There were 17,175 diabetics registered in Aljarafe (5.7% of the population); 14,440 patients (84.1%) had some determi-nation of hemoglobin during the period, 9,228 (63.9%) had all of them in the appropriate range. Fundoscopic control was performed on 12,040 diabetics (70.1%), and of those who did not, 346 (10.6%) had all of them out of range. There were 1,878 (10.9%) patients without fundoscopic or metabolic control, 1,019 (54.3%) were women, 1,219 (64.9%) were under sixty-five years of age, 1,019 (54.3%) had severe comorbidity...(AU)

Fat digestion and absorption: Normal physiology and pathophysiology of malabsorption, including diagnostic testing.

Fat digestion and absorption play crucial roles in maintaining energy homeostasis and supporting essential physiological functions. The initial stage of fat digestion occurs in the stomach, where gastric lipase begins the hydrolysis of triglycerides. However, most fat digestion takes place in the small intestine via pancreatic enzymes and bile salts. Emulsification of fat by bile acids facilitates enzymatic action, breaking down triglycerides into free fatty acids and monoglycerides, which are then able to be absorbed by enterocytes. Fat malabsorption can result from various underlying conditions, such as exocrine pancreatic insufficiency, bile acid disorders, or intestinal diseases. The clinical manifestations of fat malabsorption include steatorrhea, malnutrition, and deficiencies of fat-soluble vitamins. Diagnostic approaches involve assessing fecal fat levels, imaging studies, and various functional tests to identify the specific etiology. This review article will describe the normal physiologic process of fat digestion and absorption and discuss various pathophysiology that can lead to fat malabsorption within the gastrointestinal tract as well as their respective diagnostic testing modalities. Effective digestion of fat is essential for overall health, because it allows for absorption of many essential nutrients, plays an integral role in cellular and structural function, and supplies energy to the body. When this is dysfunctional, disorders of malabsorption can occur. This article will give a brief overview of the physiologic process of fat digestion and absorption in healthy individuals as well as review important pathophysiology that can lead to fat malabsorption within the gastrointestinal tract and current diagnostic testing modalities.

Síndrome de pinzamiento isquiofemoral: a propósito de una serie de 5 casos / Ischiofemoral impingement syndrome: A five-case series report

El dolor glúteo es un motivo frecuente de consulta médica en la práctica clínica diaria. Las causas son muy variadas, pudiendo encontrar entre aquellas que forman parte de su diagnóstico diferencial el síndrome de pinzamiento isquiofemoral. Este, incluido actualmente dentro de los síndromes de glúteo profundo, es consecuencia del atrapamiento de las estructuras neuromusculares englobadas entre el trocánter menor y la tuberosidad isquiática, lo que ocasiona un cuadro de dolor en la raíz del miembro inferior, con irradiación hacia el muslo o hacia la región glútea, y mala tolerancia a la deambulación y a la sedestación. La prueba diagnóstica fundamental es la resonancia magnética de cadera, y su manejo suele ser médico inicialmente. A pesar de no ser una entidad frecuente en las consultas de reumatología, tener esta patología en mente ayuda a mejorar su pronóstico, al poder ofrecer un tratamiento adecuado y precoz.(AU)

Gluteal pain is a frequent cause of medical attention in the daily clinical practice. It can be caused by multiple pathologies, being ischiofemoral impingement syndrome among those included in its differential diagnosis. Encompassed within the deep gluteal syndromes, this entity occurs as a consequence of the entrapment of the neuromuscular structures between the lesser femoral trochanter and the ischial tuberosity, causing pain in the root of the lower limb, with irradiation towards the thigh or the gluteal region and poor tolerance to deambulation and sedestation. The magnetic resonance imaging of the hip is fundamental for its diagnosis, and its management consists on medical treatment at onset. Despite not being a frequent diagnosis in the clinical practice in rheumatology, keeping it in mind helps improving its prognosis by establishing an early and adequate treatment.(AU)

Consenso Baiona sobre Incontinencia Fecal: Asociación Española de Coloproctología / Baiona's Consensus Statement for Fecal Incontinence. Spanish Association of Coloproctology

La incontinencia fecal (IF) constituye un importante problema sanitario, tanto a nivel individual como para los diferentes sistemas de salud, lo que origina una preocupación generalizada para su resolución o, al menos, disminuir en lo posible los numerosos efectos indeseables que provoca, al margen del elevado gasto que ocasiona. Existen diferentes criterios relacionados con las pruebas diagnósticas a realizar, y lo mismo acontece con relación al tratamiento más adecuado, dentro de las numerosas opciones que han proliferado durante los últimos años, no siempre basadas en una rigurosa evidencia científica. Por dicho motivo, desde la Asociación Española de Coloproctología (AECP) nos propusimos elaborar un Consenso que sirviese de orientación a todos los profesionales sanitarios interesados en el problema, conscientes, no obstante, de que la decisión terapéutica debe tomarse de manera individualizada: características del paciente/experiencia del terapeuta. Para su elaboración optamos por la técnica de grupo nominal. Los niveles de evidencia y los grados de recomendación se establecieron de acuerdo a los criterios del Oxford Centre for Evidence-Based Medicine. Por otra parte, en cada uno de los ítems analizados se añadieron, de forma breve, recomendaciones de los expertos.(AU)

Faecal incontinence (FI) is a major health problem, both for individuals and for health systems. It is obvious that, for all these reasons, there is widespread concern for healing it or, at least, reducing as far as possible its numerous undesirable effects, in addition to the high costs it entails. There are different criteria for the diagnostic tests to be carried out and the same applies to the most appropriate treatment, among the numerous options that have proliferated in recent years, not always based on rigorous scientific evidence. For this reason, the Spanish Association of Coloproctology (AECP) proposed to draw up a Consensus to serve as a guide for all health professionals interested in the problem, aware, however, that the therapeutic decision must be taken on an individual basis: patient characteristics/experience of the care team. For its development it was adopted the Nominal Group Technique methodology. The Levels of Evidence and Grades of Recommendation were established according to the criteria of the Oxford Centre for Evidence-Based Medicine. In addition, expert recommendations were added briefly to each of the items analysed.(AU)

Características operativas de la ecografía en el diagnóstico del Síndrome de Sjögren / Operational characteristics of ultrasound in the diagnosis of Sjögren's syndrome

Antecedentes y objetivo: Determinar las características operativas de la ecografía de glándula salival (EGS) en el diagnóstico del síndrome de Sjögren (SS) en una población de pacientes colombianos con síntomas secos. Materiales y métodos: Estudio de pruebas diagnósticas en pacientes con síntomas secos que asistieron a la consulta de reumatología (2018-2020). Se obtuvieron datos sociodemográficos y clínicos a través de una encuesta, pruebas paraclínicas, oftalmológicas, biopsia de glándula salival menor, flujo salival no estimulado y EGS (puntuación 0-6 basada en De Vita). Se calcularon la sensibilidad, la especificidad y los valores predictivos positivo (VPP) y negativo (VPN) (Stata 15®). Se desarrolló la curva de características operativas del receptor (COR). Resultados: Se incluyó a 102 pacientes (34 con SS y 68 sin SS), edad media ± desviación estándar de 55,69 ± 11,93 años, 94% mujeres. La ecografía positiva (puntuación de 2 o más) fue más frecuente en el grupo de SS, (70,6% vs. 22,1%, p < 0,0001). La sensibilidad fue igual para el grado 2 y 3 (70,59%), con una especificidad mayor (89,71%) para el grado 3 (VPP 77,42% VPN 85,92). La curva COR a partir de la sumatoria de las glándulas por medio de ecografía, fue mejor que las de las glándulas independientes. La curva COR de la ecografía presentó una mayor área bajo la curva (0,72 [0,61-0,82]) que la del análisis histológico (puntuación por focos) (0,68 [0,59-0,78]), p = 0,0252. Conclusión: La EGS es un método útil y confiable para la clasificación del SS. Se podría plantear su uso futuro dentro de los criterios clasificatorios del SS.(AU)

Background and objective: To determine the operational characteristics of salivary gland ultrasound (SGU) in the diagnosis of Sjögren's syndrome (SS) in a population of colombian patients with dry symptoms. Materials and methods: Study of diagnostic tests in patients with dry symptoms who consecutively attended the rheumatology consultation (2018-2020). Sociodemographic and clinical data were obtained through a survey, paraclinical and ophthalmological tests, minor salivary gland biopsy, unstimulated salivary flow and SGU (score 0-6 based on De Vita) were done. Sensitivity, specificity, positive (PPV) and negative (NPV) predictive values (Stata 15®) were calculated. The receiver operating characteristics (ROC) curve was developed. Results: 102 patients were included (34 SS and 68 non-SS), mean age 55.69 (± 11.93) years, 94% women. Positive ultrasound (score of 2 or more) was more frequent in the SS group, (70.6% vs. 22.1%, P<.0001). The sensitivity was the same for grade 2 and 3 (70.59%), with a higher specificity (89.71%) for grade 3 (PPV 77.42% NPV 85.92). The ROC curve from the sum of the glands by means of ultrasound was better than those of the independent glands. The ROC curve of the ultrasound presented a greater area under the curve (0.72 [0.61-0.82]) than that of the histological analysis (focus score) (0.68 [0.59-0.78]), P=.0252. Conclusion: Salivary gland ultrasound is a useful and reliable method for the classification of SS. Its use could be considered in the future within the SS classification criteria.

Rapid diagnostic tests for dengue would reduce hospitalizations, healthcare costs and antibiotic prescriptions in Spain: A cost-effectiveness analysis / Los tests de diagnóstico rápido para dengue reducirían las hospitalizaciones, los costes sanitarios y la prescripción de antibióticos en España: un análisis de coste-efectividad

Background: Current gold standard diagnostic techniques for dengue are expensive and time-consuming. Rapid diagnostic tests (RDTs) have been proposed as alternatives, although data about their potential impact in non-endemic areas is scarce. Methods: We performed a cost-effectiveness analysis comparing the costs of dengue RDTs to the current standard of care for the management of febrile returning travelers in Spain. Effectiveness was measured in terms of potential averted hospital admissions and reduction of empirical antibiotics, based on 2015–2020 dengue admissions at Hospital Clinic Barcelona (Spain). Results: Dengue RDTs were associated with 53.6% (95% CI: 33.9–72.5) reduction of hospital admissions and were estimated to save 289.08–389.31€ per traveler tested. Moreover, RDTs would have avoided the use of antibiotics in 46.4% (95% CI: 27.5–66.1) of dengue patients. Discussion: Implementation of dengue RDTs for the management of febrile travelers is a cost-saving strategy that would lead to a reduction of half of dengue admissions and a reduction of inappropriate antibiotics in Spain.(AU)

Introducción: El actual gold standard para el diagnóstico de dengue se basa en técnicas caras y que requieren tiempo. Los tests de diagnóstico rápido (TDR) se han propuesto como una posible alternativa, aunque los datos sobre su posible impacto en áreas no endémicas son escasos. Métodos: Realizamos un análisis de coste-efectividad comparando los costes del uso de TDR para dengue con el manejo habitual de viajeros con fiebre en España. Para medir la efectividad se estimaron las hospitalizaciones potencialmente evitables y la reducción de antibióticos empíricos de acuerdo con las hospitalizaciones por dengue entre 2015-2020 en el Hospital Clínic Barcelona (España). Resultados: El uso de TDR para dengue se asoció con una reducción de 53.6% (IC 95%: 33.9–72.5) de las hospitalizaciones y un ahorro de 289.08-389.31€ por viajero testado. Además, el uso de TDR hubiese evitado el tratamiento de antibióticos en 46.4% (IC 95%: 27.5–66.1) de los casos de dengue. Discusión: La implementación de TDR de dengue para el manejo de viajeros con fiebre es una medida de reducción de gastos que disminuiría a la mitad los ingresos hospitalarios por dengue y supondría una reducción del uso inapropiado de antibióticos en España.(AU)

The role of rapid syndromic diagnostic testing of gastrointestinal pathogens as a clinical decision support tool in a pediatric emergency department.

PURPOSE: This study aimed to investigate the role of rapid syndromic diagnostic testing of gastrointestinal pathogens as a clinical decision support tool in a pediatric emergency department (ED) by comparing clinical decision and patient outcome parameters pre- and post-implementation. METHODS: This was a big data analytical study of children < 18 years old without any underlying diseases, that visited the ED with acute moderate to severe diarrhea during a 34-month period from 2018 to 2022 using Seoul St. Mary's hospital's healthcare corporate data warehouse to retrieve demographic, clinical, and laboratory parameters. Outcome measures pre- and post-implementation of a rapid syndromic multiplex gastrointestinal panel (GI panel) were compared. RESULTS: A total of 4,184 patients' data were included in the analyses. Broad spectrum antibiotics were prescribed at a significantly lower rate to patients presenting with acute infectious diarrhea at discharge from the ED (9.9% vs 15.8%, P < 0.001) as well as upon admission (52.2% vs 66.0%, P < 0.001) during the post-implementation period compared to the pre-implementation period. Although the duration of ED stay was found to be significantly longer (6.5 vs 5.5 h, P < 0.0001), the rate of ED revisit due to persistent or aggravated symptoms was significantly lower (Δ in intercept, ß = -0.027; SE = 0.013; P = 0.041), and the admission rate at follow up after being discharged from the ED shown to be significantly lower during the post-implementation period compared to the pre-implementation period (0.8% vs. 2.1%, P = 0.001, respectively). No significant difference in disease progression was observed (P = 1.000). CONCLUSION: Using the GI panel in the ED was shown to decrease broad spectrum antibiotic prescribing practices and reduce revisits or admission at follow up by aiding clinical decisions and improving patient outcome.

Characteristics and outcomes of Clostridioides difficile infection after a change in the diagnostic testing algorithm.

BACKGROUND: Polymerase chain reaction (PCR) testing for the detection of C. difficile is a highly sensitive test. Some clinical laboratories have included a 2-step testing algorithm utilizing PCR plus toxin enzyme immunoassays (EIAs) to increase specificity. OBJECTIVE: To determine the risk factors and outcomes of C. difficile PCR-positive/toxin-positive encounters compared to PCR-positive/toxin-negative encounters. DESIGN: Retrospective study. SETTING: A Veterans' Affairs hospital. METHODS: A retrospective case-control study of patient encounters with a positive C. difficile test by PCR and either a toxin EIA-positive assay (ie, cases) or toxin EIA-negative assay (ie, controls). Clinically relevant exposures and risk factors were determined to assess CDI recurrence at 30 days. Available encounter stool specimens were cultured for C. difficile and were subjected to restriction endonuclease analysis (REA) strain typing. RESULTS: Among 130 C. difficile PCR-positive patient encounters, 80 (61.5%) were toxin EIA negative and 50 (38.5%) were toxin EIA positive. Encounters that were toxin positive were more frequently treated (96.0%) compared to toxin-negative encounters (71.3%; P < .01). A multivariable logistic regression model revealed that toxin-negative encounters were less likely to suffer a recurrent CDI episode within 30 days (odds ratio [OR], 0.20, 95% confidence interval [CI], 0.05-0.83). Additionally, a higher C. difficile PCR cycle threshold predicted a lower risk of CDI recurrence at 30 days. (OR, 0.82; 95% CI, 0.68-0.98). During the study period, the REA group Y strain accounted for most toxin-negative encounters (32.5%; P = .05), whereas REA group BI strain accounted for most toxin-positive encounters (24.3%; P = .02). CONCLUSIONS: A testing strategy of PCR plus toxin EIA helped predict recurrent CDI.

Presentation, Diagnostic Testing and Initial Treatment of Vitreoretinal Lymphoma.

PURPOSE: Vitreoretinal lymphoma is a malignancy with high mortality. Incidence is rare, and there is a lack of medical evidence to direct management. This work describes presentation, diagnostic testing, and first treatment approaches in a recently diagnosed and treated patient cohort. DESIGN: Clinical registry-based observational study. SUBJECTS: Forty-eight women and 32 men (age range, 32-91 years; median age, 64 years) diagnosed with vitreoretinal lymphoma. METHODS: An international network of ophthalmologists reported clinical features and management of patients presenting with vitreoretinal lymphoma between January 1, 2020 and December 31, 2022 via an electronic platform. MAIN OUTCOME MEASURES: Visual acuity at presentation (logarithm of the minimum angle of resolution [logMAR]); basis for diagnosis; first treatment. RESULTS: Vitreoretinal lymphoma was bilateral at presentation in 65% of patients (n = 52) and an initial site of lymphoma in 78% (n = 62). Of 127 eyes with lymphoma at presentation, vitreous was involved in 89% (n = 113) and was the only involved eye tissue in 40% (n = 51), and retina was involved in 46% (n = 59) and was the only involved eye tissue in 9% (n = 11). Median logMAR visual acuity of the worse-seeing eye was 0.50. The lymphoma was diagnosed from ocular specimens in 80% of patients (64/80), usually vitreous (57/64 patients [89%]), and on other clinical information in 20% of patients (16/80). Cellular studies were performed on ocular specimens from 59 of 64 patients (92%), most often cytology. Tumor gene analysis was used in 21 of 64 patients (33%), and cytokine assays were used in 13 of 64 patients (20%). For 76 patients (95%), treatment was initiated within 6 months of diagnosis and included ocular (38/76 [48%]), extraocular (17/76 [21%]), and ocular plus extraocular (21/76 [26%]) approaches. Intravitreal methotrexate was the most common ocular treatment (83/87 eyes [95%]). CONCLUSIONS: Using data collected from 80 patients diagnosed with vitreoretinal lymphoma since 2020, we show that visual impairment is common, and that management often involves diagnosis by cellular tests and treatment with intravitreal chemotherapy. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Is Hypertension Diagnostic Testing and Diagnosis Associated With Psychological Distress?

BACKGROUND: Psychological impacts of hypertension diagnostic testing and new hypertension diagnoses are unclear. METHODS: BP-CHECK was a randomized diagnostic study conducted in 2017-2019 in an integrated healthcare system. Participants with no hypertension diagnosis or medications and elevated blood pressure (BP) were randomized to one of three diagnostic regimens: (i) Clinic, (ii) Home, or (iii) Kiosk. Participants completed questionnaires at baseline, after completion of the diagnostic regimens, and at 6 months. Outcomes included changes from baseline in health-related quality of life (HRQOL), BP-related worry, and thoughts about having a stroke or heart attack. RESULTS: Participants (n = 482) were mostly over age 50 (77.0%), and White race (80.3%). HRQOL did not significantly change from baseline to 3 weeks or 6 months. Among all participants, BP-related worry and concerns about having a heart attack or stroke increased significantly from baseline to 3 weeks, with heart attack and stroke concerns significantly higher in the Kiosk compared Clinic and Home groups. At 6 months, thoughts about having a heart attack or stroke returned to baseline overall and in the Kiosk group, however BP-related worry was significantly higher among those with, compared to those without, a new hypertension diagnosis. CONCLUSIONS: The hypertension diagnostic process did not lead to short-term or intermediate-term changes in self-reported HRQOL. However, BP-related worry increased short-term and persisted at 6 months among individuals with a new hypertension diagnosis. Results warrant validation in more representative populations and additional exploration of the impacts of this worry on psychological well-being and hypertension control. CLINICALTRIALS.GOV IDENTIFIER: NCT03130257.

Modelling counterfactual incidence during the transition towards culture-independent diagnostic testing.

BACKGROUND: Culture-independent diagnostic testing (CIDT) provides rapid results to clinicians and is quickly displacing traditional detection methods. Increased CIDT use and sensitivity likely result in higher case detection but might also obscure infection trends. Severe illness outcomes, such as hospitalization and death, are likely less affected by changes in testing practices and can be used as indicators of the expected case incidence trend had testing methods not changed. METHODS: Using US Foodborne Diseases Active Surveillance Network data during 1996-2019 and mixed effects quasi-Poisson regression, we estimated the expected yearly incidence for nine enteric pathogens. RESULTS: Removing the effect of CIDT use, CIDT panel testing and culture-confirmation of CIDT testing, the modelled incidence in all but three pathogens (Salmonella, Shigella, STEC O157) was significantly lower than the observed and the upward trend in Campylobacter was reversed from an observed 2.8% yearly increase to a modelled -2.8% yearly decrease (95% credible interval: -4.0, -1.4). CONCLUSIONS: Severe outcomes may be useful indicators in evaluating trends in surveillance systems that have undergone a marked change.

Diagnostic testing and antibiotic utilization among inpatients evaluated for coronavirus disease 2019 (COVID-19) pneumonia.

We evaluated diagnostic test and antibiotic utilization among 252 patients from 11 US hospitals who were evaluated for coronavirus disease 2019 (COVID-19) pneumonia during the severe acute respiratory coronavirus virus 2 (SARS-CoV-2) omicron variant pandemic wave. In our cohort, antibiotic use remained high (62%) among SARS-CoV-2-positive patients and even higher among those who underwent procalcitonin testing (68%).

Dosage du sC5b-9 plasmatique / Plasma sC5b-9 Assay / Dosage of plasma sC5b-9

INTRODUCTION: Une demande d'introduction d'une nouvelle analyse au Répertoire québécois et système de mesure des procédures de biologie médicale (ci-après nommé Répertoire) a été transmise à l'Institut national d'excellence en santé et en services sociaux (INESSS) à travers le mécanisme d'évaluation des nouvelles analyses de biologie médicale. Le mandat vise à évaluer la pertinence d'introduire le dosage du sC5b-9 plasmatique au Répertoire. Il s'agit de la troisième évaluation pour ce mandat. Étant donné que cette demande comporte des éléments nouveaux, l'INESSS a procédé à la réévaluation de la pertinence de réaliser ce dosage selon une perspective provinciale. MÉTHODOLOGIE: La démarche d'évaluation comprend une revue de la documentation scientifique, une recherche de la littérature grise et des consultations menées auprès de cliniciens et autres parties prenantes. La méthodologie a été déployée autour des cinq dimensions de l'énoncé de principes du cadre d'appréciation de la valeur des interventions de l'INESSS : socioculturelle, populationnelle, clinique, organisationnelle et économique. Une revue de la littérature économique a été réalisée concernant l'efficience du dosage du sC5b-9. Une analyse d'impact budgétaire considérant les coûts liés à l'introduction du dosage du sC5b-9 au Répertoire a été effectuée. Les coûts ont été projetés sur un horizon temporel de trois ans selon la perspective du système de soins de santé. L'ensemble des données scientifiques, contextuelles et expérientielles a été interprété et synthétisé sous la forme de constats afin de guider le processus de délibération du Comité délibératif permanent (CDP) ­ Approches diagnostiques et dépistage en vue de l'élaboration de recommandations. CONTEXTE DE L'ÉVALUATION: Les microangiopathies thrombotiques (MAT) sont un groupe de maladies hétérogènes qui se manifestent par une anémie hémolytique, une thrombopénie et des dommages aux organes, souvent les reins. Les MAT médiées par le complément sont caractérisées par un dérèglement de la voie alterne du complément. Cette pathologie est actuellement identifiée par exclusion en raison du manque d'outils fonctionnels pour la diagnostiquer. L'errance diagnostique a des répercussions sur la prise en charge des patients et, par conséquent, retarde l'instauration d'un traitement approprié. L'activation du complément mène à la formation du complexe d'attaque membranaire (MAC [de l'anglais membrane attack complex] ou C5b-9). Le dosage du sC5b-9 mesure ce complexe dans sa forme soluble. DIMENSION SOCIOCULTURELLE: Il s'agit de la troisième évaluation de la pertinence de l'ajout du dosage du sC5b-9 au Répertoire. Depuis les avis publiés en 2017 et 2018, de nouvelles informations permettent de répondre aux préoccupations soulevées par les membres du Comité délibératif permanent lors des évaluations antérieures, notamment concernant l'absence de consensus pour une concentration seuil et le manque de sensibilité et de spécificité diagnostiques. Le dosage du sC5b-9 est déjà utilisé dans la pratique clinique au Québec pour la recherche de l'étiologie d'une MAT. Cette mesure fait également partie d'un ensemble de critères pour justifier l'instauration d'un traitement inhibiteur du complément, notamment l'éculizumab, soit un médicament très dispendieux. Une MAT médiée par le complément est une maladie rare et l'accès à une analyse facilitant le diagnostic de cette pathologie concorde avec la Politique québécoise pour les maladies rares du ministère de la Santé et des Services sociaux (MSSS) adoptée en 2022. En 2023, un regroupement d'experts (TA-TMA [transplant-associated TMA] Harmonization of Definitions panel) représentant plusieurs organisations a également recommandé le dosage du sC5b-9 dans la stratification des risques et le diagnostic d'une MAT associée à une transplantation (MAT-AT). DIMENSION POPULATIONNELLE: Une MAT médiée par le complément représente une situation d'urgence en raison du risque de détérioration rapide. En l'absence de traitement, les patients sont confrontés à un pronostic défavorable pouvant entraîner des conséquences fatales. En pratique clinique, l'éculizumab, un inhibiteur de la protéine C5, est entre autres utilisé pour traiter les MAT médiées par le complément. L'INESSS n'a toutefois jamais procédé à son évaluation pour cette pathologie puisqu'aucune demande n'a été soumise par le fabricant de ce médicament. Il existe également d'autres traitements inhibiteurs du complément et de nouveaux sont en cours de développement. Selon les cliniciens consultés, un besoin de santé existe pour les patients atteints d'une MAT, puisqu'il y a un manque d'outils diagnostiques fonctionnels pour identifier promptement celles médiées par le complément. Un diagnostic plus hâtif de cette pathologie permettrait d'instaurer rapidement un traitement inhibiteur du complément. Le dosage du sC5b-9 fait partie des outils pour répondre à ce besoin de santé. Une valeur normale n'exclut toutefois pas le diagnostic de MAT médiée par le complément et n'écarte pas non plus la possibilité d'instaurer un traitement inhibiteur du complément. DIMENSION CLINIQUE: La revue de la littérature a permis de repérer 14 articles, soit 2 revues systématiques, 6 études de cohorte, 4 études cas-témoins, 1 analyse exploratoire d'une étude clinique de phase III et 1 consensus d'experts. Selon la littérature et les cliniciens consultés, le dosage du sC5b-9 est une analyse utile pour investiguer l'étiologie d'une MAT, mais il ne pourrait confirmer un diagnostic à lui seul. Une MAT doit d'abord être établie selon des critères bien définis, notamment en présence d'une anémie hémolytique, d'une thrombopénie et de schizocytes aux frottis. De plus, l'obtention d'une valeur normale n'écarte pas forcément ce diagnostic. En contexte de greffe, le dosage du sC5b-9 est utilisé comme outil diagnostique avec les manifestations cliniques appropriées, lorsqu'il y a suspicion que le patient présente une MAT-AT. Le dosage du sC5b-9 permet également de cibler les patients qui pourraient être admissibles à un traitement inhibiteur du complément, sans nécessairement exclure cette option de traitement si la valeur observée est normale. DIMENSION ORGANISATIONNELLE: Actuellement, le dosage du sCb-9 est offert hors Répertoire au laboratoire d'hémostase du CHU Sainte-Justine. Aucune grappe OPTILAB autre que celle du Montréal-CHU Sainte-Justine n'effectue cette analyse localement, et aucune ne voit l'intérêt de l'ajouter à son offre de service pour le moment en raison de la faible volumétrie. De plus, les délais actuellement observés avant l'obtention des résultats concordent avec les utilisations anticipées. Advenant l'ajout au Répertoire du dosage du sC5b-9, si un seul centre était désigné, cela serait jugé adéquat. Il serait cependant souhaitable que les analyses en lien avec la recherche de l'étiologie d'une MAT soient accessibles dans le même centre afin de cadrer avec la trajectoire de soins d'un patient. DIMENSION ÉCONOMIQUE: Efficience: Aucune étude évaluant l'efficience du dosage du sC5b-9 pour préciser un diagnostic de microangiopathie thrombotique (MAT) médiée par le complément ou pour optimiser le traitement avec un inhibiteur du complément n'a été repérée dans la documentation scientifique. L'efficience du test du dosage du sC5b-9 ne peut pas être évaluée considérant l'absence de données permettant de quantifier les bénéfices de santé découlant de son utilisation. Analyse d'impact budgétaire: Selon les hypothèses retenues, l'introduction du test permettant le dosage du sC5b-9 au Répertoire pourrait entraîner des coûts d'environ 92 000 $ pour le total des trois premières années. Il est estimé que 1 100 tests seront effectués sur cet horizon. Les analyses de sensibilité réalisées montrent que l'impact net lié à l'introduction du test permettant le dosage du sC5b-9 au Répertoire pourrait varier d'environ 74 000 $ à 132 000 $ sur trois ans. Recommandations: À la lumière des constats dégagés à partir des cinq dimensions de valeur, l'INESSS recommande au ministre d'introduire le dosage du sC5b-9 plasmatique au Répertoire. L'INESSS précise quelques recommandations quant à l'implantation de l'analyse: Maintenir un temps de réponse qui concorde avec les utilisations anticipées; Advenant la désignation de plus d'un centre, s'assurer d'offrir les analyses en lien avec la recherche de l'étiologie d'une MAT au même endroit afin de faciliter la trajectoire de soins des patients.