[Cardiac sarcoidosis: a diagnostic and therapeutic challenge]. / Sarcoïdose cardiaque : un défi diagnostique et thérapeutique.

The diagnosis of cardiac sarcoidosis, particularly in its isolated cardiac form, represents a major challenge due to non-specific symptoms and the limited sensitivity and specificity of basic cardiac investigations. MRI and metabolic PET-CT are important elements in the diagnostic process. Corticosteroids remain the cornerstone for the treatment of the inflammatory phase, in association with biological agents and steroid-sparing therapies. The goal is to limit the progression of fibrosis, which is a source of malignant arrhythmias and heart failure. The indication for implantation of a cardiac defibrillator must be carefully evaluated to reduce the risk of sudden death. Multidisciplinary collaboration is essential for optimal care.

Le diagnostic de sarcoïdose cardiaque, en particulier dans sa forme cardiaque isolée, représente un défi majeur en raison de symptômes aspécifiques et d'une sensibilité et spécificité limitées des explorations cardiologiques de base. L'IRM et le PET-CT métabolique sont devenus des éléments essentiels dans le processus diagnostique. Les corticostéroïdes restent la pierre angulaire du traitement dans la phase inflammatoire, parallèlement aux agents biologiques et aux thérapies d'épargne cortisonique. L'objectif est d'éviter la progression vers la fibrose, source d'arythmies malignes et d'insuffisance cardiaque. L'indication à l'implantation d'un défibrillateur cardiaque doit être soigneusement évaluée afin de réduire le risque de mort subite. Une collaboration multidisciplinaire est essentielle afin d'assurer une prise en charge optimale.

The role of ICDs in patients with sarcoidosis-A comprehensive review.

BACKGROUND: Implantable cardioverter defibrillator (ICD) use in cardiac sarcoidosis (CS) to prevent sudden cardiac death (SCD) is a potentially life-saving intervention. However, the factors that determine outcome in this cohort remains largely unknown. This review analyses CS patients with an ICD and highlights determinants of poor outcome. OUTCOMES: Analysis of studies which used the 2014 HRS Consensus, 2017 AHA/ACC/HRS Guideline and 2022 ESC Guidelines showed that those with class I recommendations have higher incidences of ventricular arrhythmia (VA) than those with class II recommendations. Additionally, even those with normal left ventricular ejection fraction (LVEF) and CS are at high risk of VA and SCD. SUMMARY: Compounding research emphasises the importance of cardiac imaging in those with sarcoidosis, with evidence to suggest a possible need for revision of the guidelines. Other variables such as demographics and ventricular characteristics may prove useful in predicting those to benefit most from ICD insertion.

Hybrid Magnetic Resonance Positron Emission Tomography Is Associated With Cardiac-Related Outcomes in Cardiac Sarcoidosis.

BACKGROUND: Imaging with late gadolinium enhancement (LGE) magnetic resonance (MR) and 18F-fluorodeoxyglucose (18F-FDG) PET allows complementary assessment of myocardial injury and disease activity and has shown promise for improved characterization of active cardiac sarcoidosis (CS) based on the combined positive imaging outcome, MR(+)PET(+). OBJECTIVES: This study aims to evaluate qualitative and quantitative assessments of hybrid MR/PET imaging in CS and to evaluate its association with cardiac-related outcomes. METHODS: A total of 148 patients with suspected CS underwent hybrid MR/PET imaging. Patients were classified based on the presence/absence of LGE (MR+/MR-), presence/absence of 18F-FDG (PET+/PET-), and pattern of 18F-FDG uptake (focal/diffuse) into the following categories: MR(+)PET(+)FOCAL, MR(+)PET(+)DIFFUSE, MR(+)PET(-), MR(-)PET(+)FOCAL, MR(-)PET(+)DIFFUSE, MR(-)PET(-). Further analysis classified MR positivity based on %LGE exceeding 5.7% as MR(+/-)5.7%. Quantitative values of standard uptake value, target-to-background ratio, target-to-normal-myocardium ratio (TNMRmax), and T2 were measured. The primary clinical endpoint was met by the occurrence of cardiac arrest, ventricular tachycardia, or secondary prevention implantable cardioverter-defibrillator (ICD) before the end of the study. The secondary endpoint was met by any of the primary endpoint criteria plus heart failure or heart block. MR/PET imaging results were compared between those meeting or not meeting the clinical endpoints. RESULTS: Patients designated MR(+)5.7%PET(+)FOCAL had increased odds of meeting the primary clinical endpoint compared to those with all other imaging classifications (unadjusted OR: 9.2 [95% CI: 3.0-28.7]; P = 0.0001), which was higher than the odds based on MR or PET alone. TNMRmax achieved an area under the receiver-operating characteristic curve of 0.90 for separating MR(+)PET(+)FOCAL from non-MR(+)PET(+)FOCAL, and 0.77 for separating those reaching the clinical endpoint from those not reaching the clinical endpoint. CONCLUSIONS: Hybrid MR/PET image-based classification of CS was statistically associated with clinical outcomes in CS. TNMRmax had modest sensitivity and specificity for quantifying the imaging-based classification MR(+)PET(+)FOCAL and was associated with outcomes. Use of combined MR and PET image-based classification may have use in prognostication and treatment management in CS.

Diagnostic and management strategies in cardiac sarcoidosis.

Cardiac sarcoidosis (CS) is increasingly recognized in the context of with otherwise unexplained electrical or structural heart disease due to improved diagnostic tools and awareness. Therefore, clinicians require improved understanding of this rare but fatal disease to care for these patients. The cardinal features of CS, include arrhythmias, atrio-ventricular conduction delay and cardiomyopathy. In addition to treatments tailored to these cardiac manifestations, immunosuppression plays a key role in active CS management. However, clinical trial and consensus guidelines are limited to guide the use of immunosuppression in these patients. This review aims to provide a practical overview to the current diagnostic challenges, treatment approach, and future opportunities in the field of CS.

[Therapeutic Pathways in Sarcoidosis. A Position Paper of the German Society of Respiratory Medicine (DGP)]. / Therapie der Sarkoidose. Ein Positionspapier der Deutschen Gesellschaft für Pneumologie und Beatmungsmedizin (DGP).

The present recommendations on the therapy of sarcoidosis of the German Respiratory Society (DGP) was written in 2023 as a German-language supplement and update of the international guidelines of the European Respiratory Society (ERS) from 2021. It contains 5 PICO questions (Patients, Intervention, Comparison, Outcomes) agreed in the consensus process, which are explained in the background text of the four articles: Confirmation of diagnosis and monitoring of the disease under therapy, general therapy recommendations, therapy of cutaneous sarcoidosis, therapy of cardiac sarcoidosis.

Hospitalizations of patients with sarcoidosis before and during the COVID-19 pandemic in Poland.

INTRODUCTION: Sarcoidosis is a multisystemic granulomatous disease that mostly affects the lungs and lymphatic system. Due to its rarity and variable clinical course, analyses of factors related to sarcoidosis should be based on large databases and long observation periods. OBJECTIVES: The aim of this study was to determine the characteristics of patients with sarcoidosis hospitalized in Poland over a long period (2016-2021). PATIENTS AND METHODS: We conducted a retrospective study using hospital discharge records compiled by the National Institute of Public Health NIH - National Research Institute. We analyzed the records of patients with sarcoidosis from the entire Polish population at their first hospitalization. RESULTS: We identified a total of 15 548 first-time hospitalizations for sarcoidosis. The mean annual disease incidence was 6.8 cases per 100 000. The mean (SD) age of the patients was 45.8 (13.6) years, and it was lower in men than in women (42.9 [12.5] vs 49.8 [14.2] years; P <0.001). There were significantly more hospitalizations among city dwellers (62.3% vs 37.3% for rural residents; P <0.001). At the beginning of the COVID­19 pandemic in Poland there was a decrease in the number of hospitalizations for sarcoidosis, followed by an increase in the subsequent year. The all­cause in­hospital death rate was significantly higher during the COVID­19 pandemic, as compared with the period before the pandemic (7.2 vs 2.3 per 1000; P <0.001). CONCLUSIONS: Health care changes related to the outbreak of the COVID­19 pandemic may have increased the health debt for inpatient sarcoidosis treatment. The occurrence of sarcoidosis in Poland may be related to demographic and territorial factors.

Health-Related Quality of Life Assessment in Sarcoidosis.

Health-related quality of life (HRQoL) is of major concern to patients with sarcoidosis. HRQoL impairment is the most common reason to treat the disease. Advances in patient-reported outcome (PRO) methodology offer the promise to use these instruments to follow quality of life in individual patients with sarcoidosis over time. Several HRQoL issues will be highlighted including their clinical importance, common causes in patients with sarcoidosis, the construction and use of PROs in clinical sarcoidosis trials, methods to adapt PROs to monitor HRQoL in individual patients with sarcoidosis, and the approach to improving HRQoL in this disease.

Cardiac Sarcoidosis.

Cardiac involvement is a major cause of morbidity and mortality in patients with sarcoidosis. It is important to distinguish between clinical manifest diseases from clinically silent diseases. Advanced cardiac imaging studies are crucial in the diagnostic pathway. In suspected isolated cardiac sarcoidosis, it's key to rule out alternative diagnoses. Therapeutic options can be divided into immunosuppressive agents, guideline-directed medical therapy, antiarrhythmic medications, device/ablation therapy, and heart transplantation.

Hematologic and Oncologic Aspects of Sarcoidosis: Some of the Least Studied but Most Common Dilemmas.

The hematologic system is frequently involved in sarcoidosis. Lymphopenia is the most common hematologic manifestation noted, although anemia and thrombocytopenia also occur. The etiology of these common manifestations can be direct granulomatous infiltration of bone marrow, lymph nodes, or spleen or related to immunologic dysfunction. Although not life threatening, these problems can lead to cytopenias requiring close monitoring in patients receiving a variety of disease treatments. The relationship between sarcoidosis and malignancy remains complex. However, some sarcoidosis patients are at increased risk for the development of malignancies, particularly lymphomas and gastrointestinal cancers. Conversely, cancer patients can experience an increase in the likelihood for the development of breast cancer and lymphomas.

Ocular Sarcoidosis.

Sarcoidosis frequently affects the eye and can do so in many different ways. Sarcoidosis causing uveitis can have distinctive features that facilitate identifying sarcoidosis as the cause of the uveitis. Progress is being made in elucidating ocular sarcoidosis, as for example, by transcriptomics, genetics, therapy, and imaging.

Biomarkers in Sarcoidosis: Beginning of a New Era?

At present, no biomarker exists which is truly specific for sarcoidosis and the ones available have modest sensitivity and specificity. The clinical context should dictate the choice of biomarker(s) used to address different clinical questions such as diagnosis, monitoring disease activity or monitoring response to treatment. In the future, in addition to known serum biomarkers, it seems fruitful to further explore a possible role of imaging, exhaled air and even biopsy-related biomarkers in sarcoidosis to guide clinical management.

Monitoring of Sarcoidosis.

This article focuses on the monitoring of pulmonary sarcoidosis. The monitoring of sarcoidosis is, in part, focused on serial change in major organ involvement but also includes diagnostic re-evaluation and review of change in quality of life. Recent criteria for progression of fibrotic interstitial lung disease are adapted to pulmonary sarcoidosis. The frequency and nature of monitoring are discussed, integrating baseline risk stratification and strategic treatment goals. Individual variables used to identify changes in pulmonary disease severity are discussed with a focus on their flaws and the need for a multidimensional approach. Other key monitoring issues are covered briefly.

Cutaneous Sarcoidosis.

Sarcoidosis is a multisystem disease that most commonly affects the lungs, lymphatic system, eyes, and skin but any organ may be involved. Cutaneous sarcoidosis most commonly presents as pink-red to red-brown papules and plaques that commonly affect the head and neck. With the skin being readily accessible for evaluation and biopsy, when sarcoidosis is suspected, dermatologic evaluation may be helpful for establishing a definitive diagnosis. Treatment strategy depends on the severity and distribution of skin lesions and should incorporate patient preference and treatment considerations for other organs that may be involved.

Sarcoidosis: Evaluation and Treatment.

Sarcoidosis is a multisystem granulomatous inflammatory disease of unknown etiology that can involve any organ. Ongoing dyspnea and dry cough in a young to middle-aged adult should increase the suspicion for sarcoidosis. Symptoms can present at any age and affect any organ system; however, pulmonary sarcoidosis is the most common. Extrapulmonary manifestations often involve cardiac, neurologic, ocular, and cutaneous systems. Patients with sarcoidosis can exhibit constitutional symptoms such as fever, unintentional weight loss, and fatigue. The early recognition and diagnosis of sarcoidosis are challenging because there is no diagnostic standard for testing, initial symptoms vary, and patients may be asymptomatic. Consensus guidelines recommend a holistic approach when diagnosing sarcoidosis that focuses on clinical presentation and radiographic findings, biopsy with evidence of noncaseating granulomas, involvement of more than one organ system, and elimination of other etiologies of granulomatous disease. Corticosteroids are the initial treatment for active disease, with refractory cases often requiring immunosuppressive or biologic therapies. Transplantation can be considered for advanced and end-stage disease depending on organ involvement.

Neurosarcoidosis.

Sarcoidosis affects the nervous system in 5% of cases. 60% of cases involve the cranial and peripheral nerves, the remainder the central nervous system, in which a leptomeningitis, a pachymeningitis and a vasculitis may arise. Stroke and cerebral haemorrhage may occur, and certain infections in the brain are more likely with sarcoidosis. Patients respond well to treatment but oftentimes with residual neurological impairments which may be severe. A greater understanding of the disease and the need for early treatment and use of biological therapies have improved treatment outcome in recent times.

¿Tuberculosis, sarcoidosis o ambas? / Tuberculosis, sarcoidosis or maybe both?

Presentamos un caso clínico de una paciente de 34 años con diagnóstico simultáneo de sarcoidosis y tuberculosis, sin ser inmunodeprimida ni tener factores de riesgo para ello. Esto supone un hallazgo muy poco común, y cuando aparece suele deberse a la inmunosupresión ocasionada por el tratamiento con esteroides de la sarcoidosis. En el caso que vamos a describir a continuación este hecho no sucede, motivo por el que se le otorga relevancia. Para llegar a los dos diagnósticos se realizaron las pruebas complementarias necesarias (analíticas sanguíneas, biopsias transbronquiales, pruebas de imagen, toracocentesis y biopsias pleurales), lo que permitió instaurar el tratamiento adecuado y, en consecuencia, la mejoría de la paciente. Con la presentación de este caso se pretende recalcar la importancia de hacer un buen enfoque diagnóstico en el servicio de urgencias, haciendo un hincapié en todos los signos y síntomas tanto directos como indirectos. (AU)

We report a case study of a 34-year-old patient with a simultaneous diagnosis of sarcoidosis and tuberculosis. The patient was not immunosuppressed and did not have risk factors for this. This is a very rare finding, and when it appears it is usually due to immunosuppression caused by corticosteroid treatment of sarcoidosis. In the case reported below, this does not occur, which is why it is relevant. To make both diagnoses, the necessary complementary tests were performed (blood tests, transbronchial biopsies, imaging tests, thoracentesis and pleural biopsies), which enabled appropriate treatment to be established and, consequently, the patient's improvement. Reporting this case enables us to emphasize the importance of making a good diagnosis in A&E, emphasizing all direct and indirect signs and symptoms. (AU)

Trends in Hospitalization Duration for Rare Diseases: A Retrospective Analysis of Sarcoidosis, Still's Disease, and Systemic Sclerosis in Poland (2009-2018).

BACKGROUND A rare disease is a health condition that rarely occurs in the population. It is estimated that up to 400 million people around the world suffer from a rare disease. This retrospective study aimed to investigate factors associated with length of hospitalization in 78 626 patients with sarcoidosis, 3294 patients with adults-onset Still's disease, and 35 549 patients with systemic sclerosis between 2009 and 2018 using data from the National Institute of Public Health in Poland. MATERIAL AND METHODS In this population-based study, we analyzed hospital discharge records of first-time and subsequent hospitalizations. To perform the statistical analyses, R software was used. RESULTS The average length of hospitalization over the selected period in the diseases was 5.39 days for sarcoidosis, 6.22 days for scleroderma, and 7.44 days for Still's disease, and was shorter for each of the diseases analyzed compared with the length of hospitalization for second and subsequent stays. There were no substantial differences in length of hospitalization between males and females. The average length of hospitalization increased with each additional comorbidity. CONCLUSIONS The study showed that hospitalizations for selected rare diseases do not cause a significant burden on the healthcare system. The results also showed that advanced age and comorbidities are important factors determining the length of hospitalization. The average length of hospital stay for selected rare diseases in Poland is not longer than the European Union (EU) average, so it can be assumed that the process of inpatient treatment in Poland is optimal.

[ 18 F] FDG PET/CT Imaging in a Rare Case of Sarcoidosis With Involvement of Epididymis.

ABSTRACT: Genitourinary involvement of sarcoidosis is an uncommon occurrence. In this report, we present [ 18 F] FDG PET/CT of a young adult man with sarcoidosis involving the epididymis, and we discuss the utility of FDG PET imaging in diagnosis and assessment of response to treatment.