Neurologic Manifestations of Rheumatologic Disorders.

OBJECTIVE: This article provides an overview of the neurologic manifestations of sarcoidosis and select rheumatologic disorders. An approach to the assessment and differential diagnosis of characteristic clinical presentations, including meningitis and vasculitis, is also reviewed. A review of treatment options is included as well as discussion of distinct areas of overlap, including rheumatologic disease in the setting of neuromyelitis spectrum disorder and demyelinating disease in the setting of tumor necrosis factor-α inhibitors. LATEST DEVELOPMENTS: An increased understanding of the immune mechanisms involved in sarcoidosis and rheumatologic diseases has resulted in a greater diversity of therapeutic options for their treatment. Evidence directing the treatment of the central nervous system (CNS) manifestations of these same diseases is lacking, with a paucity of controlled trials. ESSENTIAL POINTS: It is important to have a basic knowledge of the common CNS manifestations of rheumatologic diseases and sarcoidosis so that they can be recognized when encountered. In the context of many systemic inflammatory diseases, including systemic lupus erythematosus, IgG4-related disease, and sarcoidosis, CNS disease may be a presenting feature or occur without systemic manifestations of the disease, making familiarity with these diseases even more important.

Big data in sarcoidosis.

PURPOSE OF REVIEW: This review provides an overview of recent advancements in sarcoidosis research, focusing on collaborative networks, phenotype characterization, and molecular studies. It highlights the importance of collaborative efforts, phenotype characterization, and the integration of multilevel molecular data for advancing sarcoidosis research and paving the way toward personalized medicine. RECENT FINDINGS: Sarcoidosis exhibits heterogeneous clinical manifestations influenced by various factors. Efforts to define sarcoidosis endophenotypes show promise, while technological advancements enable extensive molecular data generation. Collaborative networks and biobanks facilitate large-scale studies, enhancing biomarker discovery and therapeutic protocols. SUMMARY: Sarcoidosis presents a complex challenge due to its unknown cause and heterogeneous clinical manifestations. Collaborative networks, comprehensive phenotype delineation, and the utilization of cutting-edge technologies are essential for advancing our understanding of sarcoidosis biology and developing personalized medicine approaches. Leveraging large-scale epidemiological resources and biobanks and integrating multilevel molecular data offer promising avenues for unraveling the disease's heterogeneity and improving patient outcomes.

Systemic sarcoidosis presenting with hypercalcemia, sinusitis and hypothalamic-pituitary dysfunction.

OBJECTIVES: Sarcoidosis is a multi-system granulomatous disease of unknown origin. It is mainly thought of as a lung disease but it can affect any organ system. Sinus and endocrine dysfunctions are described but are rare and seldomly linked with sarcoidosis. METHODS: Here we describe a case of a young Caucasian man who already visited multiple care givers for sinusitis, erectile dysfunction and anorexia. He presented at the emergency department with fever and emaciation, polyuria and polydipsia. The results of the blood sampling revealed a hypercalcaemia as well as abnormal thyroid function. RESULTS: After biochemical, radiological and histopathological workup, he was diagnosed with pulmonary sarcoidosis. Treatment with corticosteroids resulted in resolution of the sinusitis and normalisation of the calcemia, as well as the thyroid function while the impotence, polydipsia and polyuria remained. Elaboration revealed extra-pulmonary involvement of the sarcoidosis with dysfunction of the hypothalamic-pituitary axis with hypogonadotropic hypogonadism and diabetes insipidus due to a sellar mass. CONCLUSION: This is a rare case of systemic sarcoidosis with both thoracic and extra thoracic manifestations, with pituitary and sinus involvement. It shows that sarcoidosis can affect any organ system and diagnosis can be difficult in case of extrapulmonary manifestations.

The Renin-Angiotensin-Aldosterone System Regulates Sarcoidosis Granulomatous Inflammation.

Rationale: Sarcoidosis is a granulomatous disorder of unclear cause notable for abnormal elevation of blood and tissue ACE1 (angiotensin converting enzyme 1) levels and activity. ACE1 regulates the renin-angiotensin-aldosterone system (RAAS), the terminal product of which is aldosterone, which selectively engages mineralocorticoid receptors to promote inflammation. Objectives: We sought to determine whether the RAAS promotes sarcoidosis granuloma formation and related inflammatory responses. Methods: Using an established ex vivo model, we first determined whether aldosterone was produced by sarcoidosis granulomas and verified the presence of CYP11B2, the enzyme required for its production. We then evaluated the effects of selective inhibitors of ACE1 (captopril), angiotensin type 1 receptor (losartan), and mineralocorticoid receptors (spironolactone, eplerenone) on granuloma formation, reflected by computer image analysis-generated granuloma area, and selected cytokines incriminated in sarcoidosis pathogenesis. Measurements and Main Results: Aldosterone was spontaneously produced by sarcoidosis peripheral blood mononuclear cells, and both intra- and extracellular levels steadily increased during granuloma formation. In parallel, peripheral blood mononuclear cells were shown to express more CYP11B2 during granuloma formation. Significant inhibition of sarcoidosis granulomas and related cytokines (TNFα, IL-1ß, IFNγ, IL-10) was observed in response to pretreatments with captopril, losartan, spironolactone, or eplerenone, comparable to that of prednisone. Conclusions: The RAAS is intact in sarcoidosis granulomas and contributes significantly to early granuloma formation and to related inflammatory mediator responses, with important implications for clinical management.

Inflammation and Myocardial Blood Flow in Cardiac Sarcoidosis.

PURPOSE OF THE REVIEW: Cardiac involvement in systemic sarcoidosis or isolated cardiac sarcoidosis plays a pivotal role in the clinical manifestation and prognostication. Active-inflammatory cardiac sarcoidosis is associated with a regional impairment of coronary microvascular function that may confer further detrimental effects on myocardial function needing further characterization. RECENT FINDINGS: Clinical investigations with cardiac positron emission tomography/computed tomography in conjunction with 18F-fluorodeoxyglucose to determine myocardial inflammation and 13N-ammonia to quantify myocardial blood flow (MBF) in patients with known or suspected cardiac sarcoidosis outlined that sarcoidosis-induced myocardial inflammation was associated with adverse effects on corresponding regional coronary microvascular function. Notably, immune-suppressive treatment caused reductions in myocardial inflammation were paralleled by improvements of coronary microvascular dysfunction outlining direct adverse effect of inflammation on coronary arteriolar function. This review summarizes contributions of cardiac PET imaging in the identification and characterization of active-inflammatory cardiac sarcoidosis, its effect on coronary microvascular function, treatment responses, and prognostic implications.

Obstructive Sleep Apnea and Sarcoidosis Interactions.

Obstructive sleep apnea (OSA) is very prevalent in sarcoidosis patients. Sarcoidosis of the upper respiratory tract may affect upper airway patency and increase the risk of OSA. Weight gain due to steroid use, upper airway myopathy due to steroids and sarcoidosis itself, and interstitial lung disease with decreased upper airway patency are other reasons for the higher OSA prevalence seen in sarcoidosis. Several clinical manifestations such as fatigue, hypersomnolence, cognitive deficits, and pulmonary hypertension are common to both OSA and sarcoidosis. Therefore, early screening and treatment for OSA can improve symptoms and overall patient quality of life.

Quadriceps femoris muscle ultrasound in sarcoidosis: an observational case-control study.

BACKGROUND: Although loss of muscle mass may be associated with general weakness, intolerance to physical activity and fatigue, it is underestimated and poorly understood in patients with sarcoidosis. AIM: To compare the quadriceps femoris muscle (QFM) thickness measured by ultrasonography (US) between the female patients with sarcoidosis and controls, secondly to assess the correlation between the muscle strength, fatigue and QFM thickness. DESIGN: Observational, case-control study. SETTING: Physical Medicine and Rehabilitation Department of a University Hospital. POPULATION: Thirty-one women with sarcoidosis and 27 healthy volunteers were included in the study. METHODS: The participants were evaluated for the following outcomes: 1) handgrip strength; 2) QFM thickness measured using US; and 3) sonographic thigh adjustment ratio (STAR). The sarcoidosis group was also evaluated with the 30-second chair stand test (30s-CST) and Fatigue Severity Scale (FSS). RESULTS: The QFM thickness and STAR values of the patients with sarcoidosis were significantly lower than those of the controls (P=0.0001). However, no statistically significant difference was observed between the handgrip strengths of the groups (P=0.581). There was no statistically significant correlation between the STAR values and handgrip strength in the sarcoidosis group; however, there was a significant positive correlation between the STAR values and 30s-CST (r=0.467, P=0.008). CONCLUSIONS: Loss of muscle mass is one of the musculoskeletal conditions in patients with sarcoidosis that may be associated with nonspecific symptoms, such as general debility, intolerance to physical activity, and fatigue. In the present study, no difference was observed in hand grip strength between the groups, while we found that QFM thickness was affected in patients with sarcoidosis when compared to the controls. The ultrasonographic QFM evaluation seems to be an innovative tool which may be used at all stages of sarcoidosis patient follow-up. CLINICAL REHABILITATION IMPACT: The grip strength is a commonly used test to detect muscle weakness, but onset of a decrease in muscle mass in the lower extremities may occur earlier. Considering the increased burden of musculoskeletal problems in this population, performing 30s-CST and sonographic QFM thickness is practical methods to identify risky patients.

Unusual and Rare Causes of Monocular Elevation Deficit.

INTRODUCTION: To study the rare and unusual causes of monocular elevation deficit. METHODS: Five patients presenting to us with diplopia and elevation deficit were thoroughly examined and were found to have monocular elevation deficit due to rare causes. OBSERVATIONS: All five were found to have different underlying etiologies - iatrogenic, sphenoid wing meningioma, cysticercosis, sarcoidosis and mid brain infarct, and were managed appropriately. DISCUSSION: Monocular Elevation Deficit can occur due to a variety of causes. Having a high index of suspicion for the more serious etiologies is of utmost importance. Thorough clinical examination and imaging help clinch the diagnosis.

Administering the Sarcoidosis Health Questionnaire to sarcoidosis patients in Serbia / Aplicação do Sarcoidosis Health Questionnaire em pacientes com sarcoidose na Sérvia

Objective: The aim of this study was to use a Serbian-language version of the disease-specific, self-report Sarcoidosis Health Questionnaire (SHQ), which was designed and originally validated in the United States, to assess health status in sarcoidosis patients in Serbia, as well as validating the instrument for use in the country. Methods: This was a cross-sectional study of 346 patients with biopsy-confirmed sarcoidosis. To evaluate the health status of the patients, we used the SHQ, which was translated into Serbian for the purposes of this study. We compared SHQ scores by patient gender and age, as well as by disease duration and treatment. Lower SHQ scores indicate poorer health status. Results: The SHQ scores demonstrated differences in health status among subgroups of the sarcoidosis patients evaluated. Health status was found to be significantly poorer among female patients and older patients, as well as among those with chronic sarcoidosis or extrapulmonary manifestations of the disease. Monotherapy with methotrexate was found to be associated with better health status than was monotherapy with prednisone or combination therapy with prednisone and methotrexate. Conclusions: The SHQ is a reliable, disease-specific, self-report instrument. Although originally designed for use in the United States, the SHQ could be a useful tool for the assessment of health status in various non-English-speaking populations of sarcoidosis patients.

Objetivo: O objetivo deste estudo foi utilizar uma versão no idioma sérvio do Sarcoidosis Health Questionnaire (SHQ), um questionário de autorrelato doença-específico, concebido e originalmente validado nos EUA, para verificar o estado de saúde de pacientes com sarcoidose na Sérvia, além de validar o instrumento para uso no país. Métodos: Estudo transversal com 346 pacientes com sarcoidose confirmada por biópsia. Para avaliar o estado de saúde dos pacientes, utilizamos o SHQ, o qual foi traduzido para o sérvio para os propósitos deste estudo. Comparamos os escores do SHQ por gênero, idade, duração da doença e tratamento. Escores do SHQ mais baixos indicam pior estado de saúde. Resultados: Os escores do SHQ demonstraram diferenças no estado de saúde entre os subgrupos de pacientes avaliados. O estado de saúde foi significativamente pior entre as mulheres e pacientes mais velhos, assim como entre aqueles com sarcoidose crônica ou com manifestações extrapulmonares da doença. A monoterapia com metotrexato associou-se com melhor estado de saúde do que a monoterapia com prednisona ou a terapia combinada com prednisona e metotrexato. Conclusões: O SHQ é um instrumento de autorrelato doença-específico confiável. Embora originalmente concebido para uso nos EUA, o SHQ pode ser uma ferramenta útil na avaliação do estado de saúde de populações de pacientes com sarcoidose em vários países de língua não inglesa.

Síndrome de sarcoidosis-linfoma / Sarcoidosis-lymphoma syndrome

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Síndrome sarcoidosis-linfoma / Sarcoidosis-lymphoma syndrome

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Sarcoidosis esplénica aislada / Isolated splenic sarcoidosis

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Solución del caso 45. Sarcoidosis con afectación testicular / Solution to case 45. Sarcoidosis with testicular involvement

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Mujer con nódulos subcutáneos dolorosos y disnea / A woman with painful subcutaneous nodules and dyspnea

La sarcoidosis es una enfermedad crónica multisistémica que se caracteriza por la acumulación de células inflamatorias en el tejido afectado, secundaria a una excesiva respuesta inmunitaria celular. Puede presentarse en cualquier órgano, aunque el más frecuente es el pulmón. Las lesiones cutáneas de la sarcoidosis solamente están presentes en un 25-30% de los pacientes, y tienen una expresión clínica muy variable. Presentamos el caso de una mujer de 57 años que consulta al dermatólogo por nódulos subcutáneos dolorosos, y que en la anamnesis refiere astenia y disnea de pequeños esfuerzos. Debido a la presencia de la disnea se solicita una radiografía de tórax, que pone de manifiesto alteraciones en parénquima e hilios. Posteriormente se realizan biopsia cutánea y transbronquial, y se confirma el diagnóstico de sarcoidosis. Tras el tratamiento prolongado con corticoides vía oral remiten las lesiones dérmicas y pulmonares (AU)

Sarcoidosis is a multisystem chronic disease characterised by the accumulation of inflammatory cells into the affected tissue, secondary to excessive cellular immune response. It can occur in any organ, although the most common is the lung. The skin lesions of sarcoidosis are only present in 25-30% of patients, and have a highly variable clinical expression. We report the case of a 57 year-old woman who consulted a dermatologist for painful subcutaneous nodules, and describe her history of fatigue and severe dyspnea. Due to the presence of dyspnea a chest x-ray was requested, which showed changes in the parenchyma and hilum. A skin and transbronchial biopsy was subsequently performed, which confirmed the diagnosis of sarcoidosis. The skin and lung lesions subsided after prolonged treatment with oral adrenal cortex hormones (AU)