Search Results (16)

Objectives: Neurosarcoidosis (NS) is a severe and infrequent complication of sarcoidosis. Available data on NS are variable. We aimed to characterize NS epidemiology, clinical and therapeutic characteristics in a well-defined cohort of NS patients. Methods: Observational population-based cohort study of 342 patients diagnosed with sarcoidosis in Northern Spain, between 1999 and 2019. Among them, those patients who fulfilled the Consortium Consensus Group diagnosis criteria for NS were included. The annual incidence between 1999 and 2019 was estimated by gender, age, and year of diagnosis. Additionally, a literature review was performed. Therapeutic efficacy was evaluated using the neurological-related extra-pulmonary physician organ severity tool (ePOST). Results: NS was diagnosed in 29 out of 342 patients with sarcoidosis (8.5%; 18 women/11 men) with a mean age of 42.3 ± 15.1 years. Most NS patients have associated systemic sarcoidosis (93.4%) mainly consisting of lung (n = 22; 75.9%), articular (n = 15; 51.7%) and/or ocular (n = 12; 40%) involvement. The annual incidence of NS during the study period was 1.1 per 1,000,000 people. There is a linear relationship with a weak decrease in age at diagnosis over time. NS was subdivided into chronic headache (n = 11; 36.7%), cranial neuropathy (n = 7; 24.1%), myelitis (n = 4; 13.8%), peripheral neuropathy (n = 3; 10.3%), cranial neuropathy with chronic headache (n = 3; 10.3%) and aseptic meningitis (n = 2; 6.9%). Twenty-five patients (86.2%) received oral glucocorticoids (mean ± SD maximum prednisone dose 49.6 ± 19.4 mg/day). In addition, conventional immunosuppressive drugs were administered to 17 (58.6%) patients and biological therapy to 12 (41.4%) patients. After 12 months of initiating biological therapy, 14 out of 17 patients (82.4%) achieved complete remission, defined as an ePOST score of 0. Severe allergic reaction was observed in only one patient who had received treatment with both Infliximab and Adalimumab. Conclusions: The epidemiological, clinical and treatment characteristics of NS in Northern Spain are similar to that of other countries. Full article

Background/Objectives: Nontuberculous mycobacteria (NTM) represent a heterogeneous group of pathogens with increasing global prevalence and significant geographical variation in species distribution. NTM infections, often affecting immunocompromised individuals, are difficult to diagnose due to nonspecific clinical presentations and laboratory findings. This case study presents a rare extrapulmonary NTM infection in a 73-year-old man, initially misdiagnosed as sarcoidosis, highlighting the diagnostic and therapeutic challenges posed by such infections. Methods: The patient, a pigeon fancier, presented with recurrent fever and pancytopenia. Extensive diagnostics included blood cultures, bone marrow aspiration, and histopathology. Initial cultures and serological tests remained negative. Results: Bone marrow aspiration revealed epithelioid granulomas, initially leading to the provisional diagnosis of sarcoidosis. However, after six weeks, M. genavense was isolated from mycobacterial blood cultures from bone marrow aspirant. Antimicrobial therapy with azithromycin, rifampicin, and ethambutol was initiated. Following the initiation of appropriate antimycobacterial therapy, the patient developed immune reconstitution inflammatory syndrome (IRIS), which was managed with supportive care. The patient’s condition improved, and no further febrile episodes occurred post-treatment, marking the successful conclusion of NTM therapy. Conclusions: This case underscores the diagnostic complexity of extrapulmonary NTM infections, particularly in immunocompromised patients. Misdiagnosis can delay appropriate treatment. M. genavense, though rare, should be considered in patients with a fever of unknown origin, especially with a background of immunosuppression. Prompt mycobacterial testing and tailored antibiotic therapy are crucial to improving outcomes in NTM infections. Full article

Background/Objectives: The primary aim of our study was to evaluate the demographic, clinical, and laboratory characteristics of sarcoidosis patients with musculoskeletal symptoms; investigate the relationship between arthritis development and various laboratory parameters (such as vitamin D, liver enzymes, and ACE levels); and compare the sarcoidosis-associated arthritis cases with those without. We also explored the factors influencing arthritis development and the role of biopsy in diagnosing sarcoidosis within rheumatology practice. Methods: This retrospective study analyzed 147 sarcoidosis patients from 2000 to 2024, categorized by the presence (n = 45) or absence (n = 102) of arthritis. Demographic, clinical, and laboratory data, including biopsy results, were collected and compared. Results: The mean age was 56.02 ± 11.21 years, with a mean disease duration of 134.33 ± 56.98 months. Females constituted 86.4% of the cohort. All of the patients presented musculoskeletal involvement. Pulmonary involvement was present in 93.7% of cases, and extrapulmonary involvement included the skin (21.20%), the eyes (14.30%), and peripheral lymphadenopathy (10.6%). Methotrexate was the most common treatment after corticosteroids. In the arthritis group, diabetes mellitus was more frequent (p = 0.024), the GGT levels were higher (p = 0.044), and the 25-hydroxyvitamin D levels (p = 0.002) and the DLCO Adj (p = 0.039) were lower. Multivariable regression showed diabetes mellitus (p = 0.028, OR: 4.805, 95% CI: 1.025–22.518) and low 25-hydroxyvitamin D levels (p = 0.034, OR: 0.914, 95% CI: 0.841–0.993) as factors influencing arthritis development. The other parameters showed no significant differences. Conclusions: This study identified significant clinical, demographic, and laboratory differences between sarcoidosis patients with and without arthritis. The patients with sarcoidosis-associated arthritis exhibited a higher frequency of diabetes mellitus, lower levels of 25-hydroxyvitamin D, and elevated GGT levels. Additionally, the lower DLCO values in the patients with arthritis indicate a more severe impact on pulmonary function, underscoring the importance of comprehensive pulmonary evaluation in this subgroup. Full article

Sarcoidosis and Granulomatous and Lymphocytic Interstitial Lung Diseases (GLILD) are two rare entities primarily characterised by the development of Interstitial Lung Disease (ILD) in the context of systemic immune dysregulation. These two conditions partially share the immunological background and pathologic findings, with granuloma as the main common feature. In this narrative review, we performed a careful comparison between sarcoidosis and GLILD, with an overview of their main similarities and differences, starting from a clinical perspective and ending with a deeper look at the immunopathogenesis and possible target therapies. Sarcoidosis occurs in immunocompetent individuals, whereas GLILD occurs in patients affected by common variable immunodeficiency (CVID). Moreover, peculiar extrapulmonary manifestations and radiological and histological features may help distinguish the two diseases. Despite that, common pathogenetic pathways have been suggested and both these disorders can cause progressive impairment of lung function and variable systemic granulomatous and non-granulomatous complications, leading to significant morbidity, reduced quality of life, and survival. Due to the rarity of these conditions and the extreme clinical variability, there are still many open questions concerning their pathogenesis, natural history, and optimal management. However, if studied in parallel, these two entities might benefit from each other, leading to a better understanding of their pathogenesis and to more tailored treatment approaches. Full article

Background: Sarcoidosis is a multisystemic disease that is histologically characterized by non-caseating granulomas in one or more organs. Although hypercalcemia is commonly seen in sarcoidosis, clinically significant hypercalcemia as the initial presentation of sarcoidosis is exceedingly rare. Long-standing hypercalcemia can lead to several complications and needs to be adequately managed to prevent irreversible damage. Currently, there are no standard treatment guidelines for sarcoidosis-induced hypercalcemia, although glucocorticoids have often been used as first-line therapy. Case Report: We describe a 55-year-old male patient who presented with dull right upper quadrant abdominal pain and a 30-pound weight loss over one month. He was found to have severe hypercalcemia, which was treated with intravenous (IV) normal saline and intramuscular calcitonin. Imaging studies revealed hypodense lesions throughout the bilateral hepatic lobes, spleen, and bilateral kidneys, with no pathologic mediastinal, hilar, supraclavicular, or axillary lymphadenopathy or pulmonary parenchymal disease. A splenic biopsy confirmed extrapulmonary sarcoidosis. After initial discharge, the patient was re-admitted weeks later for severe hypercalcemia, which was successfully treated with the initiation of prednisone. Conclusions: In this report, we present an atypical case of isolated extrapulmonary sarcoidosis with severe hypercalcemia as the initial presentation, successfully treated with steroids. Full article

Sarcoidosis is a multifaceted and multisystemic inflammatory disorder, the etiology of which remains unknown. However, it has been suggested that an intricate interplay between genetic, environmental, and inflammatory factors may contribute to the development and progression of sarcoidosis. Although 30–50% of patients demonstrate extra-pulmonary manifestations, cardiac involvement is rare, affecting only 2–5% of cases. Diagnosis is often challenging, relying on the careful application of clinical judgment, histopathological evidence, and imaging biomarkers. In this literature review, we aim to provide a comprehensive overview of the current understanding of the genetic basis of sarcoidosis, the contribution to the pathogenesis of the disorder, and discuss the potential link between certain genetic variants and the development of cardiac sarcoidosis. Full article

Interlobular septa thickening (ILST) is a common and easily recognized feature on computed tomography (CT) images in many lung disorders. ILST thickening can be smooth (most common), nodular, or irregular. Smooth ILST can be seen in pulmonary edema, pulmonary alveolar proteinosis, and lymphangitic spread of tumors. Nodular ILST can be seen in the lymphangitic spread of tumors, sarcoidosis, and silicosis. Irregular ILST is a finding suggestive of interstitial fibrosis, which is a common finding in fibrotic lung diseases, including sarcoidosis and usual interstitial pneumonia. Pulmonary edema and lymphangitic spread of tumors are the commonly encountered causes of ILST. It is important to narrow down the differential diagnosis as much as possible by assessing the appearance and distribution of ILST, as well as other pulmonary and extrapulmonary findings. This review will focus on the CT characterization of the secondary pulmonary lobule and ILST. Various uncommon causes of ILST will be discussed, including infections, interstitial pneumonia, depositional/infiltrative conditions, inhalational disorders, malignancies, congenital/inherited conditions, and iatrogenic causes. Awareness of the imaging appearance and various causes of ILST allows for a systematic approach, which is important for a timely diagnosis. This study highlights the importance of a structured approach to CT scan analysis that considers ILST characteristics, associated findings, and differential diagnostic considerations to facilitate accurate diagnoses. Full article

Sarcoidosis is a non-necrotizing granulomatous inflammatory multisystemic disorder of unknown etiology. In children, as in adults, it can involve a few or all organ systems to a varying extent and degree, entailing multisystemic manifestations. Kidney involvement in pediatric-onset adult-type sarcoidosis is rare, with a wide range of renal manifestations, most of them related to calcium metabolism. Children with renal sarcoidosis tend to be more symptomatic than adults, although male patients have a higher prevalence. We present the case of a 10-year-old boy who presented with advanced renal failure with nephrocalcinosis and important hepatosplenomegaly. The diagnosis was established by histopathological examination, with consequent cortisone therapy and hemodialysis. This review emphasizes that sarcoidosis should be considered in the differential diagnosis of pediatric patients with acute kidney insufficiency or chronic kidney disease of an unknown etiology. As far as we know, this is the first study regarding extrapulmonary sarcoidosis in children from Romania. Full article

Background: Sarcoidosis is a systemic inflammatory disease characterized by non-caseating granulomas. In addition to the lungs as classical site of affection, extrapulmonary manifestations are common, for example in the cervical lymph nodes or the salivary glands. The aim of this investigation is the analysis of the long-term course of glandular symptoms and the sonographic evaluation of long-term salivary gland changes. Material and methods: All patients with a diagnosis of sarcoidosis over a period of 20 years in the departments of otorhinolaryngology, rheumatology, and pneumology were identified. In addition to clinical examinations and functional evaluation of the salivary glands, a sonographic examination of the salivary glands was carried out. The changes in the area of the salivary glands were assessed using B-mode sonography and different elastographic methods with appropriate scoring systems. Results: A total of 76 patients were included in the study (age 35.1 ± 21.6 years). Overall, 17 patients presented with salivary gland manifestation at the time of the initial diagnosis. Of these patients, 15 received steroid therapy, 6 were also treated with another drug, and 2 patients were not treated with drugs. The time span between initial diagnosis and follow-up was 88.2 months (±83.0). At the time of the initial diagnosis, 17/17 complained of swelling of the salivary glands, 9/17 of xerostomia, and 8/17 of pain in the area of the salivary glands. At the time of follow-up, 5/17 reported swelling of the salivary glands, 6/17 reported xerostomia, and 1/17 reported pain in the salivary gland area. Sonography showed sonomorphological abnormalities of the salivary glands only in individual cases, with only mild alterations on average. Conclusion: In summary, it can be observed that patients with initial symptoms in the area of the salivary glands, such as swelling or pain, also suffer more frequently from dry mouth and eyes. In all patients, however, these symptoms regressed over time. A previous diagnosis of sarcoidosis with involvement of the salivary glands only leads to permanent abnormalities in the area of the salivary glands in individual cases. Full article

Sarcoidosis is a multi-system disease of unknown etiology characterized by the formation of granulomas in various organs. It affects people of all ethnic backgrounds and occurs at any time of life but is more frequent in African Americans and Scandinavians and in adults between 30 and 50 years of age. Sarcoidosis can affect any organ with a frequency varying according to ethnicity, sex and age. Intrathoracic involvement occurs in 90% of patients with symmetrical bilateral hilar adenopathy and/or diffuse lung micronodules, mainly along the lymphatic structures which are the most affected system. Among extrapulmonary manifestations, skin lesions, uveitis, liver or splenic involvement, peripheral and abdominal lymphadenopathy and peripheral arthritis are the most frequent with a prevalence of 25–50%. Finally, cardiac and neurological manifestations which can be the initial manifestation of sarcoidosis, as can be bilateral parotitis, nasosinusal or laryngeal signs, hypercalcemia and renal dysfunction, affect less than 10% of patients. The diagnosis is not standardized but is based on three major criteria: a compatible clinical and/or radiological presentation, the histological evidence of non-necrotizing granulomatous inflammation in one or more tissues and the exclusion of alternative causes of granulomatous disease. Certain clinical features are considered to be highly specific of the disease (e.g., Löfgren’s syndrome, lupus pernio, Heerfordt’s syndrome) and do not require histological confirmation. New diagnostic guidelines were recently published. Specific clinical criteria have been developed for the diagnosis of cardiac, neurological and ocular sarcoidosis. This article focuses on the clinical presentation and the common differentials that need to be considered when appropriate. Full article

Sarcoidosis is a granulomatous disorder of unknown etiology characterized by noncaseating granulomas virtually in every organ and tissue. This finding represents the most important diagnostic clue to reach a correct definition of sarcoidosis, although the biopsy is invasive and has several risk procedures. Several efforts are made to suspect the diagnosis of sarcoidosis by combining noninvasive elements, in particular from imaging, though these findings are often nonspecific and reflect the wide multifactorial pathogenesis. Every effort should be made to obtain a detailed radiological picture that, if associated with a suggestive clinical picture, could avoid the need of biopsy in some specific cases. In this narrative review, we aim to describe main computed tomography (CT) features of pulmonary and abdominal sarcoidosis, by reporting strengths and limits of this technique, in particular for the identification of extrapulmonary, isolated disease. Full article

Sarcoidosis is a systemic disease of unknown etiology characterized by the presence of noncaseating granulomas that can occur in any organ, most commonly the lungs. Early and accurate diagnosis of sarcoidosis remains challenging because initial presentations may vary, many patients are asymptomatic, and there is no single reliable diagnostic test. Prognosis is variable and depends on epidemiologic factors, mode of onset, initial clinical course, and specific organ involvement. From a pathobiological standpoint, sarcoidosis represents an immune paradox, where an excessive spread of both the innate and the adaptive immune arms of the immune system is accompanied by a state of partial immune anergy. For all these reasons, the optimal treatment for sarcoidosis remains unclear, with corticosteroid therapy being the current gold standard for those patients with significantly symptomatic or progressive pulmonary disease or serious extrapulmonary disease. This review is a state of the art of clinical presentations and immunological features of sarcoidosis, and the current therapeutic approaches used to treat the disease. Full article

The aim of this work was to verify the correlations between different pulmonary morphological patterns and functional outcomes in sarcoidosis patients, using a validated score for the comparison between the high-resolution computed tomography (HRCT) of patients belonging to different imaging patterns. From the electronic database of the reference center for interstitial lung diseases of our University Hospital, we retrospectively selected 55 patients with a diagnosis of sarcoidosis according to the American Thoracic Society (ATS) criteria; we evaluated the initial HRCT examination and pulmonary function tests collected at baseline and after a year. Patients were divided into typical (48% of patients) and atypical (52%) HRCT patterns, and a computer tomography activity score (CTAS) was associated with each HRCT appearance detected; clinical history, impact of therapy, and extra-thoracic locations were also considered. We found that worsening of diffusing capacity for carbon monoxide (DLCO) is related to the CTAS (r = −0.20, p = 0.01), and there was an inverse correlation between the variation of forced vital capacity (FVC) and the value of the CTAS (r = −0.30, p = 0.23) in the subgroup of patients with atypical patterns. CTAS were higher in patients with extra-pulmonary localizations (p = 0.05) and the subgroup of patients with extra-thoracic locations and atypical manifestations had a greater worsening in terms of variation of FVC (p = 0.03) and DLCO% (p = 0.04). No difference between treated and untreated patients was found. Full article

Sarcoidosis is an inflammatory disease of unknown etiology. Most commonly it results in the formation of non-caseating granulomas in intrathoracic lymph nodes and lung parenchyma, but the clinical course and picture may be complicated by extrapulmonary involvement and many non-respiratory signs and symptoms which are directly related to the disease. In addition, sarcoidosis patients may suffer from a plethora of symptoms of uncertain or unknown origin. Fatigue is one of these symptoms, and according to some authors it is reported by the majority of patients with active sarcoidosis, but also by a smaller proportion of patients with inactive sarcoidosis, or even with complete clinical and radiological remission. Therefore the term fatigue syndrome is frequently used to name this clinical problem. The definition of fatigue syndrome in sarcoidosis is imprecise and the syndrome is usually recognized by use of validated questionnaires. In this review the uptodate knowledge in this field was presented and different challenges connected with this syndrome were described. Full article

Introduction: The aim of this study was to analyze the diagnostic potential of contrast enhanced ultrasound (CEUS) for the recognition of focal lesions of the spleen and liver in patients suffering from sarcoidosis. Material and methods: We analyzed the outcome of diagnostic imaging in a group of 21 patients treated for pulmonary sarcoidosis, searching for the systemic infiltration of the liver and/or spleen. All the participants are patients with inactive disease, who are monitored every 6 months at the Pulmonology Clinic. Apart from the check-up high-resolution computed tomography (HR-CT)—every 2 years, patients underwent an initial ultrasound examination (US) and if there was a suspicion of systemic infiltration, abdominal CT and/or magnetic resonance imaging (MRI) and CEUS were performed. Results: In 18 patients suffering from pulmonary sarcoidosis diagnostic imaging revealed no systemic infiltration. In three patients, the use of CEUS exposed the presence of lesions in the parenchymal organs. In all cases, the images from CEUS were consistent with those from CT/MRI. Conclusions: CEUS has the potential to become a reliable and safe screening tool for systemic infiltration in patients with sarcoidosis. It may also be an important method of monitoring the effects of therapy. Full article