Diagnosis Of Sarcoidosis Research Articles

Correction to: Diagnosis and Management of Cardiac Sarcoidosis: A Scientific Statement From the American Heart Association.

Correction to: Diagnosis and Management of Cardiac Sarcoidosis: A Scientific Statement From the American Heart Association.

Rate of subsequent diagnosis of sarcoidosis after pacemaker implantation for atrioventricular block: an analysis of a nationwide epidemiological dataset.

Rate of subsequent diagnosis of sarcoidosis after pacemaker implantation for atrioventricular block: an analysis of a nationwide epidemiological dataset.

Autoimmune disorders in patients with granulomatosis diseases after COVID-19: T- and B-cells subsets function

Sarcoidosis and tuberculosis are both granulomatous diseases that have many similarities, making the differential diagnosis of sarcoidosis and tuberculosis difficult, as well as leading to inappropriate treatment selection of both diseases. Autoimmune inflammation (AI) is one of the processes identified tuberculosis and sarcoidosis. Current evidences about the risk and clinical outcomes of COVID-19 infection in patient with sarcoidosis and M. tuberculosis co-infection are still not well understood. SARS-CoV-2 has direct damage to the epithelial cells of the respiratory system, and in-directly due to circulatory disorders. Materials and methods. In the study we analyzed characteristics of autoimmune response in patients with granulomatosis diseases (tuberculosis and sarcoidosis) after COVID-19. We have analyzed articles for the period of December 2019 to March 2023, published in international database (“Medline”, “PubMed”, “Scopus”). The keywords we used “COVID-19”, “SARS-CoV-2”, “tuberculosis”, “sarcoidosis”, “granulomatosis diseases”, “T cells”, “B cells”, “Treg”, “follicular Treg” and “Treg subsets”. The narrative review was carried out in accordance with the PRISMA protocol (http://www.prisma-statement.org) used for this type of study (ID-423604). Results. The influence of COVID-19 infection can also make a significant contribution to the violation of the T- and B-cell immune response, the violation of the nature of cellular metabolism, which will affect the course of granulomatous inflammation in various ways. According to the different researches, autoimmune inflammation can be an important protective mechanism in sarcoidosis and, at the same time, exacerbates the course of tuberculosis infection with the disease progression and pathogen drug resistance formation subsequently. The study of immune response features in patients with COVID-19 showed the presence of several similar characteristics in cellular components of the immune response. Conclusion. Evidence of the presence of autoimmune inflammation in patients with these granulomatous lung diseases, the development of patient immunotypes, including the transferred COVID-19, will be a significant contribution to the development of personalized patient management tactics, taking into account the identified violations of the immune response mechanisms.

B-cell lymphoma of the skin: clinical observation

Currently, there is an increase and an increase in the incidence of primary skin lymphomas worldwide. B-cell cutaneous lymphomas account for 25–30% of primary skin lymphomas. Among all skin lymphomas, primary cutaneous lymphoma from follicular center cells occurs in 10–11% of cases and is characterized by great diagnostic difficulties due to the great similarity of clinical manifestations with other dermatoses, such as benign lymphoplasia, Beck's sarcoidosis, Jessner–Kanof lymphocytic infiltration, skin metastases. This paper presents a clinical case of B-cell lymphoma in a 29-year-old woman with a lesion of the facial skin in the form of a node, initially incorrectly interpreted as benign lymphoplasia. For five years, the patient received therapy with topical glucocorticosteroids with no effect from. Subsequently, histological examination and immunohistochemistry were performed for the purpose of differential diagnosis of sarcoidosis with B-cell lymphoma. Histologically, there is nodular proliferation of atypical lymphoid cells in the dermis, most of which have cytological characteristics of a centrocyte with an admixture of a small number of central blasts. Nodular proliferates contain an admixture of compactly arranged small lymphocytes. There are no signs of epidermotropism. During immunohistochemical examination, cells forming nodular proliferates express CD20, bc16 with an index of proliferative activity for the expression of nuclear protein K167 ― 20–30%, a dissociated network of follicular dentritic cells expressing CD21 is determined at the base of nodular proliferates. They are not expressed by bc12, CD3, CD2, CD5 proliferate cells. CD117 is expressed by an admixture of discretely distributed mast cells. The morphological picture corresponds to primary cutaneous centrofollicular lymphoma. The node was excised. Radiation therapy was not prescribed due to the patient's pregnancy. This clinical observation highlights the importance of considering the diagnosis of lymphoma in the differential diagnosis of treatment-resistant dermatological diseases.

Multi-omic signatures of sarcoidosis and progression in bronchoalveolar lavage cells

BackgroundSarcoidosis is a heterogeneous granulomatous disease with no accurate biomarkers of disease progression. Therefore, we profiled and integrated the DNA methylome, mRNAs, and microRNAs to identify molecular changes associated with sarcoidosis and disease progression that might illuminate underlying mechanisms of disease and potential biomarkers.MethodsBronchoalveolar lavage cells from 64 sarcoidosis subjects and 16 healthy controls were used. DNA methylation was profiled on Illumina HumanMethylationEPIC arrays, mRNA by RNA-sequencing, and miRNAs by small RNA-sequencing. Linear models were fit to test for effect of sarcoidosis diagnosis and progression phenotype, adjusting for age, sex, smoking, and principal components of the data. We built a supervised multi-omics model using a subset of features from each dataset.ResultsWe identified 1,459 CpGs, 64 mRNAs, and five miRNAs associated with sarcoidosis versus controls and four mRNAs associated with disease progression. Our integrated model emphasized the prominence of the PI3K/AKT1 pathway, which is important in T cell and mTOR function. Novel immune related genes and miRNAs including LYST, RGS14, SLFN12L, and hsa-miR-199b-5p, distinguished sarcoidosis from controls. Our integrated model also demonstrated differential expression/methylation of IL20RB, ABCC11, SFSWAP, AGBL4, miR-146a-3p, and miR-378b between non-progressive and progressive sarcoidosis.ConclusionsLeveraging the DNA methylome, transcriptome, and miRNA-sequencing in sarcoidosis BAL cells, we detected widespread molecular changes associated with disease, many which are involved in immune response. These molecules may serve as diagnostic/prognostic biomarkers and/or drug targets, although future testing is required for confirmation.

Meta-analysis of [18F]FDG-PET/CT in pulmonary sarcoidosis.

18F-Fluorodeoxyglucose (FDG) PET/CT is emerging as a tool in the diagnosis and evaluation of pulmonary sarcoidosis, however, there is limited consensus regarding its diagnostic performance and prognostic value. A meta-analysis was conducted with PubMed, Science Direct, MEDLINE, Scopus, and CENTRAL databases searched up to and including September 2023. 1355 studies were screened, with seventeen (n = 708 patients) suitable based on their assessment of the diagnostic performance or prognostic value of FDG-PET/CT. Study quality was assessed using the QUADAS-2 tool. Forest plots of pooled sensitivity and specificity were generated to assess diagnostic performance. Pooled changes in SUVmax were correlated with changes in pulmonary function tests (PFT). FDG-PET/CT in diagnosing suspected pulmonary sarcoidosis (six studies, n = 400) had a pooled sensitivity of 0.971 (95%CI 0.909-1.000, p = < 0.001) and specificity of 0.873 (95%CI 0.845-0.920)(one study, n = 169). Eleven studies for prognostic analysis (n = 308) indicated a pooled reduction in pulmonary SUVmax of 4.538 (95%CI 5.653-3.453, p = < 0.001) post-treatment. PFTs displayed improvement post-treatment with a percentage increase in predicted forced vital capacity (FVC) and diffusion capacity of the lung for carbon monoxide (DLCO) of 7.346% (95%CI 2.257-12.436, p = 0.005) and 3.464% (95%CI -0.205-7.132, p = 0.064), respectively. Reduction in SUVmax correlated significantly with FVC (r = 0.644, p < 0.001) and DLCO (r = 0.582, p < 0.001) improvement. In cases of suspected pulmonary sarcoidosis, FDG-PET/CT demonstrated good diagnostic performance and correlated with functional health scores. FDG-PET/CT may help to guide immunosuppression in cases of complex sarcoidosis or where treatment rationalisation is needed. FDG-PET/CT has demonstrated a high diagnostic performance in the evaluation of suspected pulmonary sarcoidosis with radiologically assessed disease activity correlating strongly with clinically derived pulmonary function tests. In diagnosing pulmonary sarcoidosis, FDG-PET/CT had a sensitivity and specificity of 0.971 and 0.873, respectively. Disease activity, as determined by SUVmax, reduced following treatment in all the included studies. Reduction in SUVmax correlated with an improvement in functional vital capacity, Diffusion Capacity of the Lungs for Carbon Monoxide, and subjective health scoring systems.

Hypercalcaemia in gastrointestinal stromal tumour and sarcoidosis: a case report

BackgroundHypercalcaemia is a common manifestation of sarcoidosis but is sparingly described in gastrointestinal stromal tumours (GISTs). We describe a case of acute kidney injury and hypercalcemia resulting from simultaneous diagnosis of GIST and sarcoidosis, the presentation of which has not yet been reported.Case PresentationA 61-year-old male presented with acute kidney injury and hypercalcemia, with elevated 1,25-dihydroxyvitamin D levels. Investigations demonstrated a large gastric antral mass which was resected and proven to be GIST. Histopathology of incidentally found liver nodules revealed non-necrotising epithelioid granulomas consistent with concomitant sarcoidosis. The hypercalcemia was successfully treated with bisphosphonate therapy, resection of the GIST and a four month course of corticosteroids, which was truncated due to a mycobacterial infection.ConclusionsOur case report is the first to describe hypercalcemia due to GIST and biopsy-proven sarcoidosis, thereby raising the possibility of a common pathophysiological pathway relating the two entities. We review the literature describing the mechanisms of hypercalcaemia in GIST and the association between GIST and sarcoidosis.

Cardiac Sarcoidosis: Utilizing Cardiac MRI and PET-CT.

Cardiac sarcoidosis is an inflammatory condition that has been associated with deleterious cardiac manifestations. The diagnosis of cardiac sarcoidosis is challenging and can be guided by advanced cardiac imaging. Endomyocardial biopsy lacks sensitivity in confirming a diagnosis of cardiac sarcoidosis. Studies have shown that the use of cardiac magnetic resonance imaging (MRI) and cardiac Positron Emission Testing (PET) are associated with increased sensitivity and specificity in the diagnosis of cardiac sarcoidosis. Cardiac MRI and cardiac PET CT, although distinct entities, are complimentary in the diagnosis, prognostication of major cardiac events, and aid in the treatment algorithm in patients with cardiac sarcoidosis.

Temporal relationship between sarcoidosis and malignancies in a nationwide cohort of 1942 patients.

To investigate the phenotype of sarcoidosis according to the time when a malignancy is diagnosed (preexisting to the diagnosis of sarcoidosis, concomitant, or sequential) and to identify prognostic factors associated with malignancies in a large cohort of patients with sarcoidosis. We searched for malignancies in the SARCOGEAS cohort, a multicenter nationwide database of consecutive patients diagnosed with sarcoidosis according to the ATS/ESC/WASOG criteria. Solid malignancies were classified using the International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) nomenclature, and hematological malignancies using the 2016 WHO classification. We excluded patients with a biopsy-proven diagnosis of sarcoidosis based exclusively on demonstrating granulomas in tissues also involved by malignant cells. Out of 1942 patients with sarcoidosis, 233 (12%) developed 250 malignancies, including solid (n= 173), hematological (n= 57), and both types of malignancies (n= 3). Concerning the time interval between the diagnoses of both conditions, 83 (36%) patients were diagnosed with malignancy at least 1 year before sarcoidosis diagnosis, 22 (9%) had s synchronous diagnosis of both diseases, and 118 (51%) developed malignancies at least 1 year after the diagnosis of sarcoidosis (the remaining cases developed malignancies in different time intervals). The multivariate-adjusted model showed that individuals with sarcoidosis who developed a malignancy had an hazard ratio (HR) of 2.27 [95% confidence interval (CI), 1.62-3.17] for having an asymptomatic clinical phenotype at diagnosis of sarcoidosis and that spleen (presence vs. absence: HR = 2.06; 95% CI, 1.21-3.51) and bone marrow (presence vs. absence: HR = 3.04; 95% CI, 1.77-5.24) involvements were independent predictors for the development of all-type malignancies. No predictive factors were identified when the analysis was restricted to the development of solid malignancies. The analysis limited to the development of hematological malignancies confirmed the presence of involvement in the spleen (HR = 3.73; 95% CI, 1.38-10.06) and bone marrow (presence vs. absence: HR = 8.00; 95% CI, 3.15-20.35) at the time of sarcoidosis diagnosis as predictive factors. It is essential to consider the synchronous or metachronous timing of the diagnosis of malignancies in people with sarcoidosis. We found that half of the malignancies were diagnosed after a diagnosis of sarcoidosis, with spleen and bone marrow involvement associated with a four to eight times higher risk of developing hematological malignancies. Key messages What is already known on this topic Malignancies are one of the comorbidities more frequently encountered in people with sarcoidosis What this study adds Malignancies occur in 12% of patients with sarcoidosis Malignancy may precede, coincide with, or follow the diagnosis of sarcoidosis One-third were identified before sarcoidosis, and half were diagnosed after Spleen and bone marrow involvement are risk factors for developing hematological malignancies How this study might affect research, practice or policy Patients with sarcoidosis should be regularly monitored for neoplasms, informed of the increased risk, and educated on early detection. Those with spleen or bone marrow involvement must be closely followed.

Sarcoidosis Diagnostic Score (SDS) system: Impact of race, sex, organ involvement and duration of symptoms prior to diagnosis

BackgroundThe Sarcoidosis Diagnostic Score (SDS) system has been established for sarcoidosis patients based on the WASOG organ involvement criteria. We evaluated modifications of the SDS system to determine if they improved its the diagnostic accuracy. MethodsBiopsy-confirmed patients with sarcoidosis seen during a 7-month period at 9 sarcoidosis centers across the world. Patients with non-sarcoidosis seen at the same sites were served as control patients. Comparing the SDS-biopsy and SDS-clinical values of five groups: duration of symptoms prior to evaluation (≤1 years vs.>1 years, ≤2 years vs.>2 years), organ involvement (lung, eye, or cardiac), race, and sex. ResultsA total of 990 patients with sarcoidosis and 1011 controls were included in this study. The SDS-clinical was significantly more discriminating for those undergoing assessment with symptoms for more than one year (z-statistic=2.570, p = 0.0102) or two years (z-statistic=2.546, p = 0.0109). However, the addition of two points for both >1 years and >2 years since onset of symptoms did not increase sensitivity and specificity of diagnosis with the SDS system. The SDS-clinical cut-off for patients with ocular or cardiac disease was two points higher than that for lung disease. There was no difference in SDS-clinical or biopsy AUC values based on gender or race. ConclusionsThe longer the duration of symptoms prior to diagnosis, the more likely the diagnosis of sarcoidosis was correct. For patients presenting with ocular or cardiac symptoms, evidence of multi-organ involved can improve the diagnostic accuracy of the SDS-clinical.

Cardiac sarcoidosis and neurosarcoidosis - multidisciplinary approach for diagnosis.

The current review aims to highlight the role of multidisciplinary approach in the diagnosis of patients with cardiac and neurosarcoidosis. Multidisciplinary approach integrates the available clinical information, imaging and histopathological results aiming to reach a definite or at least provisional diagnosis and allow appropriate management. Multidisciplinary approach is the reference standard for diagnosis of interstitial lung disease and should be strongly considered in complex clinical conditions such as cardiac sarcoidosis (CS) and neurosarcoidosis. Histopathological confirmation of noncaseating granulomatous inflammation provides a definite diagnosis of sarcoidosis involving any organ. However, a provisional high confidence or even definite clinical diagnosis can be reached using multidisciplinary evaluation of all available evidence. The diagnosis of cardiac sarcoidosis and neurosarcoidosis requires the integration of different expertise based on the current diagnostic criteria sets. Identifying typical or at least compatible patterns on advanced imaging modalities (CMR and Fluro-Deoxy-Glucose Positron Emission Tomography (FDG-PET)) seems key for the diagnosis of CS, while a confident diagnosis of extra-cardiac disease supports an at least provisional diagnosis. Similarly, in neurosarcoidosis integrating compatible MRI appearances and cerebrospinal fluid results in patients with systemic sarcoidosis allows an at least provisional diagnosis. Exclusion of alternative differential diagnoses is crucial and requires high clinical suspicion, imaging review expertise and appropriate tests performance. There have been considerable advances in the diagnostic approach of patients with cardiac and neurosarcoidosis. Multidisciplinary approach for both diagnosis and management is required to reach a confident clinical diagnosis and should be applied when possible.

САРКОИДОЗ, ТРУДНОСТИ ДИАГНОСТИКИ

The incidence of sarcoidosis in Russia has not been studied enough. The clinical signs of sarcoidosis are diverse, and the lack of specific diagnostic tests makes noninvasive diagnosis difficult. In general therapeutic practice, in the case of an atypical course of the disease, diagnosis is complicated by the need for a differential diagnosis with many syndrome-like diseases. The etiology of sarcoidosis is still unknown. According to recent concepts, the cause of its occurrence cannot be considered a single factor, it is a combination of genetic, environmental, infectious and immunological causes. In this article, the author examines the main difficulties faced by doctors in the diagnosis of sarcoidosis. The clinical manifestations of the disease are analyzed, as well as methods of its detection, such as bronchoscopy, biopsy and laboratory tests. Possible diagnostic errors and how to avoid them are also considered. Understanding these difficulties will help improve the diagnosis and treatment of sarcoidosis, leading to more effective disease management.

A framework for exclusion of alternative diagnoses in sarcoidosis

Sarcoidosis is a multisystem granulomatous syndrome that arises from a persistent immune response to a triggering antigen(s). There is no “gold standard” test or algorithm for the diagnosis of sarcoidosis, making the diagnosis one of exclusion. The presentation of the disease varies substantially between individuals, in both the number of organs involved, and the manifestations seen in individual organs. These qualities dictate that health care providers diagnosing sarcoidosis must consider a wide range of possible alternative diagnoses, from across a range of presentations and medical specialties (infectious, inflammatory, cardiac, neurologic). Current guideline-based diagnosis of sarcoidosis recommends fulfillment of three criteria: 1) compatible clinical presentation and/or imaging 2) demonstration of granulomatous inflammation by biopsy (when possible) and, 3) exclusion of alternative causes, but do not provide guidance on standardized strategies for exclusion of alternative diagnoses. In this review, we provide a summary of the most common differential diagnoses for sarcoidosis involvement of lung, eye, skin, central nervous system, heart, liver, and kidney. We then propose a framework for testing to exclude alternative diagnoses based on pretest probability of sarcoidosis, defined as high (typical findings with sarcoidosis involvement confirmed in another organ), moderate (typical findings in a single organ), or low (atypical/findings suggesting of an alternative diagnosis). This work highlights the need for informed and careful exclusion of alternative diagnoses in sarcoidosis.

Vitiligo Associated With Sarcoidosis: Case Based Review

Sarcoidosis is characterized by non-caseating granulomatous inflammation that predominantly affects the lungs. Cutaneous involvement occurs in 20 to 35 percent of the patients and may emerge as the initial manifestation of the disease. Erythema nodosum and lupus pernio are the specific skin manifestations of cutaneous sarcoidosis. Many different skin lesions including hypopigmentation or hyperpigmentation that mimic other primary skin and systemic diseases may occur in sarcoidosis patients. Cutaneous involvement always poses a diagnostic dilemma in all patients with or without a previous sarcoidosis diagnosis. In this review, we present two sarcoidosis patients who subsequently developed vitiligo. The main aim is to discuss the underlying pathologic mechanisms of sarcoidosis associated with vitiligo and to define the potential relationship between these two autoimmune disorders. The second target is to specify a diagnostic pathway in sarcoidosis patients associated with skin involvement in the light of the current literature data.

Air pollution and incident sarcoidosis in central Pennsylvania

ABSTRACT Sarcoidosis is a chronic granulomatous disease predominantly affecting the lungs and inducing significant morbidity and elevated mortality rate. The etiology of the disease is unknown but may involve exposure to an antigenic agent and subsequent inflammatory response resulting in granuloma formation. Various environmental and occupational risk factors have been suggested by previous observations, such as moldy environments, insecticides, and bird breeding. Our study investigated the association of air pollution with diagnosis of sarcoidosis using a case-control design. Penn State Health electronic medical records from 2005 to 2018 were examined for adult patients with (cases) and without (controls) an International Classification of Disease (ICD)-9 or −10 code for sarcoidosis. Patient addresses were geocoded and 24-hr residential-level air pollution concentrations were estimated using spatio-temporal models of particulate matter <2.5 μm (PM2.5), ozone, and PM2.5 elemental carbon (EC) and moving averages calculated. In total, 877 cases and 34,510 controls were identified. Logistic regression analysis did not identify significant associations between sarcoidosis incidence and air pollution exposure estimates. However, the odds ratio (OR) for EC for exposures occurring 7–10 years prior did approach statistical significance, and ORs exhibited an increasing trend for longer averaging periods. Data suggested a latency period of more than 6 years for PM2.5 and EC for reasons that are unclear. Overall, results for PM2.5 and EC suggest that long-term exposure to traffic-related air pollution may contribute to the development of sarcoidosis and emphasize the need for additional research and, if the present findings are substantiated, for public health interventions addressing air quality as well as increasing disease surveillance in areas with a large burden of PM2.5 and EC.

Osteoporotic bone fracture risk assessment in Latvian patients with newly diagnosed sarcoidosis.

Increased calcitriol synthesis in sarcoid granulomas with subsequent hypercalcaemia and hypercalciuria can affect bone metabolism in patients with sarcoidosis. Multiple factors can increase the fracture risk in patients with sarcoidosis. This study aimed to evaluate a 10-year osteoporotic and a 10-year hip fracture risk and to analyse factors affecting fracture risk for patients with newly diagnosed sarcoidosis compared to an age- and gender-matched control group from a real-world setting. The cross-sectional study included 171 patients with a histologically verified diagnosis of sarcoidosis who were hospitalised due to suspected sarcoidosis within two years and an age- and gender-matched control group of 178 hospitalised individuals. QFracture algorithm questions were asked during interviews. A cohort of 349 subjects was analysed. The median age in the patient group was 40 years (IQR:20), and 60.2% were female. 21.6% of patients with sarcoidosis had at least one comorbidity that could potentially influence the osteoporotic fracture risk. Both the median 10-year osteoporotic fracture risk (0.9% (IQR:2) vs 1.3% (IQR:2.3), p=0.005; U=12394) and a 10-year hip fracture risk (0.1% (IQR:0.3) vs 0.2% (IQR:0.5), p=0.003; U=12368.5) was lower in patients with sarcoidosis compared to control group subjects. As compared to the control group, individuals with sarcoidosis exhibited a lower frequency of both osteoporotic (2.4% vs 11.2%, OR=0.189 (95% CI:0.063-0.566), p=0.003) and low-energy trauma fractures (2.9% vs 11.8%, OR=0.225 (95% CI:0.083-0.612), p=0.003) in personal medical history. This was the first study to investigate osteoporotic fracture risk and related factors in Latvian patients with newly diagnosed sarcoidosis. Our data show a lower risk of a 10-year osteoporotic and a 10-year hip fracture risk in patients with sarcoidosis compared to age- and gender-matched control group subjects from a real-world setting.

The role for endobronchial biopsy in the era of endobronchial ultrasound guided transbronchial needle aspiration for the diagnosis of sarcoidosis: a single center experience.

Endobronchial biopsy (EBBX) has been reported to increase diagnostic yield for pulmonary sarcoidosis. The purpose of this study is to investigate the diagnostic yield for EBBX following endobronchial ultrasound guided transbronchial needle aspiration (EBUS-TBNA). We identified a cohort of patients in the University of Minnesota Sarcoidosis Registry who had EBBx and EBUS-TBNA as part of workup for abnormal chest imaging. Data regarding demographics, biopsy approach and technique were recorded. Our cohort included 37 patients (53.24±9.5, Male, 22±0.57; 3.8% were African American). In these patients who had EBBX, EBUS-TBNA was performed in 100% of patients and TBBX was performed in 2 patients (5%). EBBX was positive in 9 patients (24%) and EBUS-TBNA was positive in 34 patients (92%). TBBX was diagnostic in one of two patients. EBBX was the only diagnostic tissue in 3 of the 37 patients (8%). Conclusion: The diagnostic yield of EBBX is lower than previously reported, with only 8% of EBBXs demonstrating granulomatous inflammation. However, instrumentation used for obtaining EBBX as well as the presence of visible lesions does influence the diagnostic yield. Studies with adequate power are needed before implementing changes in clinical practice. When performed alongside EBUS-TBNA, EBBX did not significantly add to the diagnostic yield in sarcoidosis unless visible lesions were observed.

Development and validation of a claims-based algorithm to identify patients with Neuromyelitis Optica Spectrum disorder

IntroductionNo validated algorithm exists to identify patients with neuromyelitis optica spectrum disorder (NMOSD) in healthcare claims data. We developed and tested the performance of a healthcare claims–based algorithm to identify patients with NMOSD. MethodsUsing medical record data of 101 adults with NMOSD, multiple sclerosis (MS), or myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), we tested the sensitivity and specificity of claims-based algorithms developed through interviews with neurologists. We tested the best-performing algorithm's face validity using 2016–2019 data from IBM MarketScan Commercial and Medicare Supplemental databases. Demographics and clinical characteristics were reported. ResultsAlgorithm inclusion criteria were age ≥ 18 years and (≥1 NMO diagnosis [or ≥ 1 transverse myelitis (TM) and ≥ 1 optic neuritis (ON) diagnosis] and ≥ 1 NMOSD drug) or (≥2 NMO diagnoses ≥90 days apart). Exclusion criteria were MS diagnosis or use of MS-specific drug after last NMO diagnosis or NMOSD drug; sarcoidosis diagnosis after last NMO diagnosis; or use of ≥1 immune checkpoint inhibitor. In medical record billing data of 50 patients with NMOSD, 30 with MS, and 21 with MOGAD, the algorithm had 82.0% sensitivity and 70.6% specificity. When applied to healthcare claims data, demographic and clinical features of the identified cohort were similar to known demographics of NMOSD. ConclusionsThis clinically derived algorithm performed well in medical records. When tested in healthcare claims, demographics and clinical characteristics were consistent with previous clinical findings. This algorithm will enable a more accurate estimation of NMOSD disease burden using insurance claims datasets.

A Case of Ocular Sarcoidosis with an Atypical Presentation of Subretinal Mass

Purpose: To describe a case of ocular sarcoidosis manifesting as an atypical subretinal mass.Case summary: A 59-year-old woman reported reduced visual acuity in her left eye lasting for 1 month. Her best corrected visual acuity in the left eye had diminished to 0.3. A fundus examination revealed a whitish elevated lesion, approximately one disc diameter in size, in the perimacular area of the left eye. Optical coherence tomography identified a hyporeflective oval-shaped mass in the choriocapillaris region accompanied by subretinal fluid. Initial assessment suggested choroidal osteoma with choroidal neovascularization. Consequently, the patient underwent two intravitreal bevacizumab injections, which did not lead to improvement. To rule out systemic diseases, including syphilis, tuberculosis, and sarcoidosis, further radiologic and laboratory tests were conducted. A chest computed tomography highlighted mediastinal lymph node enlargement and pervasive nodules in both lung parenchymata, and serum angiotensin-converting enzyme levels were elevated to 77 U/L. Based on these findings, a diagnosis of sarcoidosis was confirmed, and the patient commenced treatment with oral prednisolone. Eight weeks after treatment, the subretinal lesion and fluid had resolved, and the best corrected visual acuity in the patient’s left eye had improved to 0.9.Conclusions: Ocular sarcoidosis can manifest as a subretinal mass. This presentation should be differentiated from other subretinal lesions.

Imaging findings in a rare case of alveolar, hepatic and splenic sarcoidosis presenting with thrombotic thrombocytopenic purpura

Thrombotic thrombocytopenic purpura (TTP) is an acute haematological disorder characterized by severe ADAMTS13 enzyme deficiency, leading to consumptive thrombocytopenia, mechanical haemolysis, and organ damage. Its association with multisystemic sarcoidosis is extremely rare and, to the best of our knowledge, described in only two cases so far. We present the case of a 52-year-old woman with TTP and antibodies anti-ADAMTS13, showing computed tomography (CT) and magnetic resonance imaging (MRI) evidence of pulmonary, hepatic, and splenic lesions initially reported as ischemic/inflammatory changes. A follow-up MRI of the abdomen revealed increased evidence of the liver lesions, focal intrahepatic bile duct dilatation, splenic lesions, and enlarged hepatic hilar nodes. The follow-up chest CT showed increased evidence of the parenchymal lung consolidations. Given the radiological persistence of those alterations and the history of TTP, the hypothesis of an IgG4-related disease was then made. The IgG4 levels were found to be normal, while the histological examination of the liver revealed non-necrotizing granulomatous chronic inflammation. Elevated levels of angiotensin-converting enzyme were found, and the QuantiFERON-TB Gold test was negative for tuberculosis infection. Thus, the overall clinical picture was consistent with multisystemic sarcoidosis (alveolar, hepatic, and splenic). The diagnosis of sarcoidosis, already challenging due to the variability of its clinical presentation, can become even more complicated when it manifests with uncommon haematological manifestations such as TTP, along with non-specific extra-pulmonary involvement. While imaging aids in documenting organ damage, the definitive diagnosis of sarcoidosis necessitates histologic confirmation of noncaseating granulomas and the exclusion of other possible granulomatous diseases.