Rare and common manifestation of musculoskeletal and sinonasal sarcoidosis: A case report.

Sarcoidosis is a systemic granulomatous disease that can affect multiple organ systems. Although many sarcoidosis patients are asymptomatic, the variable clinical progression of symptomatic patients and the nonspecific presentation make diagnosis difficult in certain cases. Musculoskeletal and sinonasal involvement of sarcoidosis are uncommon manifestations, and they are often only seen in patients with widespread disease. Diagnosis of osseous sarcoidosis, sarcoid arthropathy, and sarcoid rhinosinusitis are typically based on a combination of clinical history, radiological findings, and pathologic specimens. Although there are classic image findings, such as lacelike honeycomb appearance of small bones of the hands or hilar/mediastinal lymphadenopathy, sole reliance on image findings for the diagnosis of sarcoidosis is unreasonable as many findings are nonspecific. However, failure to include sarcoidosis in the differential diagnosis often leads to a delay in recognition of musculoskeletal or sinonasal involvement and results in ineffective treatment plan. Even in patients with biopsy-proven sarcoidosis, some image findings in isolation that may represent granulomatous infiltrates are disregarded as nonspecific without raising the possibility of sarcoidosis due to its rare occurrence. Here we discuss a case of multisystemic sarcoidosis in a 42-year-old female with a constellation of classic and rare findings of biopsy-proven sarcoidosis.

Necrotizing Sarcoid Granulomatosis With Hepatic Involvement and Reversible Noncirrhotic Portal Hypertension.

Necrotizing sarcoid granulomatosis falls within the spectrum of sarcoidosis and is characterized by features of necrosis and granulomatous vasculitis. Like classical sarcoidosis, it can affect numerous organ systems, and there is a wide range of disease activity. Few cases of necrotizing sarcoid granulomatosis have been reported in the liver. We present a case of necrotizing sarcoid granulomatosis associated with noncirrhotic portal hypertension.

Clinical Outcomes of Transcatheter Aortic Valve Replacement (TAVR) vs Surgical Aortic Valve Replacement (SAVR) in Patients With Sarcoidosis.

Introduction Data regarding clinical outcomes after transcatheter aortic valve replacement (TAVR) vs surgical aortic valve replacement (SAVR) in patients with sarcoidosis is lacking. This study aims to clarify the clinical outcomes of TAVR vs SAVR in patients with sarcoidosis. Methods Data was collected from the National Inpatient Sample database from 2016-2019 using validated ICD-10-CM codes for sarcoidosis, TAVR, and SAVR. Patients were divided into two cohorts: those who underwent TAVR and those who underwent SAVR. Statistical analysis was performed using Pearson's chi-squared test to determine clinical outcomes of TAVR vs SAVR in patients with sarcoidosis. Results The prevalence of sarcoidosis was 0.23% among total study patients (n=142,420,378). After exclusions, the prevalence of TAVR was 650 (49%) and SAVR was 675 (51%) in patients with sarcoidosis. Patients who underwent TAVR were on average older (74 vs 65 years old, p=0.001), and more likely to be female (57 vs 40%, p<0.001) compared to patients who underwent SAVR. The TAVR cohort had higher rates of congestive heart failure (CHF) (77.7 vs 42.2%, p=0.001), chronic kidney disease (CKD) (42.3 vs 24.4% p=0.001), anemia (5.4 vs 2.2%, p=0.004), percutaneous coronary intervention (PCI) (1.5 vs 0%, p=0.004), and hypothyroidism (31.5 vs 16.3%, p=0.001) compared to the SAVR cohort. Inpatient mortality post-procedure was higher in the SAVR cohort compared to the TAVR cohort (15 vs 0, p=0.001). Regarding post-procedure complications, respiratory complications were more common in the SAVR cohort (4.4 vs 0%, p=0.001), while TAVR was associated with a higher incidence of permanent pacemaker (PPM) insertion (2.15 vs 0.8%, p=0.001). There was no statistical difference in the development of acute kidney injury (AKI) (0.8 vs 1.5%, p=0.33), AKI requiring hemodialysis (0 vs. 0.7%, p=0.08), or stroke (0.8 vs 0.7, p=1) post-procedure between the two cohorts. Conclusion This study found that in the sarcoidosis population, TAVR was associated with reduced mortality, shorter hospital length of stay, and lower hospitalization costs in comparison to SAVR.

Hypercalcemia Secondary to Calcitriol Production From Dual Combination Immunotherapy in Pulmonary Metastatic Melanoma.

Nivolumab and ipilimumab are immunotherapy agents recommended for the treatment of metastatic melanoma. A rare adverse effect of these agents is hypercalcemia. The mechanism of immunotherapy-mediated hypercalcemia is thought to be due to ectopic calcitriol production from activated macrophages, similar to sarcoidosis. We present a case of a 76-year-old female with metastatic melanoma who developed severe hypercalcemia after completing a cycle of combined nivolumab and ipilimumab therapy. After other common causes of hypercalcemia in malignancy were ruled out, the decision was made to aggressively treat her hypercalcemia while inpatient and hold immunotherapy at discharge. Since holding immunotherapy, she has not had a repeat occurrence of hypercalcemia. This case stresses the importance of including immunotherapy adverse effects in the differential diagnosis for hypercalcemia in malignancy.

Clinical Outcomes with Cardiac Resynchronization Therapy in Patients with Cardiac Sarcoidosis: A Systematic Review and Proportional Meta-analysis.

BACKGROUND: Cardiac sarcoidosis (CS) is an inflammatory condition that can present with heart failure (HF). Cardiac resynchronization therapy (CRT) is known to improve clinical outcomes for patients with left bundle branch block in the general HF population. However, data about the outcomes of CRT in CS is limited. METHODS: A systematic literature search was conducted using PubMed/Medline, Embase, and the Cochrane Library from inception to February 2024 to identify studies that reported clinical outcomes following the use of CRT in patients with CS. Data for outcomes was extracted, pooled, and analyzed. OpenMetaAnalyst was used for pooling untransformed proportions along with the corresponding 95% confidence intervals (CIs). RESULTS: Five studies with a total of 176 CS patients who received CRT were included. The pooled incidence for all-cause mortality was 7.6% (95% CI: -3% to 18%), for HF-related hospitalizations 23.2% (95% CI: 2% to 43%), and for major adverse cerebral and cardiovascular events 27% (95% CI: 8% to 45%) after a mean follow-up of 60.1 (±48.7) months. The pooled left ventricular ejection fraction (LVEF) was 34.28% (95% CI: 29.88% to 38.68%) demonstrating an improvement of 3.75% in LVEF from baseline LVEF of 30.58% (95% CI: 24.68% to 36.48%). The mean New York Heart Association (NYHA) functional class was 2.16 (95% CI: 1.47 to 2.84) after CRT as compared to the baseline mean NYHA of 2.58 (95% CI: 2.29 to 2.86). CONCLUSION: Although improvements were observed in LVEF and mean NYHA, mortality was high in CS patients with CRT.

Clinical, Radiological, and Etiological Aspects of Pachymeningitis: A Study of 24 Cases.

Introduction and importance Hypertrophic pachymeningitis (HP) is an uncommon disorder with varied etiological origins and heterogeneous clinical presentation. Establishing the etiological diagnosis poses a challenge, but prompt identification provides a treatment window, potentially leading to a reversal of symptoms. MRI is the reference examination, allowing not only the early diagnosis of pachymeningitis but also the assessment of its extent and importance, detection of possible complications, and suggestion of etiology. Case presentation We conducted a retrospective study involving 24 patients recruited over 5 years for who brain imaging had revealed the presence of pachymeningitis. The average age of the patients was 40 years, with a male-to-female ratio of 0.6. Clinical discussion Headache was present in 54.17% of patients. All the patients underwent MRI examinations utilizing different sequences, with subsequent Gadolinium injection showing localized and asymmetrical meningeal thickening in 13 cases, and diffuse in the rest. The cerebrospinal fluid study unveiled an inflammatory fluid characterized by a lymphocytic predominance and hyperproteinorrhea, noted in 50% of the patients. The histopathological analysis of a stereotactic biopsy conducted on an individual patient revealed non-diagnostic results. The etiological investigation was dominated by tuberculosis, which was detected in 33.3% of cases. Idiopathic origin was identified in 16.7% of patients. Conclusion Meningeal thickening is rare, and the multitude of potential causes makes the etiological investigation challenging unless they fall within the scope of secondary meningeal disorders; otherwise, a dural biopsy becomes necessary, and the prompt initiation of treatment, along with determining the etiology influences the prognosis.

Darier-Roussy Subcutaneous Sarcoidosis Masquerading as Multiple Abscesses: A Report of a Rare Case.

Sarcoidosis is an idiopathic multisystemic granulomatous disease that mainly affects the lungs. Darier-Roussy subcutaneous sarcoidosis is among the specific and least encountered skin manifestations of sarcoidosis. In this case study, we report how subcutaneous sarcoidosis could mimic multiple abscesses presentation and hinder reaching a definitive diagnosis. A 65-year-old female presented with five, multiple, deep-seated skin lesions on the forearm, chest, and scalp. The lesions showed redness and tenderness. The patient also experienced arthralgia in the right ankle. Laboratory workup of the patient showed a high erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and white blood cell (WBC) count. The patient was suspected to have multiple abscesses, which were managed with antibiotics with no response. Thus, a computed tomography (CT) scan of the chest was done and showed mediastinal lymphadenopathy. A biopsy was taken from one of the right forearm skin lesions, and it revealed characteristic features consistent with sarcoidosis. The patient was managed with hydroxychloroquine and a tapering dose of prednisone. Therefore, subcutaneous sarcoidosis should be included in the differential diagnosis of subcutaneous lumps.

Longitudinally extensive transverse myelitis as an initial manifestation of sarcoidosis: A rare case and its management.

Key Clinical Message: Sarcoidosis-induced LETM represents a rare but life-threatening neurological manifestation of sarcoidosis, characterized by spinal cord inflammation, and associated neurological deficits. Sarcoidosis should be included in the differential diagnosis of LETM, particularly in patients with no lung involvement. Prompt recognition and management are obligatory to optimize outcomes and prevent long-term disability. Abstract: Sarcoidosis is a multisystem inflammatory granulomatous disorder characterized by the formation of noncaseating granulomas. Although sarcoidosis commonly affects the skin, lymph nodes, and lungs, neurological involvement of sarcoidosis has also been reported. Longitudinally extensive transverse myelitis (LETM) is a rare but well-documented serious manifestation of neuroscoidosis. We report a case of LETM caused by sarcoidosis in a 53-year-old male who presented with progressive bilateral lower extremity weakness, urinary retention, and paresthesia. Laboratory evaluations revealed elevated inflammatory markers. Magnetic resonance imaging of the spine showed hyperintense signals consistent with transverse myelitis. Cerebrospinal fluid analysis revealed lymphocytic pleocytosis and elevated protein levels. Chest computed tomography showed hilar lymphadenopathy. A biopsy of the intrathoracic lymph node showed noncaseating granulomas consistent with sarcoidosis. A diagnosis of sarcoidosis-induced LETM was made after ruling out all other possible etiologies. His condition improved gradually after starting high-dose prednisone, mycophenolate, and rehabilitation strategies. Our case underscores the importance of prompt diagnosis and management of sarcoidosis-induced LETM and highlights that sarcoidosis must be included among differential diagnoses of LETM, especially in cases with no lung involvement.

Current uses and understanding of PET imaging in cardiac sarcoidosis.

Sarcoidosis is a systemic disease with unclear etiology characterized by the accumulation of noncaseating, immune granulomas in affected tissues. In cardiac sarcoidosis (CS), white blood cells build up within the heart muscles, causing cardiac abnormalities. Accurate and early diagnosis of CS proves challenging. However, usage of positron emission tomography (PET) imaging, namely 18F-FDG-PET, has proven successful in diagnosing inflammatory cardiomyopathy. This review seeks to examine the role of PET in managing ventricular tachycardia in cardiac sarcoidosis. PET, in conjunction with cardiac magnetic resonance imaging (CMR) is also endorsed as the premier method for diagnosis and management of arrhythmias associated with CS by The Heart Rhythm Society. After a CS diagnosis, risk stratification of ventricular arrhythmias is a necessity given the potential for sudden cardiac death. 18F-FDG-PET has been successful in monitoring disease advancement and treatment responses in CS patients. Early stages of CS are often treated with immunosuppression drugs if there are additional signs of VT. Currently, corticosteroid and anti-arrhythmia compounds: methotrexate, cyclophosphamide, infliximab, amiodarone, and azathioprine are used to suppress inflammation. 18F-FDG-PET has certainly proven to be an incredibly useful and accurate diagnostic tool of CS. While late gadolinium enhancement by CMR is efficient in detecting myocardial necrosis and/or advanced fibrosis scarring, 18F-FDG portrays the increased uptake level of glucose metabolism. In combination PET/MRI has proven to be more successful in improving the efficacy of both scans, addressing their drawbacks, and highlighting their advantages. Managing CS patients is highly involved in detecting inflammatory regions of the heart. Early recognition prevents cardiac abnormality, mainly VT and VF in CS patients, and extends lifespan.

Evaluation of sarcoidosis with multiple bone lesions using both bone scintigraphy and FDG-PET/CT: A case report.

Sarcoidosis is a systemic granulomatous disease; however, the incidence of bone sarcoidosis is relatively rare. The short tubular bones of the hands and feet are most frequently affected, while the vertebrae and the pelvic bones are rarely involved. We hereby report a rare case of multiple bone sarcoidosis involving the vertebrae and pelvic bones, evaluated before and after steroid therapy using two different imaging modalities: bone scintigraphy and A 18F-fluorodeoxyglucose positron emission tomography combined with computed tomography (FDG-PET/CT). FDG-PET/CT is effective for detecting bone lesions; however, whole-body imaging is recommended to detect the short tubular bones of the hands and feet, which are most frequently affected.

Hypercalcaemia in gastrointestinal stromal tumour and sarcoidosis: a case report.

BACKGROUND: Hypercalcaemia 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 PRESENTATION: A 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. CONCLUSIONS: Our 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.

Isolated Cardiac Sarcoidosis Presenting as High-Degree Atrioventricular Block.

Isolated cardiac sarcoidosis is a rare phenomenon of systemic sarcoidosis, with presentation ranging from asymptomatic to sudden cardiac death. Controversy exists on diagnostic and therapeutic options, creating an ongoing challenge for clinicians in providing patient care. A 79-year-old male presented status post looposcopy and interval ureteral stent replacement with sinus bradycardia and high-degree atrioventricular block. A comprehensive examination was performed that conclusively ruled out common etiologies of atrioventricular block, including coronary artery disease, electrolyte abnormalities, and medications. This prompted an investigation using advanced cardiac imaging modalities that demonstrated cardiac sarcoidosis. Computed tomography of the chest was negative for lymphadenopathy or infiltrates indicative of pulmonary involvement. The lack of extracardiac manifestations, in combination with imaging findings, led to a probable diagnosis of isolated cardiac sarcoidosis. The patient underwent biventricular implantable cardioverter defibrillator placement and was started on oral corticosteroids.

Non-negligible ultrasonographic findings in sarcoid myositis: A case series and literature review.

Sarcoid myositis is a rare and often debilitating extrapulmonary manifestation of sarcoidosis that can be difficult to recognize without a prior sarcoidosis diagnosis. Sarcoidosis with muscle nodules or masses as the first symptom is the least common form, occurring in approximately 0.5%-2.3% of cases. This article presents four middle-aged female patients who initially sought medical attention for a lower limb mass. Ultrasound examinations revealed consistent characteristic changes indicative of myositis. All patients underwent ultrasound-guided muscle biopsy and were diagnosed with sarcoidosis. Therefore, ultrasonography plays a pivotal role as the primary diagnostic tool for the early detection of sarcoid myositis.

Rare manifestations of sarcoidosis in a young boy.

Sarcoidosis is a chronic multisystem granulomatous disease of unknown etiology. It is rare in young children. A 9-year-old boy presented with failure to thrive, skin rashes, persistent fever, and respiratory symptoms since 5 years of age. Blood investigations done showed elevated serum calcium and angiotensin converting enzyme levels and biopsy of the rashes on the left shin revealed non-caseating granulomatous lesion. Computed tomography of chest revealed interstitial lung disease and examination of eyes showed bilateral uveitis. He also had sensorineural hearing impairment, nephrocalcinosis, and short stature. The patient was treated with oral steroids and mycophenolate mofetil. At follow up, there was improvement in his systemic features including rashes and arthritis. Early detection, diagnosis, and appropriate treatment of sarcoidosis are vital for disease control and to avoid morbidity.

A Comprehensive Review on the Electrocardiographic Manifestations of Cardiac Sarcoidosis: Patterns and Prognosis.

PURPOSE OF REVIEW: Cardiac sarcoidosis (CS) refers to cardiac involvement in sarcoidosis and is usually associated with worse outcomes. This comprehensive review aims to elucidate the electrocardiographic (ECG) signs and features associated with CS, as well as examine modern techniques and their importance in CS evaluation. RECENT FINDINGS: The exact pathogenesis of CS is still unclear, but it stems from an abnormal immunological response triggered by environmental factors in individuals with genetic predisposition. CS presents with non-cardiac symptoms; however, conduction system abnormalities are common in patients with CS. The most common electrocardiographic (ECG) signs include atrioventricular blocks and ventricular tachyarrhythmia. Distinct patterns, such as fragmented QRS complexes, T-wave alternans, and bundle branch blocks, are critical indicators of myocardial involvement. The application of advanced ECG techniques such as signal-averaged ECG, Holter monitoring, wavelet-transformed ECG, microvolt T-wave alternans, and artificial intelligence-supported analysis holds promising outcomes for opportune detection and monitoring of CS. Timely utilisation of inexpensive and readily available ECG possesses the potential to allow early detection and intervention for CS. The integration of artificial intelligence models into ECG analysis is a promising approach for improving the ECG diagnostic accuracy and further risk stratification of patients with CS.

Risk factors for uveitis in a Finnish sarcoid population.

PURPOSE: To evaluate possible risk factors for uveitis among Finnish sarcoidosis patients. METHODS: Patient charts of patients with sarcoidosis, with (n = 97) or without (n = 255) uveitis, and with a comprehensive eye examination from January 2014 to January 2021 at Tays Eye Centre, Tampere University Hospital, Finland were studied. RESULTS: Sarcoidosis patients with uveitis had higher rate of lymphocytopenia (43% vs. 29%, p = 0.041) and lower serum lysozyme levels (2.0 mg/L vs. 2.3 mg/L, p = 0.049; 95% CI, -0.692 to -0.002). Lysozyme level or lymphocytopenia did not have a statistically significant effect on the probability of uveitis in a binary logistic regression analysis. No other differences in the potential risk factors with p-values ≤0.05 were found, including bilateral hilar lymphadenopathy, serum angiotensin-converting enzyme (ACE) levels, sex, age and history of smoking. CONCLUSION: Lymphocytopenia and lower serum lysozyme levels present as possible risk factors for uveitis among patients with sarcoidosis. Systematic measurement of lymphocyte and lysozyme levels in sarcoidosis is needed to further understand their role as potential risk factors.

Neurosarcoidosis: An under-diagnosed cause of myelopathy.

Sarcoidosis is a granulomatous disorder with multi-organ involvement, and etiology still remains unknown. Neurosarcoidosis is the involvement of the nervous system in sarcoidosis. Spinal cord involvement is usually intra-dural, but extra-dural involvement can also occur. Here, we report a case of 30 years old lady presenting with subacute onset paraparesis with bladder and bowel involvement, which was finally diagnosed as sarcoidosis-associated myelopathy with the longitudinally extensive transverse myelitis (LETM) phenotype.

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

PURPOSE: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.