[Hepatosplenic sarcoidosis: description of a case at the University hospital center of Brazzaville, Congo]. / Sarcoïdose à localisation hépatosplénique : description d'un cas au Centre hospitalier universitaire de Brazzaville, Congo.

Sarcoidosis is a multisystem inflammatory disease of unknown etiology. The isolated extrapulmonary form is rare. We report the case of hepatosplenic sarcoidosis in a 29-year-old female patient.It is a patient with no notable medical history, who was seen in consultation for repeated epistaxis. Clinical examination noted nodular hepatomegaly associated with signs of portal hypertension and splenomegaly. Sedimentation rate, alkaline phosphatase, serum angiotensin converting enzyme, aminotransferases were high. Histological examination of the spleen and liver biopsy noted granulomatous inflammatory infiltration without cancerous lesion or tonsil stones.This picture is comparable with sarcoidosis, despite the absence of PET scans. The main challenge remains the differential diagnosis with other granulomatoses. Corticosteroid therapy is the first-line treatment, and after splenectomy the patient has achieved clinical and biological stability.

A case of renal sarcoidosis complicated by parotid gland and uterine lesions.

BACKGROUND: Sarcoidosis is a systemic disease that can affect multiple organs. While pulmonary sarcoidosis is most commonly observed, renal sarcoidosis occurs less frequently. We herein report a case of sarcoidosis with an exceptionally rare distribution including renal lesions. CASE PRESENTATION: A 51-year-old Japanese female was referred because of bilateral parotid swelling and renal dysfunction. Computed tomography scan showed the swelling of bilateral kidneys, parotid glands, and uterus. Ga scintigraphy also showed remarkable accumulation in these organs. Renal biopsy and cytological evaluations of parotid gland and uterus were performed and she was diagnosed as sarcoidosis of these organs. Treatment was initiated with prednisolone 40 mg/day and then renal dysfunction subsequently improved. In addition, the swelling of parotid glands and uterus improved and Ga accumulation in each organ had disappeared. CONCLUSION: This is a first case of renal sarcoidosis complicated by parotid glands and uterus lesions. Pathological findings and the reactivity observed in Ga scintigraphy indicated the presence of lesions in these organs.

The causal relationship between sarcoidosis and autoimmune diseases: a bidirectional Mendelian randomization study in FinnGen.

Background: Sarcoidosis has been considered to be associated with many autoimmune diseases (ADs), but the cause-and-effect relationship between these two diseases has not been fully explored. Therefore, the objective of this study is to explore the possible genetic association between sarcoidosis and ADs. Methods: We conducted a bidirectional Mendelian randomization (MR) study using genetic variants associated with ADs and sarcoidosis (4,041 cases and 371,255 controls) from the FinnGen study. The ADs dataset comprised 96,150 cases and 281,127 controls, encompassing 44 distinct types of autoimmune-related diseases. Subsequently, we identified seven diseases within the ADs dataset with a case size exceeding 3,500 and performed subgroup analyses on these specific diseases. Results: The MR evidence supported the causal association of genetic predictors of ADs with an increased risk of sarcoidosis (OR = 1.79, 95% CI = 1.59 to 2.02, P IVW-FE = 1.01 × 10-21), and no reverse causation (OR = 1.05, 95% CI 0.99 to 1.12, P IVW-MRE = 9.88 × 10-2). Furthermore, subgroup analyses indicated that genetic predictors of type 1 diabetes mellitus (T1DM), celiac disease, and inflammatory bowel disease (IBD) were causally linked to an elevated risk of sarcoidosis (All P < 6.25 × 10-3). Conversely, genetic predictors of sarcoidosis showed causal associations with a higher risk of type 1 diabetes mellitus (P < 6.25 × 10-3). Conclusion: The present study established a positive causal relationship between genetic predictors of ADs (e.g. T1DM, celiac disease, and IBD) and the risk of sarcoidosis, with no evidence of reverse causation.

Subcutaneous sarcoidosis: a case series from a single center.

BACKGROUND: Sarcoidosis is a multisystemic granulomatous disease which not only affect the skin but can also involve the lymph nodes, eyes, and lungs. Subcutaneous sarcoidosis (SCS), is a rare form of sarcoidosis which is generally more prevalent in women in their 40s and 50s, characterized by subcutaneous, flesh-colored nodules, mostly localized on the limbs. A retrospective study to investigate clinical features and response to treatment in patients affected by SCS. METHODS: All patients with systemic and/or cutaneous sarcoidosis visited in our clinic hospital between 2012 and 2022. Out of this group, clinical features, and management of SCS patients were analyzed. RESULTS: Out of 102 patients with specific lesions of cutaneous sarcoidosis, with or without systemic involvement, 13 (13%) were diagnosed with SCS. CONCLUSIONS: Our study confirms that systemic involvement in SCS is the prevalent finding as expected. Moreover, SCS patients have a relatively good prognosis, and systemic treatment does not differ from first-line therapies for cutaneous sarcoidosis.

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.

[Sarcoid Peripheral Neuropathy and Myopathy: A Diagnostic and Therapeutic Challenge].

Sarcoidosis is an idiopathic granulomatous multi-organ disease, primarily affecting the respiratory system, eyes, and skin, with less involvement in peripheral neurons and muscles. Sarcoid peripheral neuropathy encompasses cranial and spinal nerve impairment. Muscle involvement is often asymptomatic and revealed through imaging. Symptomatic muscle involvement is categorized into three clinical types: nodular myopathy, acute myopathy, and chronic myopathy. The identification of noncaseating granulomas in peripheral nerves or muscles, coupled with the exclusion of other diseases, is essential for establishing a definitive diagnosis of sarcoid peripheral neuropathy and myopathy. Sarcoid neuropathy and myopathy are typically managed with high-dose corticosteroids, immunosuppressants, or a combination of both. In recent times, the use of TNF-alpha inhibitors has notably increased. However, these conditions often exhibit resistance to treatment and may necessitate prolonged therapeutic interventions. Therefore, comprehensive examinations should be conducted before considering immunotherapy. Due to the rarity of these conditions, research on manifestation-specific treatments is lacking, and standard treatments for sarcoid neuropathy and myopathy have not been established. Additional treatment options for sarcoid neuropathy and myopathy are expected to become available in the future.

Sarcoidosis immunopathogenesis - a new concept of maladaptive trained immunity.

Sarcoidosis is a chronic immune disease of unknown origin for which we still lack an immunological framework unifying causal agents, host factors, and natural history of disease. Here, we discuss the initial triggers of disease, and how myeloid cells drive granuloma formation and contribute to immunopathogenesis. We highlight recent advances in our understanding of innate immune memory and propose the hypothesis that maladaptive innate immune training connects previous environmental exposure to granuloma maintenance and expansion. Lastly, we consider how this hypothesis may open novel therapeutic avenues, while corticosteroids remain the front-line treatment.

Occupational exposures and sarcoidosis: a rapid review of the evidence.

BACKGROUND: Sarcoidosis is a rare, multisystem, inflammatory condition associated with the formation of granulomas. Diagnosis can be challenging because of non-specific symptoms complicating epidemiological investigations of its aetiology. Despite research efforts, a review of the current state of the evidence is needed. AIMS: To assess the evidence for an association between occupational exposures and the development of sarcoidosis. To determine if workers in any occupation are at a greater risk of developing sarcoidosis. METHODS: This rapid review follows the methodology suggested by the World Health Organization. Two electronic databases were systematically searched until April 2022. The methodological quality of the studies was critically appraised, and a best-evidence approach was used to synthesize the results. RESULTS: Titles and abstracts of 2916 articles were screened, with 67 full-text articles reviewed for eligibility. Among the 13 studies eligible for this review, none were of high quality (i.e. low risk of bias). Six studies exploring the association between sarcoidosis and a range of occupations and exposures, and one previous systematic review were of low quality reporting inconsistent findings. Six studies examined the risk of sarcoidosis associated with occupational silica exposure, two of which were of acceptable quality. Overall, the study methodologies and results were inadequate to support causal relationships. CONCLUSIONS: There is limited evidence of acceptable methodological quality to assess the risk of sarcoidosis associated with occupational exposures. There is a growing body of research examining occupational exposure to silica and sarcoidosis. Additional high-quality confirmatory research is needed.

Comparison of prognosis in isolated versus systemic manifestations of cardiac sarcoidosis.

BACKGROUND: Isolated cardiac sarcoidosis (iCS) is a poorly understood and under-recognised entity. Previous research has postulated that those with iCS have worsened outcomes compared to those with other manifestations of the disease, however, there have been studies which both support and refute this hypothesis. PURPOSE OF REVIEW: This review will summarise the literature which focuses on differences in the epidemiology, imaging findings and patient outcome of those with isolated cardiac sarcoidosis (iCS) versus 'systemic' cardiac sarcoidosis (sCS) which is not isolated to the heart. SUMMARY: Variations in study design make accurate comparison between current papers challenging, and that the factors which indicate poor prognosis in patients with iCS is not yet fully understood. Current literature suggests those with iCS are more likely to be male, have higher numbers of abnormal uptake patterns on cardiac imaging, and may have poorer prognosis than sCS patients. Multi-centre, prospective studies analysing isolated cardiac sarcoidosis across geographical regions are needed to improve our understanding of this phenomenon and ultimately improve patient outcome.

Diagnostic delay of sarcoidosis: an integrated systematic review.

BACKGROUND: Sarcoidosis is a chronic inflammatory granulomatous disease of unknown cause. Delays in diagnosis can result in disease progression and poorer outcomes for patients. Our aim was to review the current literature to determine the overall diagnostic delay of sarcoidosis, factors associated with diagnostic delay, and the experiences of people with sarcoidosis of diagnostic delay. METHODS: Three databases (PubMed/Medline, Scopus, and ProQuest) and grey literature sources were searched. Random effects inverse variance meta-analysis was used to pool mean diagnostic delay in all types of sarcoidosis subgroup analysis. Diagnostic delay was defined as the time from reported onset of symptoms to diagnosis of sarcoidosis. RESULTS: We identified 374 titles, of which 29 studies were included in the review, with an overall sample of 1531 (694 females, 837 males). The overall mean diagnostic delay in all types of sarcoidosis was 7.93 months (95% CI 1.21 to 14.64 months). Meta-aggregation of factors related to diagnostic delay in the included studies identified three categories: (1) the complex and rare features of sarcoidosis, (2) healthcare factors and (3) patient-centred factors. Meta-aggregation of outcomes reported in case studies revealed that the three most frequent outcomes associated with diagnostic delay were: (1) incorrect diagnosis, (2) incorrect treatment and (3) development of complications/disease progression. There was no significant difference in diagnostic delay between countries with gatekeeper health systems (where consumers are referred from a primary care clinician to specialist care) and countries with non-gatekeeper systems. No qualitative studies examining people's experiences of diagnostic delay were identified. CONCLUSION: The mean diagnostic delay for sarcoidosis is almost 8 months, which has objective consequences for patient management. On the other hand, there is a paucity of evidence about the experience of diagnostic delay in sarcoidosis and factors related to this. Gaining an understanding of people's experiences while seeking a diagnosis of sarcoidosis is vital to gain insight into factors that may contribute to delays, and subsequently inform strategies, tools and training activities aimed at increasing clinician and public awareness about this rare condition. TRIAL REGISTRATION: PROSPERO Registration number: CRD42022307236.