The burden of neurosarcoidosis and small fiber neuropathy associated symptoms

Sarcoidosis is a rare inflammatory disease that can affect many organs and may cause a variety of symptoms. Nervous system involvement, also known as neurosarcoidosis, occurs in 10-15%. The most common manifestations in the Netherlands were meningitis and cranial nerve dysfunction. In a European survey, fatigue and reduced energy levels were reported by almost all sarcoidosis patients (90%), followed by pain, pulmonary symptoms, memory, concentration and sleeping problems. Neurosarcoidosis patients reported even more cognitive failure than general sarcoidosis patients (56% vs 35%). In contrast to other manifestations, the majority of neurosarcoidosis patients (> 90%) require treatment. Hence having sarcoidosis affects not only the quality of life of the patient, but also that of the partners, it is important to involve them in the management as well

Predictors for progressive fibrosis in patients with connective tissue disease associated interstitial lung diseases

Background: Connective tissue disease associated interstitial lung disease (CTD-ILD) is associated with decreased quality of life and high mortality risk. Outcome and treatment response is unpredictable. This study aimed to identify clinical predictors for CTD-ILD with poor outcome. Methods: We performed a retrospective single centre cohort study in outpatients with CTD-ILD seen between 2004 and 2018. Clinical and biochemical data, pulmonary function tests (PFT) and high-resolution computed tomography (HRCT) results were analysed. Overall survival and progressive fibrosing ILD (PF-ILD, defined as a significant deterioration of PFT or HRCT) after two years of follow-up were assessed. Results: In total, 150 patients with CTD-ILD were included. Thirty (20%) deaths occurred during a median follow-up of 40 months (IQR 27.3–60.8), which were attributed to pulmonary infection in six (4%), respiratory failure due to PF-ILD in ten (7%) and due to other causes in fourteen patients. PF-ILD occurred in 76 (50.7%) patients and was associated with poor overall survival (adjusted HR 5.73, 95%CI 1.17–28.11). Age, smoking, C-reactive protein, and steroid-use were independently associated with increased mortality risk as well. Furthermore, patients with diabetes mellitus (adjusted OR 4.52, 95%CI 1.10–18.51), steroid-use (adjusted OR 2.26, 95%CI 1.04–4.93), and a fibrotic HRCT pattern at baseline (adjusted OR 3.11, 95%CI 1.15–8.38) had a higher risk of PF-ILD. Conclusion: PF-ILD is associated with increased mortality in patients with CTD-ILD. Patients with a fibrotic HRCT pattern at baseline, diabetes mellitus and steroid-use have a higher risk of developing PF-ILD

Prognostication of progressive pulmonary fibrosis in connective tissue disease-associated interstitial lung diseases: A cohort study

BACKGROUND: Connective tissue diseases-associated interstitial lung disease (CTD-ILD) is a heterogeneous condition that impairs quality of life and is associated with premature death. Progressive pulmonary fibrosis (PPF) has been identified as an important risk factor for poor prognosis. However, different criteria for PPF are used in clinical studies, which may complicate comparison between trials and translation of study findings into clinical practice. METHODS: This is a retrospective single center study in patients with CTD-ILD. The prognostic relevance of PPF definitions, including INBUILD, ATS/ERS/JRS/ALAT 2022, and simplified progressive fibrosing (simplified PF) criteria, were examined in this cohort and validated in the other reported Dutch CTD-ILD cohort. RESULTS: A total of 230 patients with CTD-ILD were included and the median follow-up period was six (3-9) years. Mortality risk was independently associated with age (adjusted HR 1.07, p  < 0.001), smoking history (adjusted HR 1.90, p  = 0.045), extent of fibrosis on high-resolution computed tomography (HRCT) at baseline (adjusted HR 1.05, p  = 0.018) and baseline DLCO (adjusted HR 0.97, p  = 0.013). Patients with regular pulmonary function tests in the first 2 years (adjusted HR 0.42, p  = 0.002) had a better survival. The prognostic relevance for survival was similar between the three PPF criteria in the two cohorts. CONCLUSION: Higher age, smoking, increased extent of fibrosis and low baseline DLCO were associated with poor prognosis, while regular pulmonary function evaluation was associated with better survival. The INBUILD, ATS/ERS/JRS/ALAT 2022, and simplified PF criteria revealed similar prognostication

Management of neurosarcoidosis : A clinical challenge

Purpose of reviewSarcoidosis is a complex disease with many faces, and the clinical manifestation and course of neurosarcoidosis are particularly variable. Although neurosarcoidosis occurs in up to 10% of sarcoidosis patients, it can lead to significant morbidity and some mortality.Recent findingsThree criteria are usually required for a diagnosis of (neuro)sarcoidosis: clinical and radiologic manifestations, noncaseating granulomas, and no evidence of alternative disease. Recent guidelines have helped to clarify criteria for diagnosing neurosarcoidosis. No firm guidelines exist on whether, when, and how treatment should be started. Treatment depends on the presentation and distribution, extensiveness, and severity of neurosarcoidosis. As regards evidence-based treatment, only a few randomized controlled trials have been done. Hence, several aspects of (neuro)sarcoidosis management are not fully addressed by the current literature.SummarySignificant advances have been made in the potential and accuracy of diagnostics for neurosarcoidosis. Treatment should be approached within the context of the patient's anticipated clinical course, avoidance of adverse drug effects, and, if necessary, from the perspective of the comprehensive management of a chronic disease. A multidisciplinary approach to the management of sarcoidosis is strongly recommended

The Burden of Neurosarcoidosis:Essential Approaches to Early Diagnosis and Treatment

Neurosarcoidosis (NS) is an often severe, destructive manifestation with a likely under-reported prevalence of 5 to 15% of sarcoidosis cases, and in its active phase demands timely treatment intervention. Clinical signs and symptoms of NS are variable and wide-ranging, depending on anatomical involvement. Cranial nerve dysfunction, cerebrospinal parenchymal disease, aseptic meningitis, and leptomeningeal disease are the most commonly recognized manifestations. However, non-organ-specific potentially neurologically driven symptoms, such as fatigue, cognitive dysfunction, and small fiber neuropathy, appear frequently. Heterogeneous clinical presentations and absence of any single conclusive test or biomarker render NS, and sarcoidosis itself, a challenging definitive diagnosis. Clinical suspicion of NS warrants a thoroughsystemicand neurologic evaluation hopefully resulting in supportive extraneural physical exam and/or tissue findings. Treatment targets the severity of the manifestation, with careful discernment of whether NS reflects active potentially reversible inflammatory granulomatous disease versus inactive postinflammatory damage whereby functional impairment is unlikely to be pharmacologically responsive. Non-organ-specific symptoms are poorly understood, challenging in deciphering reversibility and often identified too late to respond to conventional immunosuppressive/pharmacological treatment. Physical therapy, coping strategies, and stress reduction may benefit patients with all disease activity levels of NS. This publication provides an approach to screening, diagnosis, disease activity discernment, and pharmacological as well as nonpharmacological treatment interventions to reduce disability and protect health-related quality of life in NS.</p

Quality of life of couples living with sarcoidosis

Background:  Consequences of sarcoidosis are wide ranging, and the symptom burden has a great impact on patients' quality of life (QoL). However, the QoL of couples living with sarcoidosis has not yet been studied.  Objectives:  Our aim was to assess the QoL of couples living with sarcoidosis and to evaluate whether living with a partner with sarcoidosis influences the partner's QoL. Furthermore, we aimed to assess whether nonspecific symptoms (fatigue, cognitive failure, small fiber neuropathy (SFN)-related symptoms, depressive symptoms, and state/trait anxiety) predict QoL of partners as well as sarcoidosis patients.  Method:  Sarcoidosis outpatients, recruited at Maastricht University Medical Centre (n = 443), and their partners (n = 208) completed several questionnaires, including the World Health Organization QoL - BREF, Fatigue Assessment Scale, SFN screening list, and cognitive failure questionnaire.  Results:  QoL of the partners as well as the sarcoidosis patients was reduced compared with healthy controls, especially regarding the physical health domain. All nonspecific symptoms studied, as well as perceived social support, predicted one or more QoL domains in the sarcoidosis patients, but these factors did not predict the QoL of their partners.  Conclusions:  The QoL of partners of sarcoidosis patients was reduced, although to a lesser extent than that of the patients. Although the nonspecific symptoms and perceived social support were related to the patients' QoL, this was not the case for the partners. In the management of sarcoidosis, it is important to focus not only on the patients but also on their partners