Dataset Information

Osteoporosis in Systemic Autoinflammatory Diseases: A Case-Control Study.

ABSTRACT: Objective: To assess if patients affected by systemic autoinflammatory diseases (SAIDs) present an increased risk of osteoporosis (OP). Methods: Forty adults patients referred to the Rheumatology Unit of Padova University Hospital affected by Familial Mediterranean Fever (FMF), TNF-Receptor Associated Periodic Syndrome (TRAPS), and Mevalonate Kinase Deficiency (MKD) and 40 healthy subjects were enrolled. Blood and urine samples were collected in order to define phosphocalcic metabolism, including Receptor activator of nuclear factor kappa-B ligand (RANKL) and osteoprotegerin (OPG), and among inflammatory markers serum amyloid A (SAA). Femur and lumbar dual-energy X-ray absorptiometry (DXA) scans were performed and Trabecular Bone Score (TBS) was calculated on DXA lumbar images. Results: We did not observe a statistically significant difference between Bone Mineral Density (BMD) and TBS of patients compared to controls. Also, the values of phosphocalcic metabolites in patients did not statistically differ from those in controls. However, SAA and OPG levels were significantly higher in patients compared to healthy subjects (p = 0.0244 and p = 0.0064, respectively). Conclusion: Patients of our cohort affected by FMF, TRAPS, and MKD do not present an increased risk of OP compared to the healthy controls. TBS and BMD are similar between the two groups underlining a preserved bone quality in patients. High OPG levels could suggest a protective role and a bone re-balancing action in response to an inflammatory background. Finally, it should be taken into account a modulatory role played by a pro-inflammatory cytokine such as SAA on bone homeostasis.

SUBMITTER: Bindoli S

PROVIDER: S-EPMC6759948 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Osteoporosis in Systemic Autoinflammatory Diseases: A Case-Control Study.

Bindoli Sara S Franceschet Giulio G Galozzi Paola P Zaninotto Martina M Camozzi Valentina V Sfriso Paolo P

Frontiers in endocrinology 20190918

<b>Objective:</b> To assess if patients affected by systemic autoinflammatory diseases (SAIDs) present an increased risk of osteoporosis (OP). <b>Methods:</b> Forty adults patients referred to the Rheumatology Unit of Padova University Hospital affected by Familial Mediterranean Fever (FMF), TNF-Receptor Associated Periodic Syndrome (TRAPS), and Mevalonate Kinase Deficiency (MKD) and 40 healthy subjects were enrolled. Blood and urine samples were collected in order to define phosphocalcic metabo ...[more]

PMID: 31620089

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Project description:BACKGROUNDUndifferentiated systemic autoinflammatory diseases (USAIDs) present diagnostic and therapeutic challenges. Chronic interferon (IFN) signaling and cytokine dysregulation may identify diseases with available targeted treatments.METHODSSixty-six consecutively referred USAID patients underwent underwent screening for the presence of an interferon signature using a standardized type-I IFN-response-gene score (IRG-S), cytokine profiling, and genetic evaluation by next-generation sequencing.RESULTSThirty-six USAID patients (55%) had elevated IRG-S. Neutrophilic panniculitis (40% vs. 0%), basal ganglia calcifications (46% vs. 0%), interstitial lung disease (47% vs. 5%), and myositis (60% vs. 10%) were more prevalent in patients with elevated IRG-S. Moderate IRG-S elevation and highly elevated serum IL-18 distinguished 8 patients with pulmonary alveolar proteinosis (PAP) and recurrent macrophage activation syndrome (MAS). Among patients with panniculitis and progressive cytopenias, 2 patients were compound heterozygous for potentially novel LRBA mutations, 4 patients harbored potentially novel splice variants in IKBKG (which encodes NF-κB essential modulator [NEMO]), and 6 patients had de novo frameshift mutations in SAMD9L. Of additional 12 patients with elevated IRG-S and CANDLE-, SAVI- or Aicardi-Goutières syndrome-like (AGS-like) phenotypes, 5 patients carried mutations in either SAMHD1, TREX1, PSMB8, or PSMG2. Two patients had anti-MDA5 autoantibody-positive juvenile dermatomyositis, and 7 could not be classified. Patients with LRBA, IKBKG, and SAMD9L mutations showed a pattern of IRG elevation that suggests prominent NF-κB activation different from the canonical interferonopathies CANDLE, SAVI, and AGS.CONCLUSIONSIn patients with elevated IRG-S, we identified characteristic clinical features and 3 additional autoinflammatory diseases: IL-18-mediated PAP and recurrent MAS (IL-18PAP-MAS), NEMO deleted exon 5-autoinflammatory syndrome (NEMO-NDAS), and SAMD9L-associated autoinflammatory disease (SAMD9L-SAAD). The IRG-S expands the diagnostic armamentarium in evaluating USAIDs and points to different pathways regulating IRG expression.TRIAL REGISTRATIONClinicalTrials.gov NCT02974595.FUNDINGThe Intramural Research Program of the NIH, NIAID, NIAMS, and the Clinical Center.

Project description:To test the a priori hypothesis that acute and chronic work exposures to the World Trade Center (WTC) site on or after September 11, 2001 were associated with risk of new-onset systemic autoimmune diseases.A nested case-control study was performed in WTC rescue/recovery workers who had received a rheumatologist-confirmed systemic autoimmune disease diagnosis between September 12, 2001 and September 11, 2013 (n = 59), each of whom was individually matched to 4 randomly selected controls (n = 236) on the basis of year of hire (±1 year), sex, race, and work assignment (firefighter or emergency medical service). Acute exposure was defined according to the earliest time of arrival (morning of 9/11 versus later) at the WTC site, and chronic exposure was defined as duration (number of months) of WTC site-related work. Rheumatologists were blinded with regard to each subject's exposure status. The conditional odds ratios (CORs) with 95% confidence intervals (95% CIs) for incident autoimmune disease were derived from exact conditional logistic regression models.Rheumatoid arthritis was the most common autoimmune diagnosis (37% of subjects), followed by spondyloarthritis (22%), inflammatory myositis (14%), systemic lupus erythematosus (12%), systemic sclerosis (5%), Sjögren's syndrome (5%), antiphospholipid syndrome (3%), and granulomatosis with polyangiitis (Wegener's) (2%). The COR for incident autoimmune disease increased by 13% (COR 1.13, 95% CI 1.02-1.26) for each additional month worked at the WTC site. These odds were independent of the association between high acute exposure (working during the morning of 9/11) and disease outcome, which conveyed an elevated, but not statistically significant, risk (COR 1.85, 95% CI 0.86-3.89).Prolonged work at the WTC site, independent of acute exposure, was an important predictor of post-9/11 systemic autoimmune diseases. The WTC Health Program should expand surveillance efforts for those with extended exposures, as early detection can facilitate early treatment, which has been shown to minimize organ damage and improve quality of life.

Dataset Information

Osteoporosis in Systemic Autoinflammatory Diseases: A Case-Control Study.

Publications

Osteoporosis in Systemic Autoinflammatory Diseases: A Case-Control Study.

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