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Orphanet Journal of Rare Diseases Apr 2024Rapid progressive interstitial lung disease (RP-ILD) is the leading cause of anti-melanoma differentiation associated protein 5 antibody positive dermatomyositis...
Elevated serum B-cell activator factor levels predict rapid progressive interstitial lung disease in anti-melanoma differentiation associated protein 5 antibody positive dermatomyositis.
BACKGROUND
Rapid progressive interstitial lung disease (RP-ILD) is the leading cause of anti-melanoma differentiation associated protein 5 antibody positive dermatomyositis (anti-MDA5DM) related death. Elevated serum B-cell activating factor (BAFF) levels have been implicated in connective tissue diseases associated ILD. Here, we evaluate whether BAFF could be a prognostic biomarker for predicting RP-ILD in anti-MDA5DM patients.
METHODS
Serums were collected from 39 patients with anti-MDA5DM (20 with RP-ILD and 19 with non-RP-ILD), 20 antisynthase syndrome (ASS) patients and 20 healthy controls (HC). BAFF concentration was measured by an enzyme-linked immunosorbent assay.
RESULTS
Serum BAFF level was higher in anti-MDA5DM patients than those in ASS patients and HC (3882.32 ± 1880.09 vs. 2540.89 ± 1403.04 and 2486.28 ± 767.97 pg/mL, p = 0.0056 and 0.0038, respectively). Within anti-MDA5DM groups, RP-ILD patients exhibited higher BAFF concentration than non-RP-ILD group (4549.78 ± 1839.97 vs. 3297.28 ± 1794.69 pg/mL, p = 0.04). The BAFF concentration was positively correlated with levels of C-reactive protein (CRP), dehydrogenase (LDH) and cytokeratin (CK) in anti-MDA5DM patients (r = 0.350, p = 0.035; r = 0.393, p = 0.016; r = 0.518, p = 0.001; respectively). The best cut-off value of BAFF concentration was 2971.5 pg/mL by ROC curve (AUC area = 0.690, p = 0.045) and BAFF > 2971.5 pg/mL was an independent risk factor for RP-ILD using multivariate analysis (OR = 9.389, 95% CI = 1.609-54.769; p = 0.013).
CONCLUSIONS
Serum BAFF could be a useful prognostic biomarker for early detecting RP-ILD risk in anti-MDA5DM patients.
Topics: Humans; Dermatomyositis; Interferon-Induced Helicase, IFIH1; Autoantibodies; Lung Diseases, Interstitial; Biomarkers; Prognosis; Retrospective Studies; Disease Progression
PubMed: 38637830
DOI: 10.1186/s13023-024-03153-6 -
Basic and Clinical Neuroscience 2023Muscle biopsy is commonly used to diagnose inflammatory myopathies. We evaluated the ability of muscle ultrasound, a non-invasive and simple tool, to distinguish between...
INTRODUCTION
Muscle biopsy is commonly used to diagnose inflammatory myopathies. We evaluated the ability of muscle ultrasound, a non-invasive and simple tool, to distinguish between healthy subjects and patients with inflammatory myopathy.
METHODS
This study was conducted on 17 patients recently diagnosed with biopsy inflammatory myopathies (12 dermatomyositis, 5 polymyositis) compared with 17 age- and gender-matched healthy control adults. All patients underwent clinical assessments, including manual muscle testing, hand-held dynamometry, and muscle ultrasound evaluations, including thickness and echo intensity in predefined muscle groups.
RESULTS
The disease duration was seven months (interquartile range: 3 to 11 months). Except for the biceps and gastrocnemius, patients' muscles had significantly higher echo intensity and lower thickness than the control group. The echo intensity sum-score manifested the highest area under the curve compared to the sum-scores of other variables (echo intensity vs manual muscle testing: Area under curves-difference=0.18, P<0.01; echo intensity vs dynamometry: Area under curves-difference=0.14, P=0.02; echo intensity vs thickness: Area under curves-differences-difference=0.25, P<0.01).
CONCLUSION
The echo intensity of muscles differed significantly between healthy individuals and patients with inflammatory myopathies and may serve as a useful diagnostic biomarker.
PubMed: 38628832
DOI: 10.32598/bcn.2021.3567.1 -
International Journal of Surgery Case... May 2024Intestinal duplication is an uncommon congenital malformation affecting the alimentary tract. This article presents a case of enteric duplication cyst (EDC) in an adult,...
INTRODUCTION AND IMPORTANCE
Intestinal duplication is an uncommon congenital malformation affecting the alimentary tract. This article presents a case of enteric duplication cyst (EDC) in an adult, accompanied by a review of the available literature.
CASE PRESENTATION
A 34-year-old woman with polymyositis underwent a routine CT scan as part of her medical assessment revealing an 8 cm mass near the caecum and terminal ileum. Diagnostic procedures confirmed a cystic spherical mass. The patient underwent ileo-cecal resection, with primary anastomosis and an uneventful recovery.
CLINICAL DISCUSSION
Studies indicate that the frequency of polymyositis coexisting with a neoplasm range from 6 % to 40 %. Therefore, a body CT scan is recommended for patients with myopathy as in our patient. Intestinal duplications are predominantly found in children but can also occur in adults, often discovered incidentally or due to complications. Diagnostic imaging techniques, such as ultrasonography and CT scan, are crucial in identifying duplication location and characteristics. In this case, colonoscopy indicated ileocecal valve compression, and histological examination confirmed an enteric duplication cyst with ectopic gastric mucosa.
CONCLUSION
Enteric duplication cysts are rare, and the existing literature on the topic somewhat limited. Early diagnosis and surgical intervention are essential to stave off potential complications and reduce morbidity. Clinician awareness of enteric duplication cysts enables timely management, enhancing patient outcomes. Further research is needed to improve understanding and optimize patient care.
PubMed: 38615468
DOI: 10.1016/j.ijscr.2024.109606 -
Reumatologia Clinica Apr 2024The use of specific antibodies in inflammatory myopathies has improved the characterization of this disease, identifying different clinical phenotypes. Patients with...
The use of specific antibodies in inflammatory myopathies has improved the characterization of this disease, identifying different clinical phenotypes. Patients with dermatomyositis (DM) and anti-MDA5 antibodies display typical skin symptoms, lesser muscular involvement, and a prevalence of interstitial lung disease (ILD) of up to 91%. Beyond ILD, spontaneous pneumomediastinum (SN) has been identified as a rare but potentially fatal pulmonary manifestation. Two cases of this complication in patients with anti-MDA5 DM are reported.
Topics: Female; Humans; Male; Middle Aged; Autoantibodies; Dermatomyositis; Interferon-Induced Helicase, IFIH1; Mediastinal Emphysema
PubMed: 38614887
DOI: 10.1016/j.reumae.2024.04.002 -
Frontiers in Medicine 2024Idiopathic inflammatory myopathies (IIMs) encompass a diverse group of diseases characterized by considerable variability in clinical manifestations, antibody profiles,...
Myositis-associated antibodies predict the severity of lung involvement in adult patients with inflammatory myositis - a cohort study of 70 adult patients with myositis in a single center.
INTRODUCTION
Idiopathic inflammatory myopathies (IIMs) encompass a diverse group of diseases characterized by considerable variability in clinical manifestations, antibody profiles, and responsiveness to immunosuppressive therapies. This study aimed to investigate the association between organ involvement and distinct myositis autoantibodies in individuals with IIM in a single-center cohort.
METHODS
Patients with ICD diagnoses M33.1, M33.2, M33.9, or M609 who (1) had been tested with Euroline blot assay for myositis autoantibodies and (2) met the classification criteria of definite/probable polymyositis (PM) or dermatomyositis (DM), anti-synthetase syndrome (ASS), or inclusion body myositis (IBM) were included. Medical journals were retrospectively examined with respect to clinical disease features.
RESULTS
Seventy patients (median age 58 years; 66% females) were included and represented the following diagnosis: PM ( = 23), DM ( = 21), ASS ( = 23), and IBM ( = 3). Most of the patients (87%) presented a muscle biopsy indicative of myositis. The presence of autoantibodies was as follows: myositis-specific antibodies, MSA ( = 53), myositis-associated antibodies, MAA ( = 33), both MSA + MAA ( = 24), MSA only ( = 29), MAA only ( = 9), no MSA, or MAA ( = 8). Anti-Jo-1 was the most common MSA (19%), whereas the most common MAA was anti-Ro/SSA52 (31%). We observed a significant association between antibody patterns and lung disease. In our cohort, 47% of the patients in the whole study group, 86% of patients with anti-SSA52, and 100% with anti-Jo-1 had pulmonary involvement. Patients with both MSA and MAA had a higher incidence of lung disease and decreased CO-diffusion capacity. This was especially prominent in anti-Ro/SSA52-positive patients. Interestingly, none of the patients suffered from lung disease if only antibodies against Mi-2α, Mi-2β, NXP2, HMGCR, and TIF1γ were present or no MSA/MAA were detected.
DISCUSSION
The simultaneous presence of both MAA and MSA indicates an increased risk of lung involvement in patients with inflammatory myopathies. The presence of any MAA, and especially anti-Ro/SSA52, is associated with more severe pulmonary disease. Our data suggest that MAA antibodies might be relevant markers for early detection and treatment of lung involvement in IIM.
PubMed: 38606156
DOI: 10.3389/fmed.2024.1340310 -
Journal of Clinical Medicine Feb 2024Idiopathic inflammatory myopathies (IIMs) are a group of autoimmune disorders often complicated by interstitial lung disease (ILD). The clinical characteristics and...
BACKGROUND
Idiopathic inflammatory myopathies (IIMs) are a group of autoimmune disorders often complicated by interstitial lung disease (ILD). The clinical characteristics and outcomes of IIM-associated ILD have been reported variably, but the literature on rural populations is scarce.
METHODS
A retrospective cross-sectional study was conducted at a rural tertiary academic medical center. Twenty-nine patients met the final inclusion criteria. The primary outcome was to assess the disease state and immunological and radiographic features of IIM-associated ILD. Secondary outcomes included disease progression, ILD exacerbation, mortality rate, and factors associated with poor outcome.
RESULTS
Dermatomyositis (n = 15, 51.72%) followed by polymyositis (n = 8, 27.58%) were predominant myopathies. The most common autoantibodies were anti-Jo1 antibodies (n = 11, 37.93%). Indeterminate usual interstitial pneumonitis (41.30%, n = 12) was the most common radiographic pattern followed by non-specific interstitial pneumonia (n = 5, 17.24%). ILD exacerbation (n = 14, 66.66%) and mortality rate (n = 6, 20.69%) were high. Albumin levels were significantly lower in patients who died.
CONCLUSIONS
The clinical characteristics of patients with IIM-associated ILD in rural Appalachia exhibit notable distinctions, and outcomes are worse compared to other populations. Larger studies are needed to investigate other prognostics factors and longitudinal trends of clinical characteristics and outcomes of IIM-associated ILD in rural populations.
PubMed: 38592101
DOI: 10.3390/jcm13051294 -
BMC Pulmonary Medicine Apr 2024Autoimmune pulmonary alveolar proteinosis (APAP) is a diffuse lung disease that causes abnormal accumulation of lipoproteins in the alveoli; however, its pathogenesis...
A case of autoimmune pulmonary alveolar proteinosis during the course of treatment of rapidly progressive interstitial pneumonia associated with anti-MDA5 antibody-positive dermatomyositis.
BACKGROUND
Autoimmune pulmonary alveolar proteinosis (APAP) is a diffuse lung disease that causes abnormal accumulation of lipoproteins in the alveoli; however, its pathogenesis remains unclear. Recently, APAP cases have been reported during the course of dermatomyositis. The combination of these two diseases may be coincidental; however, it may have been overlooked because differentiating APAP from a flare-up of interstitial pneumonia associated with dermatomyositis is challenging. This didactic case demonstrates the need for early APAP scrutiny.
CASE PRESENTATION
A 50-year-old woman was diagnosed with anti-melanoma differentiation-associated gene 5 (anti-MDA5) antibody-positive dermatitis and interstitial pneumonia in April 2021. The patient was treated with corticosteroids, tacrolimus, and cyclophosphamide pulse therapy for interstitial pneumonia complicated by MDA5 antibody-positive dermatitis, which improved the symptoms and interstitial pneumonia. Eight months after the start of treatment, a new interstitial shadow appeared that worsened. Therefore, three additional courses of cyclophosphamide pulse therapy were administered; however, the respiratory symptoms and interstitial shadows did not improve. Respiratory failure progressed, and 14 months after treatment initiation, bronchoscopy revealed turbid alveolar lavage fluid, numerous foamy macrophages, and numerous periodic acid-Schiff-positive unstructured materials. Blood test results revealed high anti-granulocyte-macrophage colony-stimulating factor (GM-CSF) antibody levels, leading to a diagnosis of APAP. The patient underwent whole-lung lavage, and the respiratory disturbance promptly improved. Anti-GM-CSF antibodies were measured from the cryopreserved serum samples collected at the time of diagnosis of anti-MDA5 antibody-positive dermatitis, and 10 months later, both values were significantly higher than normal.
CONCLUSIONS
This is the first report of anti-MDA5 antibody-positive dermatomyositis complicated by interstitial pneumonia with APAP, which may develop during immunosuppressive therapy and be misdiagnosed as a re-exacerbation of interstitial pneumonia. In anti-MDA5 antibody-positive dermatomyositis, APAP comorbidity may have been overlooked, and early evaluation with bronchoalveolar lavage fluid and anti-GM-CSF antibody measurements should be considered, keeping the development of APAP in mind.
Topics: Female; Humans; Middle Aged; Pulmonary Alveolar Proteinosis; Dermatomyositis; Autoantibodies; Lung Diseases, Interstitial; Cyclophosphamide; Dermatitis; Interferon-Induced Helicase, IFIH1; Autoimmune Diseases
PubMed: 38589870
DOI: 10.1186/s12890-024-02989-9 -
RMD Open Apr 2024We aimed to explore a new and readily available practical marker for rapidly progressive interstitial lung disease (RP-ILD) and poor short-term outcomes in patients with...
AIM
We aimed to explore a new and readily available practical marker for rapidly progressive interstitial lung disease (RP-ILD) and poor short-term outcomes in patients with idiopathic inflammatory myopathies (IIM).
METHODS
A total of 1822 consecutive patients with IIM between 2009 and 2021 were evaluated retrospectively. All proven cases of naïve ILD with complete medical records were included. Red cell distribution width (RDW) values at the initial stage, 3 months and last follow-up were collected. The clinical characteristics and outcomes of the patients were recorded.
RESULTS
We identified 532 patients with IIM with an average follow-up of 4 years. ILD prevalence was higher in patients of elevated RDW (p<0.001). The patients with ILD and elevated RDW had lower levels of PaO/FiO, FVC% and DLco% and a higher prevalence of RP-ILD than those with normal RDW (p<0.001). Prognostic analysis revealed that RDW was an independent risk factor for prognosis in patients with IIM-ILD (HR=2.9, p=0.03). Patients with dermatomyositis (DM) with RP-ILD with a change in RDW within 3 months (∆RDW-3) greater than 0 were more likely to die within 3 months. Moreover, the prevalence of ∆RDW-3>0 was higher in patients with RP-ILD and positive for anti-melanoma differentiation-associated gene 5 antibody who died within 3 months (87.5%) compared with those alive at 3 months (24.6%) (p<0.001).
CONCLUSION
These findings suggest that repeated RDW assays could assist physicians in identifying patients with DM-ILD who were at a high risk of RP-ILD and death.
Topics: Humans; Dermatomyositis; Retrospective Studies; Erythrocyte Indices; Lung Diseases, Interstitial; Myositis
PubMed: 38580342
DOI: 10.1136/rmdopen-2023-003931 -
Swiss Medical Weekly Mar 2024We report the first case of anti-melanoma differentiation-associated gene 5 (MDA5)-positive dermatomyositis as a systemic immune-related adverse event in a 64-year-old...
We report the first case of anti-melanoma differentiation-associated gene 5 (MDA5)-positive dermatomyositis as a systemic immune-related adverse event in a 64-year-old man receiving pembrolizumab to treat advanced lung cancer. The patient experienced hypothyroidism, myalgia, skin involvement, dyspnoea and diarrhoea. Laboratory tests revealed raised inflammatory markers, hypercreatinekinasemia and anti-MDA5 autoantibodies. Electroneuromyography and pathognomonic signs on physical examination confirmed the diagnosis of pauci-myopathic dermatomyositis. Pembrolizumab was discontinued and immunosuppressive therapy led to rapid and progressive improvement, with complete remission of dermatomyositis. This case report widens the spectrum of systemic immune-related adverse events associated with pembrolizumab.
Topics: Humans; Male; Middle Aged; Antibodies, Monoclonal, Humanized; Autoantibodies; Dermatomyositis; Interferon-Induced Helicase, IFIH1; Lung Diseases, Interstitial; Lung Neoplasms
PubMed: 38579289
DOI: 10.57187/s.3513 -
Annals of Medicine and Surgery (2012) Apr 2024Dermatomyositis (DM), sometimes referred to as inflammatory and degenerative changes in the skin and muscles, is a rare autoimmune disorder. DM is distinguished by...
INTRODUCTION AND IMPORTANCE
Dermatomyositis (DM), sometimes referred to as inflammatory and degenerative changes in the skin and muscles, is a rare autoimmune disorder. DM is distinguished by myopathic disease, symmetrical proximal muscle weakness, and increased creatine kinase (CK).
CASE PRESENTATION
A 30-year-old-female presented to the department of dermatology with a history of chronic right hand pain spreading to the shoulder, severe tachycardia, and dyspenia that increased during routine tasks like using the bathroom. What makes this case unique is that the CPK developed without doubling, and the final concentration was 207 ng/ml. Other common clinical symptoms include amyopathic/hypomyopathic muscle involvement and DM-specific rash (Gottron's papules, heliotrope rash), and these manifestations were in our patients. Sun protection, topical treatment with corticosteroids and/or calcineurin inhibitors, and systemic medication should be utilized for all individuals with nonvasculopathic disease. In our case, the patient stopped using azathioprine and began taking methotrexate.
CLINICAL DISCUSSION
Sun protection, topical therapy with corticosteroids and/or calcineurin inhibitors, and systemic medication should be utilized in layers for all individuals with nonvasculopathic illnesses. Mycophenolat Mofetil is beneficial in treating refractory illnesses as well as individuals with interstitial lung disease or substantial skin disease.
CONCLUSION
Even if test findings are not conclusive, dermatomyositis should always be considered when muscular weakness manifests. It's important to distinguish the disorder from connective tissue diseases like lupus erythematosus. In fact, to correctly diagnose DM, if there are any doubts, a muscle biopsy is required.
PubMed: 38576947
DOI: 10.1097/MS9.0000000000001682