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Journal of Personalized Medicine May 2023At present, polyserositis (PS) remains a challenging entity, which resides both in the fact that there is confusion regarding the terminology, and that it is still... (Review)
Review
UNLABELLED
At present, polyserositis (PS) remains a challenging entity, which resides both in the fact that there is confusion regarding the terminology, and that it is still understudied. We aimed to identify the etiologies of PS, reported in adult patients.
METHODS
We performed a systematic review of the literature on PubMed(MEDLINE) database, using the following (MESH) terms: pleurisy/etiology, pleural effusion/etiology, pericarditis/etiology, pericardial effusion/etiology, pericardial effusion chronic, ascites/etiology, ascitic fluid/etiology, polyserositis, serositis, and serositides.
RESULTS
A total of 1979 articles were identified, dating from 1973 onwards. After screening the articles, we included 114 patients from 23 articles (one case series including 92 patients and 22 case reports) in the final report. The most common diagnosis was neoplasia (30; 26.3%), followed by autoimmune diseases (19, 16.7%) and infections (16, 12.3%). Still, in 35 cases, the etiology of PS remained unkown.
CONCLUSION
PS is a challenging and understudied entity, which is associated with a wide range of diagnoses. However, prospective studies should be developed in order to have a clear understanding regarding its etiologies and their prevalences.
PubMed: 37241003
DOI: 10.3390/jpm13050834 -
Insights Into Imaging Jun 2022Connective tissue diseases (CTDs) include a spectrum of disorders that affect the connective tissue of the human body; they include autoimmune disorders characterized by... (Review)
Review
Connective tissue diseases (CTDs) include a spectrum of disorders that affect the connective tissue of the human body; they include autoimmune disorders characterized by immune-mediated chronic inflammation and the development of fibrosis. Lung involvement can be misdiagnosed, since pulmonary alterations preceded osteo-articular manifestations only in 20% of cases and they have no clear clinical findings in the early phases. All pulmonary structures may be interested: pulmonary interstitium, airways, pleura and respiratory muscles. Among these autoimmune disorders, rheumatoid arthritis (RA) is characterized by usual interstitial pneumonia (UIP), pulmonary nodules and airway disease with air-trapping, whereas non-specific interstitial pneumonia (NSIP), pulmonary hypertension and esophageal dilatation are frequently revealed in systemic sclerosis (SSc). NSIP and organizing pneumonia (OP) may be found in patients having polymyositis (PM) and dermatomyositis (DM); in some cases, perilobular consolidations and reverse halo-sign areas may be observed. Systemic lupus erythematosus (SLE) is characterized by serositis, acute lupus pneumonitis and alveolar hemorrhage. In the Sjögren syndrome (SS), the most frequent pattern encountered on HRCT images is represented by NSIP; UIP and lymphocytic interstitial pneumonia (LIP) are reported with a lower frequency. Finally, fibrotic NSIP may be the interstitial disease observed in patients having mixed connective tissue diseases (MCTD). This pictorial review therefore aims to provide clinical features and imaging findings associated with autoimmune CTDs, in order to help radiologists, pneumologists and rheumatologists in their diagnoses and management.
PubMed: 35767157
DOI: 10.1186/s13244-022-01243-2 -
Internal Medicine (Tokyo, Japan) 2023Autoinflammatory diseases are systemic disorders caused by genetic or acquired abnormalities in certain signaling pathways of the innate immune system. Dysregulated...
Autoinflammatory diseases are systemic disorders caused by genetic or acquired abnormalities in certain signaling pathways of the innate immune system. Dysregulated activation of the inflammasome, i.e. molecular platforms responsible for the activation of caspase-1 and production of interleukin-1β, causes autoinflammation. Familial Mediterranean fever (FMF), the most common genetic autoinflammatory disease, is characterized by a periodic fever and serositis. The complex and heterogeneous genetic background of Japanese FMF patients, accompanied by potential overlap with other rheumatic diseases, suggests crosstalk between genetic and environmental factors. Recently, FMF has been recognized as being part of a spectrum of autoinflammatory syndromes named pyrin-associated autoinflammatory diseases. The discovery of a new monogenic autoinflammatory disease, A20 haploinsufficiency, may provide novel insights into early-onset Behçet's-like diseases. In contrast, adult-onset Still's disease and Schnitzler's syndrome are acquired autoinflammatory diseases without a monogenic abnormality. Although the concept of autoinflammatory diseases originally applied to monogenic hereditary recurrent fevers, it has been expanded to include non-genetic complex autoinflammatory diseases. Information concerning monogenic autoinflammatory diseases may prove useful for elucidating the molecular mechanisms underlying non-genetic autoinflammatory diseases.
Topics: Adult; Humans; Hereditary Autoinflammatory Diseases; Familial Mediterranean Fever; Inflammasomes; Fever; Behcet Syndrome
PubMed: 36596474
DOI: 10.2169/internalmedicine.09279-21 -
Biomolecules Jun 2020Mesothelin (MSLN) is a cell surface glycoprotein normally expressed only on serosal surfaces, and not found in the parenchyma of vital organs. Many solid tumors also... (Review)
Review
Mesothelin (MSLN) is a cell surface glycoprotein normally expressed only on serosal surfaces, and not found in the parenchyma of vital organs. Many solid tumors also express MSLN, including mesothelioma and pancreatic adenocarcinoma. Due to this favorable expression profile, MSLN represents a viable target for directed anti-neoplastic therapies, such as recombinant immunotoxins (iToxs). Pre-clinical testing of MSLN-targeted iTox's has yielded a strong body of evidence for activity against a number of solid tumors. This has led to multiple clinical trials, testing the safety and efficacy of the clinical leads SS1P and LMB-100. While promising clinical results have been observed, neutralizing anti-drug antibody (ADA) formation presents a major challenge to overcome in the therapeutic development process. Additionally, on-target, off-tumor toxicity from serositis and non-specific capillary leak syndrome (CLS) also limits the dose, and therefore, impact anti-tumor activity. This review summarizes existing pre-clinical and clinical data on MSLN-targeted iTox's. In addition, we address the potential future directions of research to enhance the activity of these anti-tumor agents.
Topics: Antibodies, Monoclonal; Antibodies, Neutralizing; Clinical Trials as Topic; GPI-Linked Proteins; Gene Expression Regulation; Humans; Immunoconjugates; Immunotoxins; Mesothelin; Mesothelioma; Molecular Targeted Therapy; Pancreatic Neoplasms
PubMed: 32605175
DOI: 10.3390/biom10070973 -
International Journal of Women's... Oct 2022Bullous systemic lupus erythematosus (BSLE) is a rare blistering presentation of systemic lupus erythematosus, typically affecting women with the highest incidence in... (Review)
Review
Bullous systemic lupus erythematosus (BSLE) is a rare blistering presentation of systemic lupus erythematosus, typically affecting women with the highest incidence in those of African descent. The key pathogenic insult includes the formation of autoantibodies against type VII collagen, which weaken the basement membrane zone and lead to the formation of subepidermal blisters. The acute vesiculobullous eruptions in BSLE generally tend to affect photo-distributed areas, although they can arise unrelated to sun exposure (eg, mucous membranes, axillae). The bullae can arise from erythematous macules, inflammatory plaques, or previously normal skin. Their appearance can range from small, grouped vesicles reminiscent of lesions in dermatitis herpetiformis to large, tense blisters, similar to bullous pemphigoid. Internal organ involvement occurs in up to 90% of those affected. This mostly includes lupus nephritis (classes III-V, lifetime prevalence of up to 90%), arthralgias/arthritis, and cytopenias, while serositis and neuropsychiatric involvement are rare. First-line management with dapsone should be considered in mild disease with stable underlying systemic lupus erythematosus. As discussed in this review, the off-label use of rituximab (an anti-CD20 B-cell depleting agent) has been shown to be safe and effective in several refractory cases of BSLE unresponsive to dapsone, glucocorticoids, or steroid-sparing immunosuppressants.
PubMed: 35923586
DOI: 10.1097/JW9.0000000000000034 -
Cancer Immunology, Immunotherapy : CII Dec 2022As immune checkpoint inhibitors (ICI) are increasingly being used due to effectiveness in various tumor entities, rare side effects occur more frequently. Pericardial...
BACKGROUND
As immune checkpoint inhibitors (ICI) are increasingly being used due to effectiveness in various tumor entities, rare side effects occur more frequently. Pericardial effusion has been reported in patients with advanced non-small cell lung cancer (NSCLC) after or under treatment with immune checkpoint inhibitors. However, knowledge about serositis and edemas induced by checkpoint inhibitors in other tumor entities is scarce.
METHODS AND RESULTS
Four cases with sudden onset of checkpoint inhibitor induced serositis (irSerositis) are presented including one patient with metastatic cervical cancer, two with metastatic melanoma and one with non-small cell lung cancer (NSCLC). In all cases treatment with steroids was successful in the beginning, but did not lead to complete recovery of the patients. All patients required multiple punctures. Three of the patients presented with additional peripheral edema; in one patient only the lower extremities were affected, whereas the entire body, even face and eyelids were involved in the other patients. In all patients serositis was accompanied by other immune-related adverse events (irAEs).
CONCLUSION
ICI-induced serositis and effusions are complex to diagnose and treat and might be underdiagnosed. For differentiation from malignant serositis pathology of the punctured fluid can be helpful (lymphocytes vs. malignant cells). Identifying irSerositis as early as possible is essential since steroids can improve symptoms.
Topics: Humans; Carcinoma, Non-Small-Cell Lung; Lung Neoplasms; Serositis; Immune Checkpoint Inhibitors; Edema
PubMed: 35576074
DOI: 10.1007/s00262-022-03211-7 -
Italian Journal of Pediatrics Jan 2020Familial Mediterranean Fever, a monogenic autoinflammatory disease secondary to MEFV gene mutations in the chromosome 16p13, is characterized by recurrent self-limiting... (Review)
Review
Familial Mediterranean Fever, a monogenic autoinflammatory disease secondary to MEFV gene mutations in the chromosome 16p13, is characterized by recurrent self-limiting attacks of fever, arthritis, aphthous changes in lips and/or oral mucosa, erythema, serositis. It is caused by dysregulation of the inflammasome, a complex intracellular multiprotein structure, commanding the overproduction of interleukin 1. Familial Mediterranean Fever can be associated with other multifactorial autoinflammatory diseases, as vasculitis and Behçet disease.Symptoms frequently start before 20 years of age and are characterized by a more severe phenotype in patients who begin earlier.Attacks consist of fever, serositis, arthritis and high levels of inflammatory reactants: C-reactive protein, erythrocyte sedimentation rate, serum amyloid A associated with leucocytosis and neutrophilia. The symptom-free intervals are of different length.The attacks of Familial Mediterranean Fever can have a trigger, as infections, stress, menses, exposure to cold, fat-rich food, drugs.The diagnosis needs a clinical definition of the disease and a genetic confirmation. An accurate differential diagnosis is mandatory to exclude infective agents, autoimmune diseases, etc.In many patients there is no genetic confirmation of the disease; furthermore, some subjects with the relieve of MEFV mutations, show a phenotype not in line with the diagnosis of Familial Mediterranean Fever. For these reasons, diagnostic criteria were developed, as Tel Hashomer Hospital criteria, the "Turkish FMF Paediatric criteria", the "clinical classification criteria for autoinflammatory periodic fevers" formulated by PRINTO.The goals of the treatment are: prevention of attacks recurrence, normalization of inflammatory markers, control of subclinical inflammation in attacks-free intervals and prevention of medium and long-term complications, as amyloidosis. Colchicine is the first step in the treatment; biological drugs are effective in non-responder patients.The goal of this paper is to give a wide and broad review to general paediatricians on Familial Mediterranean Fever, with the relative diagnostic, clinical and therapeutic aspects.
Topics: Biomarkers; Child; Colchicine; Diagnosis, Differential; Familial Mediterranean Fever; Humans; Phenotype; Tubulin Modulators
PubMed: 31941537
DOI: 10.1186/s13052-019-0766-z -
Orphanet Journal of Rare Diseases Apr 2022Gorham-Stout syndrome (GSS) is a rare disorder with various presentations and unpredictable prognoses. Previous understandings of GSS mainly focused on progressive bone...
BACKGROUND
Gorham-Stout syndrome (GSS) is a rare disorder with various presentations and unpredictable prognoses. Previous understandings of GSS mainly focused on progressive bone destruction, while we identified a group of GSS patients with serous effusion as the first symptom. This study aimed to investigate the clinical characteristics of patients with GSS having serous effusion as the first symptom.
METHODS
Patients diagnosed with GSS were identified through the Peking Union Medical College Hospital Medical Record System. The demographic, clinical, laboratory, and imaging data were collected. Patients who first presented with serous effusion were recruited into the serous group, while those with bone destruction were recruited into the bone group.
RESULTS
Of the 23 patients with GSS enrolled, 13 were in the bone group and 10 in the serous group. The median disease duration was shorter and exercise tolerance was lower in the serous group. Despite less frequent bone pain in the serous group, the frequency of bone involvement was similar to that in the bone group. Patients in the serous group had higher rates of bilateral pleural effusion and multiple serous effusion. However, serous effusion also developed with disease progression in the bone group. Of the 17 patients treated with bisphosphonates, 14 reached bone-stable state. However, 5 out of 10 patients with serous effusion still had refractory effusions after bisphosphonates treatment. Three patients received sirolimus treatment, with an improvement in serous effusion. Seventeen patients were followed up; three patients died, two in the bone group and one in the serous group.
CONCLUSIONS
This study discovered that GSS could first be presented with serous effusion. We believe that this may be a new phenotype of the disease. Sirolimus might help in controlling serous effusion and improving prognosis.
Topics: Diphosphonates; Humans; Osteolysis, Essential; Prognosis; Serositis; Sirolimus
PubMed: 35379268
DOI: 10.1186/s13023-022-02307-8 -
Internal Medicine (Tokyo, Japan) Mar 2022Autoinflammatory diseases are systemic disorders caused by genetic or acquired abnormalities in certain signaling pathways of the innate immune system. Dysregulated...
Autoinflammatory diseases are systemic disorders caused by genetic or acquired abnormalities in certain signaling pathways of the innate immune system. Dysregulated activation of the inflammasome, i.e. molecular platforms responsible for the activation of caspase-1 and production of interleukin-1β, causes autoinflammation. Familial Mediterranean fever (FMF), the most common genetic autoinflammatory disease, is characterized by a periodic fever and serositis. The complex and heterogeneous genetic background of Japanese FMF patients, accompanied by potential overlap with other rheumatic diseases, suggests crosstalk between genetic and environmental factors. Recently, FMF has been recognized as being part of a spectrum of autoinflammatory syndromes named pyrin-associated autoinflammatory diseases. The discovery of a new monogenic autoinflammatory disease, A20 haploinsufficiency, may provide novel insights into early-onset Behçet's-like diseases. In contrast, adult-onset Still's disease and Schnitzler's syndrome are acquired autoinflammatory diseases without a monogenic abnormality. Although the concept of autoinflammatory diseases originally applied to monogenic hereditary recurrent fevers, it has been expanded to include non-genetic complex autoinflammatory diseases. Information concerning monogenic autoinflammatory diseases may prove useful for elucidating the molecular mechanisms underlying non-genetic autoinflammatory diseases.
PubMed: 35314554
DOI: 10.2169/internalmedicine.9279-21