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Clinical Practice and Cases in... May 2022A seven-year-old male presented to the pediatric emergency department with one day of abdominal pain. His physical exam was significant for rebound, guarding, and...
CASE PRESENTATION
A seven-year-old male presented to the pediatric emergency department with one day of abdominal pain. His physical exam was significant for rebound, guarding, and tenderness in the right lower quadrant, and his labs demonstrated a leukocytosis. Both a point-of-care ultrasound and radiology-performed ultrasound were concerning for acute appendicitis with a periappendiceal abscess, but on emergent laparoscopy the patient was found to have an infected urachal cyst.
DISCUSSION
Infected urachal remnants are a rare but important cause of pediatric abdominal pain. In this case, inflammation surrounding the patient's midline urachal cyst triggered a serositis that involved the appendix and pulled the cyst to the right. This created a clinical and radiologic presentation similar to appendicitis. This atypical presentation of an already rare anomaly highlights the importance of maintaining a broad differential during the work-up of pediatric abdominal pain.
PubMed: 35701355
DOI: 10.5811/cpcem.2022.1.55243 -
Transplantation and Cellular Therapy May 2023Large pericardial effusion (LPE) and tamponade are purported manifestations associated with atypical chronic graft-versus-host disease (cGVHD); however, their temporal...
Large pericardial effusion (LPE) and tamponade are purported manifestations associated with atypical chronic graft-versus-host disease (cGVHD); however, their temporal association with GVHD, management, and impact on overall outcome are not well established. We report a retrospective analysis of 38 patients who developed LPE from a cohort of 1265 (3.00%) patients age ≥18 years who underwent allogeneic hematopoietic cell transplantation (alloHCT) at Mayo Clinic between March 1993 and August 2020. The median patient age at the time of LPE was 54 years (interquartile range [IQR], 44 to 58 years), and 8 of the 38 patients (21%) had previous cardiomyopathy. The median time from alloHCT to detection of LPE was 197 days (IQR, 40 to 378 days). Overall, the incidence of grade II (15 of 38; 40%) and grade III-IV (9 of 38; 24%) acute GVHD (aGVHD) was higher in patients who developed LPE compared with those who did not develop LPE (P = .005). The incidence rates of moderate (10 of 38; 26%) and severe (15 of 38; 40%) cGVHD according to the 2014 National Institutes of Health cGVHD criteria were also higher in the LPE cohort (P = .03). Twenty-nine patients (76%) presented with cardiac tamponade, 32 patients (84%) underwent urgent pericardiocentesis for symptomatic LPE, and 2 patients had a pericardial window placement. Four patients were medically managed with colchicine, steroids, diuresis, and immunosuppressive therapy (IST). On multivariable analysis, HCT Comorbidity Index (HCT-CI) group (hazard ratio [HR] 3.57; [95% confidence interval (CI), 1.29 to 9.85; P = .014] for HCT-CI 1 to 2; 4.06 [95% CI, 1.50 to 10.99; P = .006] for HCT-CI ≥3) and aGVHD (HR, 2.38 [95% CI, 1.11 to 5.12; P = .026] for grade II and 2.82 [95% CI, 1.07 to 7.44; P = .038] for grade III-IV) were significant risk factors for developing LPE. At a median follow-up of 40 months post-alloHCT, median disease-free survival (DFS) was 34.2 months (95% CI, 25.3 to 45.7 months) in patients who did not develop LPE and 32.2 months (95% CI, 13.2 to undefined upper limit) in those who developed LPE (P = .41). The median overall survival (OS) post-alloHCT was 50.9 months (95% CI, 41.8 to 64.8 months) in patients who did not develop LPE and was 32.9 months (95% CI, 19.5 to undefined upper limit) in patients who developed LPE (P = .003). In summary, LPE and tamponade can present at various time points post-alloHCT, and management includes pericardiocentesis, steroids, and intensification/initiation of IST if associated with serositis. LPE does not appear to result in permanent cardiac damage but results in inferior OS.
Topics: Humans; Adolescent; Adult; Middle Aged; Pericardial Effusion; Retrospective Studies; Hematopoietic Stem Cell Transplantation; Graft vs Host Disease; Disease-Free Survival; Bronchiolitis Obliterans Syndrome
PubMed: 36682472
DOI: 10.1016/j.jtct.2023.01.019 -
Irish Journal of Medical Science Aug 2023Familial Mediterranean fever (FMF) is the most common autoinflammatory disease characterized by short, repeated, and self-limiting attacks of fever and serositis....
BACKGROUND
Familial Mediterranean fever (FMF) is the most common autoinflammatory disease characterized by short, repeated, and self-limiting attacks of fever and serositis. Subclinical inflammation can persist in the periods with no symptoms and result in amyloidosis even with colchicine treatment. Neopterin and calprotectin have been considered essential players in inflammation and immune response.
AIM
The study was aimed to measure serum levels of neopterin and calprotectin in patients with FMF in the attack-free period.
METHODS
A total of 160 participants were recruited from the rheumatology department in this single-center, case-control study. Individuals having the inclusion criteria were divided into healthy controls (n = 80) and FMF (n = 80). The laboratory data were acquired from the electronic registration database. Serum calprotectin and neopterin were measured with ELISA test kits. FMF patients and healthy controls' laboratory findings were compared.
RESULTS
FMF patients' serum red cell distribution width (RDW), calprotectin, and neopterin values were significantly higher compared to healthy controls. There were no statistically significant differences between calprotectin and neopterin regarding gender, family history, and colchicine response of the FMF patients.
CONCLUSIONS
Calprotectin, neopterin, and RDW can be valuable marker candidates to be used in the follow-up of subclinical inflammation in FMF patients.
Topics: Humans; Familial Mediterranean Fever; Case-Control Studies; Neopterin; Leukocyte L1 Antigen Complex; Inflammation; Biomarkers; Colchicine
PubMed: 36163581
DOI: 10.1007/s11845-022-03173-w -
ARP Rheumatology Jul 2022Serositis is seen in approximately 12% of patients with systemic lupus erythematosus (SLE), usually in the form of pleuritis or pericarditis. Peritoneal serositis with...
Serositis is seen in approximately 12% of patients with systemic lupus erythematosus (SLE), usually in the form of pleuritis or pericarditis. Peritoneal serositis with ascites is an extremely rare manifestation of SLE and ascites as initial manifestation of SLE is even rarer. Here, we describe a previously healthy 48-year-old female with periumbilical abdominal pain, constitutional symptoms, ascites, pleural effusions and raised CA-125 level as an initial manifestation of SLE, which led up to the diagnosis of pseudo-pseudo Meigs syndrome. PPMS is a rare manifestation of SLE and awareness of this entity among clinicians is crucial to ensure an early recognition and prompt treatment.
PubMed: 36056947
DOI: No ID Found -
Heliyon Dec 2023The objective of this study was to investigate the relationship between serum tumor markers and serous effusion in systemic lupus erythematosus (SLE) patients, thereby...
The objective of this study was to investigate the relationship between serum tumor markers and serous effusion in systemic lupus erythematosus (SLE) patients, thereby contributing preliminary data on the utility of these tumor markers in diagnosing serous effusion. In this retrospective analysis, clinical data of SLE patients were extracted from electronic medical records. This included the levels of serum tumor markers, including pro-gastrin-releasing peptide, neuron-specific enolase (NSE), cytokeratin-19 fragments (CYFRA 21-1), various carbohydrate antigens (CA 153, CA 125, CA 19-9), along with carcinoembryonic antigen, and alpha-fetoprotein. Positivity of tumor markers was established based on serum levels surpassing the upper threshold of the respective reference ranges. This study included 149 eligible patients with SLE, of whom 38 (25.50%) had serous effusion, and the prevalence of pleural, pericardial, and peritoneal effusions was 11.41%, 14.77%, and 6.71%, respectively. The analysis revealed that patients with serous effusion had higher scores on the SLE Disease Activity Index 2000 (SLEDAI 2000) than those without serous effusion. Notably, this disparity remained significant when the serositis score was excluded from the SLEDAI 2000 calculation. The positivity rate and serum levels of CA 125 were higher in patients with serous effusion and pleural effusion. Patients with pericardial effusion demonstrated an elevated CYFRA 21-1 positivity rate and serum CA 125 and CYFRA 21-1 levels compared to patients without pericardial effusion. CA 125 and NSE were higher both in terms of positivity rate and serum levels for patients with peritoneal effusion. Through receiver operating characteristic curve analysis, a moderate relationship was discerned between the conjoined levels of CYFRA 21-1 and CA 125 and the occurrence of pericardial effusion. Additionally, CA 125, NSE, and their combination revealed the moderate diagnostic ability of peritoneal effusion. In summary, this study observed elevated serum levels of various tumor markers in SLE patients exhibiting serous effusion, which is likely attributable to lupus-induced inflammation. These findings suggest that serum tumor markers can be valuable in diagnosing pericardial and peritoneal effusions.
PubMed: 38144302
DOI: 10.1016/j.heliyon.2023.e23213 -
Frontiers in Immunology 2024To assess the impact conferred by variants on the clinical spectrum of patients with systemic autoinflammatory diseases (SAIDs) in Greece. (Review)
Review
OBJECTIVE
To assess the impact conferred by variants on the clinical spectrum of patients with systemic autoinflammatory diseases (SAIDs) in Greece.
METHODS
Consecutive patients (n=167) with confirmed SAIDs who underwent screening by next generation sequencing (NGS) targeting 26 SAID-associated genes, and carried at least one gene variant, were retrospectively studied. The demographic, clinical and laboratory parameters were recorded.
RESULTS
In total, 24 rare variants in 23/167 patients (14%) were detected. Notably, 18 patients had at least one co-existing variant in 13 genes other than . Nine patients had juvenile- and 14 adult-onset disease. All patients presented with symptoms potentially induced by the variants. In particular, the candidate clinical diagnosis was Yao syndrome (YAOS) in 12 patients (7% of the whole SAID cohort). The clinical spectrum of patients with YAOS (mean episode duration 8 days) was fever (n=12/12), articular symptoms (n=8), gastrointestinal symptoms (n=7; abdominal pain/bloating in 7; diarrhea in 4; oral ulcers in 3), serositis (n=7), and rash (n=5), while the inflammatory markers were elevated in all but one patient. Most of these patients showed a poor response to nonsteroidal anti-inflammatory drugs (n=7/9), colchicine (n=6/8) and/or anti-TNF treatment (n=3/4), while a complete response was observed in 6/10 patients receiving steroids and 3/5 on anti-IL1 treatment. Another 8 patients were diagnosed with either FMF (n=6) or PFAPA syndrome (n=2) presenting with prominent diarrhea (n=7), oral ulcers (n=2), periorbital swelling and sicca-like symptoms (n=1), or maculopapular rash (n=1). One patient had a clinically undefined SAID, albeit characterized by oral ulcers and diarrhea. Finally, one patient presented with chronic relapsing urticaria with periorbital edema and inflammatory markers, and another one had a Crohn-like syndrome with good response to anti-IL-1 but refractory to anti-TNF treatment.
CONCLUSION
variants were detected in 1 out of 7 SAID patients and seem to have an impact on disease phenotype and treatment response. Further studies should validate combined molecular and clinical data to better understand these distinct nosological entities.
Topics: Adult; Animals; Humans; Hereditary Autoinflammatory Diseases; Retrospective Studies; Oral Ulcer; Simian Acquired Immunodeficiency Syndrome; Tumor Necrosis Factor Inhibitors; Diarrhea; Exanthema; Nod2 Signaling Adaptor Protein
PubMed: 38348033
DOI: 10.3389/fimmu.2024.1342668 -
Beijing Da Xue Xue Bao. Yi Xue Ban =... Dec 2022To investigate the clinical and immunological characteristics of systemic lupus erythematosus (SLE) with retinopathy.
OBJECTIVE
To investigate the clinical and immunological characteristics of systemic lupus erythematosus (SLE) with retinopathy.
METHODS
Fifty SLE patients with retinopathy without hypertension and diabetes (retinopathy group) who were hospitalized in the Peking University People's Hospital from January 2009 to July 2022 were screened. Fifty SLE patients without blurred vision during the course of the SLE and without retinopathy in the fundus examinations (non-retinopathy group) matched for sex and age were selected. Their clinical manifestations, laboratory tests and lymphocyte subsets were statistically analyzed.
RESULTS
The most common fundus ocular change of the SLE patients with retinopathy was cotton-wool spots (33/50, 66.0%), followed by intraretinal hemorrhage (31/50, 62.0%). Retinopathy could occur at any stage of SLE duration, with a median of 1 year (20 days to 30 years). The proportion of lupus nephritis (72.0% 46.0%, =0.008) and serositis (58.0% 28.0%, =0.002) in the retinopathy group were significantly higher than those in the non-retinopathy group. The proportion of neuropsychiatric systemic lupus erythematosus (NPSLE) in the retinopathy group was higher, but there was no significant difference between the two groups. Compared with the non-retinopathy group, the proportion of positive anti-cardiolipin antibody (30.0% 12.0%, =0.027), the SLEDAI score (median 22.0 10.5, < 0.001), erythrocyte sedimentation rate ( < 0.001), C-reactive protein (=0.019) and twenty-four hours urine total protein level (=0.026) in the retinopathy group were significantly higher, and the hemoglobin level was significantly lower [(91.64±25.18) g/L (113.96±18.57) g/L, < 0.001]. The proportion of CD19 B cells in peripheral blood of the patients with SLE retinopathy was significantly increased (=0.010), the proportion of CD4 T cells was significantly decreased (=0.025) and the proportion of natural killer (NK) cells was lower (=0.051) when compared with the non-retinopathy group.
CONCLUSION
Retinopathy in SLE suggests a higher activity of SLE disease with more frequent hematologic and retinal involvement. It is recommended to perform fundus examination as soon as a patient is diagnosed with SLE. SLE patients with retinopathy may have stronger abnormal proliferation of B cells, and aggressive treatment should be applied to prevent other important organs involvement.
Topics: Humans; Lupus Erythematosus, Systemic; Lupus Vasculitis, Central Nervous System; Lupus Nephritis; Antibodies, Anticardiolipin; Serositis
PubMed: 36533340
DOI: 10.19723/j.issn.1671-167X.2022.06.008 -
Cureus Jun 2023Introduction Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with multisystemic involvement. The clinical presentation and immunological findings of...
Introduction Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with multisystemic involvement. The clinical presentation and immunological findings of SLE patients from different regions in Saudi Arabia have been studied. There have been no studies on the clinical manifestations of SLE in patients in Saudi Arabia's southern region. This article aims to explore the clinical manifestations of SLE in a tertiary center in the southern region of Saudi Arabia. Methods A retrospective study was carried out on 108 SLE patients who were seen in the rheumatology clinic at Aseer Central Hospital over six months from January 2022 to June 2022. Patients' demographics, clinical and serological characteristics, and therapeutic data were reviewed. Results The male-to-female ratio was 1:12.5, with a mean age at presentation of 28.6 ± 10 years. The mean disease duration was 9.06 ± 5.96 years. Mucocutaneous and musculoskeletal manifestations were the most common, accounting for 76% and 57% of all cases, respectively. Neuropsychiatric involvement and lupus nephritis were present in 29% and 31% of patients, respectively. The hematological abnormalities that were present included anemia (60%), leukopenia (37%), and thrombocytopenia (15%). Antinuclear antibody (ANA) was detected in 100%, anti-double-stranded DNA (anti-dsDNA) antibody in 55%, anti-Smith antibody in 13%, and hypocomplementemia in 52% of patients. Hydroxychloroquine was received by 98% and oral steroids by 41% of the patients. Other drugs include azathioprine (23%), mycophenolate mofetil (15%), methotrexate (23%), belimumab (9%), cyclophosphamide (10%), and rituximab (6%). Conclusion The main clinical features of our patients were in parallel with previous studies in Saudi Arabia as well as in Arab countries. We found a lower prevalence of lupus nephritis, serositis, and anti-dsDNA antibody. Further multicenter studies are required to investigate the long-term outcome and survival of SLE patients.
PubMed: 37525814
DOI: 10.7759/cureus.41215 -
Cureus Jan 2022Post-cardiac injury syndrome is a heterogeneous group of conditions that result from autoimmune-mediated inflammation of the pericardium, epicardium, and myocardium....
Post-cardiac injury syndrome is a heterogeneous group of conditions that result from autoimmune-mediated inflammation of the pericardium, epicardium, and myocardium. Interventions such as pacemaker lead insertions, percutaneous coronary interventions, radiofrequency ablations, cardiac surgeries, and Swan-Ganz catheterizations can cause myocardial injury leading to post-traumatic pericarditis. This phenomenon can lead to chest pain, recurrent effusions, and fever along with possible complications of heart failure, arrhythmias, conduction abnormalities as well as cardiac tamponade. Herein, we present a case report of a 64-year-old female with a history of sick sinus syndrome managed with a dual-chamber pacemaker who presented with post-cardiac injury syndrome after three months of pacemaker implantation. She developed a recurrent syndrome of fever, chest discomfort, tachycardia with weakness, hemodynamic instability, hemorrhagic serositis, and cardiac tamponade. The mechanism of exudative inflammatory effusions initially remained inconclusive, as the workup for infectious and malignant processes was negative. However, post-cardiac injury syndrome akin to the Dressler syndrome related to screw-in dual-chamber pacemaker implantation remained a possibility. Her condition was acutely managed with a combination of colchicine and glucocorticoid therapy. She was placed on long-term aspirin and colchicine therapy to prevent any recurrences. This article illustrates a case of post-cardiac injury syndrome after dual-chamber pacemaker implantation, including details of evaluation, management, complications and monitoring of patient progress.
PubMed: 35251809
DOI: 10.7759/cureus.21737 -
RMD Open Jan 2024Systemic lupus erythematosus (SLE) significantly affects the lungs and heart, and pulmonary hypertension (PH) is a severe manifestation that leads to considerable...
BACKGROUND
Systemic lupus erythematosus (SLE) significantly affects the lungs and heart, and pulmonary hypertension (PH) is a severe manifestation that leads to considerable morbidity and mortality.
OBJECTIVES
We aimed to determine the prevalence and risk factors of probable SLE-PH, assess the main echocardiographic predictors and develop a potential screening strategy.
METHODS
A prospective single-centre study was conducted on 201 patients with SLE who underwent transthoracic echocardiography. Patients meeting PH criteria were referred for right heart catheterisation (RHC).
RESULTS
Among patients, 88.56% were women, 85.57% were of Spanish origin and 43.78% had structural heart disease. Out of these, 16 (7.96%) had intermediate or high probability criteria for PH according to European Society of Cardiology (ESC) 2022. Six RHCs confirmed PH with a prevalence of 2.99% for SLE-PH and 1.99% for SLE-pulmonary arterial hypertension (PAH).
KEY RISK FACTORS
Key risk factors included age, cardiorespiratory symptoms, serositis, anti-Ro, cardiac biomarkers and altered pulmonary function tests (PFTs). PH was linked to a higher Systemic Lupus International Collaborative Clinics/American College of Rheumatology Damage Index (SDI) (mean SDI 4.75 vs 2.05, p<0.001) and increased mortality risk in a 2-year follow-up (12.50% vs 1.08%, p=0.002).
CONCLUSION
In our cohort, 7.96% of patients with SLE had an intermediate or high PH probability. By RHC, six patients (2.99%) met the ESC/European Respiratory Society criteria for PH and four (1.99%) for PAH. The main risk factors were older age, cardiorespiratory symptoms, serositis, anti-Ro, cardiac biomarkers and altered PFTs. PH was a severe SLE complication, suggesting the need for earlier diagnosis through data-driven screening to reduce associated morbidity and mortality.
Topics: Humans; Female; Male; Hypertension, Pulmonary; Prevalence; Prospective Studies; Serositis; Echocardiography; Lupus Erythematosus, Systemic; Biomarkers
PubMed: 38191213
DOI: 10.1136/rmdopen-2023-003674