Introduction: Diagnosing amyloid arthropathy remains challenging because its manifestations often mimic those of other inflammatory musculoskeletal diseases. This review aimed to describe the clinical, biological, and imaging characteristics of musculoskeletal involvement in light-chain (AL) Amyloidosis. Methods: We conducted a review in accordance with the PRISMA guidelines. We searched SCOPUS and MEDLINE for case reports and series published between January 2000 and December 2023 that detailed musculoskeletal manifestations of AL amyloidosis. To minimize the risk of omitting relevant articles, we also manually searched the reference lists of the articles identified in the initial search. Reports describing isolated cardiac amyloidosis or patients under active chemotherapy were excluded. Results: We identified 140 patients, all of whom presented with musculoskeletal manifestations as the initial manifestation of systemic AL amyloidosis. The mean age was 62.6 ± 11.6 years. Musculoskeletal findings included joint involvement in 33.6% of cases, muscular symptoms in 10.7%, carpal tunnel syndrome in 30%, and bone lesions in 12.1%. Among patients with joint disease, 42 (30%) had a rheumatoid arthritis-like presentation, and five (3.6%) exhibited features resembling giant cell arteritis. Diagnosis was confirmed by positive immunostaining for lambda light chains in all cases. Multiple myeloma was identified in 37.5% of patients. Of the 46 patients with available treatment data and a median follow-up of 11.5 months (range: 6–23 months), 25 (17.8%) achieved hematologic remission after chemotherapy, whereas 21 (15%) died during follow- up. Discussion: Our review offers a more comprehensive picture of the diverse musculoskeletal manifestations of AL amyloidosis. It showed that amyloid arthropathy can mimic common rheumatologic disorders, especially rheumatoid arthritis. Publication bias was identified as the main study limitation. Conclusions: Our findings suggest that the diagnosis of AL amyloidosis should be considered when joint involvement is associated with macroglossia, nephrotic syndrome, polyneuropathy, periorbital purpura, cutaneous lesions, or heart failure.
Introduction: Several genetic association studies have investigated Inflammatory Arthropathy (IA), a term used in this study to refer specifically to rheumatoid arthritis classified according to the 1987 American College of Rheumatology (ACR) criteria and the 2010 ACR/EULAR classification criteria. However, limited data are available regarding the role of the Angiotensin‑Converting Enzyme (ACE) Insertion/Deletion (I/D) polymorphism across different populations. The present study aimed to evaluate the association between the ACE I/D polymorphism and IA susceptibility in the Western Algerian population Materials and Methods: A total of 101 patients diagnosed with IA and 140 healthy unrelated controls were enrolled. Genotyping of the ACE I/D polymorphism (rs4340) was performed using multiplex Polymerase Chain Reaction (PCR). Genotype and allele frequencies were compared between groups, and Odds Ratios (ORs) with 95% Confidence Intervals (CIs) were calculated using SPSS software. Results: Our findings indicated a strong risk of IA associated with genotypic distributions of ACE I/D, DD ((OR) = 4(1,02-15.72), p-value = 0.04, as well as the dominant model (ID+DD) (OR) =16,01(1-29), p-value = 0.01, in the development of IA. However, no significant association was observed between ACE I/D genotypes and age in our study. Discussion: These findings suggest that the ACE I/D polymorphism, particularly the D allele, may contribute to IA susceptibility, possibly through inflammatory pathways involving the renin-angiotensin system. Conclusion: This is the first study in the Algerian population to demonstrate a potential association between the ACE I/D polymorphism and rheumatoid arthritis.
Introduction: Rheumatoid Arthritis (RA) is an autoimmune disease that has heterogeneous clinical manifestations. The A3 Adenosine Receptor (A3AR), a protein implicated in numerous inflammatory pathways, is overexpressed in patients with RA. Methods: The available preclinical and clinical literature about A3AR signaling in RA was reviewed, and published data on its molecular pathways, immunomodulatory functions, and role in synovial fibroblasts were searched. Studies exploring A3AR agonists and their mechanistic interactions with NF-κB and p53 pathways were also reviewed. Results: The mechanisms in which the A3AR is involved in alleviating inflammatory status resulting from alterations in transcriptional activity of the nuclear factor kappa B-light- chain-enhancer of activated inflammatory cells (NF-κB) in RA and the clinical and preclinical studies working on A3AR agonists alongside the apoptosis process by interacting with the p53 expression level. In contrast, we explained that the canonical and non-canonical pathways for A3AR, which may lead to worsening inflammation, were detailed. Discussion: The implication of A3AR in the worsening of destructive effects on RA synovium in cases of hypoxia, as well as the consequences of low oxygen levels on FLSs, was detailed. Conclusion: In conclusion, we hypothesized that the overexpressed A3AR could provide the activation of Ras, leading to the inflammatory and senescent phenotype of FLSs during the pathological processes in RA.
Introduction: Venous thromboembolism presents a rare clinical manifestation of Eosinophilic Granulomatosis with polyangiitis. Case Presentation: We present a case of pulmonary embolism associated with Eosinophilic Granulomatosis with Polyangiitis (EGPA) systemic manifestations in a 26-year-old Tunisian female patient. She presented with dyspnea and blood hypereosinophilia. Blood tests revealed elevated D-dimer levels. Lung scintigraphy (V/Q-scan) revealed pulmonary artery embolism in the right lung. The Computed Tomography (CT) image showed circumferential wall thickness of the lower mediastinal oesophagus and gastroesophageal junction. The chest scan also showed multiple pulmonary infiltrates with a ground-glass appearance localized in the apex of the posterior segment of the right upper lobe. The CT scan of the sinuses showed circumferential thickening of the maxillary sinus. Based on the 2022 ACR/EULAR diagnosis criteria, the patient was diagnosed with Eosinophilic Granulomatosis with Polyangiitis. After one month of anti-vitamin K treatment, a spirometry showed an obstructive pattern. The patient underwent methylprednisolone pulses, followed by oral corticosteroids, which were slowly tapered concomitantly with a cyclophosphamide regimen. A marked improvement of the spirometry parameters was achieved. Conclusions: Clinicians should be vigilant in the diagnostic and therapeutic management of Pulmonary Embolism (PE) during the active phase of EGPA to establish adequate follow-up procedures.
BACKGROUND:This report highlights a rare, catastrophic presentation of Systemic Lupus Erythematosus (SLE) manifesting as sudden cardiovascular collapse in a patient with no prior autoimmune history. The case is particularly novel due to the concurrent development of the Acute Motor Axonal Neuropathy (AMAN) variant of Guillain-Barré Syndrome (GBS) alongside multiorgan failure, mimicking septic and cardiogenic shock. CASE PRESENTATION:A 49-year-old woman suffered an out-of-hospital cardiac arrest following acute gastroenteritis, characterized by recurrent ventricular fibrillation and tachycardia. She rapidly developed multiorgan failure, including severe myocardial dysfunction (EF 29%), acute kidney injury, metabolic acidosis, and altered consciousness. While the initial presentation suggested sepsis, subsequent testing revealed positive antinuclear antibodies, lupus anticoagulant, and hypocomplementemia, meeting ACR/EULAR criteria for SLE. Electrophysiological studies for persistent weakness confirmed AMAN-type GBS. Following an aggressive multimodal immunotherapy regimen of corticosteroid pulses, Intravenous Immunoglobulin (IVIG), and rituximab, the patient achieved significant recovery of cardiac, renal, and neurological functions. CONCLUSIONS:This case demonstrates that SLE can present as a life-threatening "autoimmune storm" mimicking sepsis or primary heart failure. Early identification is vital in atypical critical illness, as aggressive immunotherapy can reverse even severe multiorgan dysfunction. Clinicians should consider autoimmune screening in cases of unexplained cardiac arrest and multiorgan failure to prevent diagnostic delays and improve outcomes.
