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A challenging convergence of conditions in a patient with thalassemia major presenting with thymoma and lymphangioleiomyomatosis: a case report

Year: 2025

Type: article

Abstract: BACKGROUND: β-Thalassemia major is a complex, multisystemic condition. Effective transfusion programs, optimal iron chelation therapy, and progresses in magnetic resonance imaging have significantly improved patient survival. Despite these advancements, the fundamental pathophysiology remains unaltered, leading to an increase in comorbidities and cancer diagnoses with advancing age. We report a unique case of coincidentally discovered thymoma and lymphangioleiomyomatosis in a patient with β-thalassemia major. CASE PRESENTATION: A 56-year-old Italian female patient with β-thalassemia major underwent magnetic resonance imaging to quantify myocardial, hepatic, and pancreatic iron deposition. Her medical history included transfusion-dependent β-thalassemia, splenectomy, and cholecystectomy. At the time of magnetic resonance imaging, she had no significant endocrine, cardiac, or hepatic complications and was on deferasirox, vitamin D, and luspatercept. Magnetic resonance imaging revealed a lobulated mass in the prevascular mediastinum, which showed mild radiotracer uptake on positron emission tomography. Chest computed tomography revealed multiple thin-walled cysts in the lungs, indicating lymphangioleiomyomatosis. Following multidisciplinary evaluation, the patient underwent thoracoscopic thymectomy and lung wedge resection. Histopathology confirmed type B2 thymoma and pulmonary lymphangioleiomyomatosis. Post-surgery, the patient was recommended for adjuvant radiation therapy and sirolimus treatment. CONCLUSION: This is the first reported case of the coincidental discovery of thymoma and lymphangioleiomyomatosis in a patient with β-thalassemia major. This case emphasizes the importance of thorough radiologic evaluations in patients with β-thalassemia to detect potential neoplastic conditions early. Enhanced awareness among clinicians and radiologists is crucial for the timely diagnosis and management of these patients.

Source: Journal of Medical Case Reports

DOI: 10.1186/s13256-025-05174-6