Research Fellow University of Texas MD Anderson Cancer Care Center Sugarland, Texas, United States
Introduction:
Background: Amyloidosis is a rare disorder characterized by extracellular deposition of abnormal protein fibrils in various organs. Light chain amyloidosis (AL) can be primary or secondary to lymphoproliferative disorders like multiple myeloma. We aim to provide detailed insights into the diverse clinical presentations and diagnostic challenges encountered in patients with AL.
Methods:
Methods: We conducted a retrospective analysis of four cases of AL, focusing on their unique clinical features, diagnostic evaluations, and treatment approaches.
Results: 1: 54 yo F with recent COVID-19, presented with weakness, muscle stiffness, dyspnea, anemia& hypercalcemia. Imaging revealed lytic lesions, later diagnostics confirmed IgD kappa multiple myeloma. She developed dysphagia, dysphonia, cough, and dysphonia. Evaluation confirmed secondary AL with nerve, vocal cord, and muscle involvement. Treated with daratumumab, carfilzomib, lenalidomide & dexamethasone, followed ASCT using melphalan. Restaging assessments showed a significant reduction in osseous lesions and hematologic complete remission. Speech pathology evaluation and treatment of MM improved her symptoms noted above. 2: 48 yo F presented with intermittent vocal dysphonia felt to be due to vocal cord cyst. Excisional biopsy noted low-grade B-cell lymphoma with AL deposition. PET-CT revealed laryngeal uptake due to lymphoma. CT noted an enhancing ulcerated lesion on the right false cord. No evidence of systemic amyloid. No other treatment in the absence of any other lymphoid tissue involvement or symptoms. No evidence of recurrence or systemic AL. 3: 59 yo male presented with dysphonia following a respiratory infection that failed to improve despite steroids and H2 blockers. Laryngeal videostroboscopy noted an irregular and vascular lesion of vocal fold submucosal, involving the posterior glottis and subglottis. He underwent direct micro laryngoscopy with CO2 laser excision of the lesions. Excisional biopsy confirmed AL. Workup negative for systemic involvement. He underwent focal radiation treatment. He is currently doing well with minimal change in voice quality and no evidence of recurrence 4: A 59 yo F with chronic cough found to have a lesion on the posterior pharyngeal wall, which enlarged post-COVID infection. Initially felt to be benign and observed. However, the lesion later enlarged, and new nasopharyngeal and arytenoid lesions developed. Biopsy confirmed AL. She underwent transoral robotic surgery (TORS) resection of the lesions. No evidence of systemic AL or MM
Conclusions:
Conclusion: This multicase analysis highlights the diverse clinical presentations of AL as primary and secondary presentations. These cases underscore the diagnostic challenges faced in identifying amyloidosis and the importance of multidisciplinary collaboration in accurate diagnosis and appropriate management. Timely recognition and comprehensive evaluation are crucial for ruling out systemic involvement and ensuring optimal patient outcomes.
