Variable Presentation of Hereditary Transthyretin-Mediated Amyloidosis at a Single Center. Issue 1 (September 2021)

• Record Type: Journal Article
• Authors: Hussain, Yessar
• Is Part Of: Journal of clinical neuromuscular disease. Volume 23:Issue 1(2021)
• Publication Date: 2021-09
• Subjects: transthyretin -- amyloidosis -- polyneuropathy -- cardiomyopathy; Neuromuscular diseases -- Periodicals; 616.744005
• DOI: 10.1097/CND.0000000000000356
• Languages: English
• ISSNs: 1522-0443

Abstract

Abstract: Objectives: Describe atypical presentations of hereditary transthyretin-mediated (hATTR) amyloidosis with polyneuropathy. Methods: Initial symptoms, diagnoses, and follow-up were recorded at the Austin Neuromuscular Center for 12 patients with nonclassical presentation of hATTR amyloidosis. Results: Common initial symptoms were hand and/or feet sensory manifestations (83%), muscle weakness (58%), and, less frequently, gastrointestinal and orthostatic impairment and carpal tunnel syndrome. Initial diagnoses were polyneuropathy (83%) and/or myopathy (25%). During follow-up, 10 patients (83%) developed cardiac symptoms (dyspnea, 67% and ankle edema, 17%), resulting in revised diagnoses of heart disease. Multisystem involvement raised suspicion of amyloidosis, which was confirmed by biopsy or nuclear scintigraphy, and genetic testing. All patients had polyneuropathy; 8 (67%) had cardiomyopathy-associated transthyretin mutations (V122I or T60A). Time from symptom onset to diagnosis was up to 10 years (median 5 years), during which patients' health deteriorated, although with recognition of disease signs/symptoms the diagnosis of hATTR amyloidosis was made in approximately 2–6 months from presentation at our center. Conclusions: Increased awareness of the diverse initial hATTR amyloidosis symptoms could shorten time to diagnosis, enabling earlier treatment and improved patient outcomes. Abstract : Supplemental Digital Content is Available in the Text.