Variable Presentation of Hereditary Transthyretin-Mediated Amyloidosis at a Single Center


Describe atypical presentations of hereditary transthyretin-mediated (hATTR) amyloidosis with polyneuropathy.


Initial symptoms, diagnoses, and follow-up were recorded at the Austin Neuromuscular Center for 12 patients with nonclassical presentation of hATTR amyloidosis.


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.


Increased awareness of the diverse initial hATTR amyloidosis symptoms could shorten time to diagnosis, enabling earlier treatment and improved patient outcomes.


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