Journal of clinical neuromuscular disease · 2021
Variable Presentation of Hereditary Transthyretin-Mediated Amyloidosis at a Single Center.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Hussain Yessar
Аннотация
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.
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.