Hereditary Transthyretin Amyloidosis: Clinical Presentation and Management Updates.
J Clin Neuromuscul Dis
; 21(3): 144-156, 2020 Mar.
Article
en En
| MEDLINE
| ID: mdl-32073460
ABSTRACT
Hereditary transthyretin amyloidosis, once a rare progressive neuropathy and/or cardiomyopathy, is now recognized with increasing worldwide frequency, various phenotypes, and over 130 gene mutations identified to date. This inherited disorder develops as a result of mutated transthyretin amyloid aggregation and systematic deposition throughout the body. With increasing knowledge about the pathophysiology of this disease, new disease-modifying therapies are being developed. In addition to slowing progression, these new agents were found to improve quality of life and reduce the severity of neuropathic symptoms. Two new gene-modifying therapies recently received Food and Drug Administration approval following the positive results from phase III trials. These include an antisense oligonucleotide, inotersen, and small interfering RNA, patisiran, which were reported to reduce the production of transthyretin and had promising safety profiles. Additional novel therapies are being explored with hopes to prolong survival. Therefore, early diagnosis of this treatable disorder has become increasingly important in clinical practice.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Neuropatías Amiloides Familiares
Tipo de estudio:
Prognostic_studies
/
Screening_studies
Aspecto:
Patient_preference
Límite:
Humans
Idioma:
En
Revista:
J Clin Neuromuscul Dis
Asunto de la revista:
FISIOLOGIA
/
NEUROLOGIA
Año:
2020
Tipo del documento:
Article
País de afiliación:
Albania