Back to Search
Start Over
Hereditary transthyretin amyloidosis overview
- Publication Year :
- 2020
- Publisher :
- Springer-Verlag Italia s.r.l., 2020.
-
Abstract
- Hereditary amyloidogenic transthyretin (ATTRv) amyloidosis is a rare autosomal dominantly inherited disorder caused by mutations in the transthyretin (TTR) gene. The pathogenetic model of ATTRv amyloidosis indicates that amyloidogenic, usually missense, mutations destabilize the native TTR favouring the dissociation of the tetramer into partially unfolded species that self-assemble into amyloid fibrils. Amyloid deposits and monomer-oligomer toxicity are the basis of multisystemic ATTRv clinical involvement. Peripheral nervous system (autonomic and somatic) and heart are the most affected sites. In the last decades, a better knowledge of pathomechanisms underlying the disease led to develop novel and promising drugs that are rapidly changing the natural history of ATTRv amyloidosis. Thus, clinicians face the challenge of timely diagnosis for addressing patients to appropriate treatment. As well, the progressive nature of ATTRv raises the issue of presymptomatic testing and risk management of carriers. The main aim of this review was to focus on what we know about ATTRv so far, from pathogenesis to clinical manifestations, diagnosis and hence patient’s monitoring and treatment, and from presymptomatic testing to management of carriers.
- Subjects :
- medicine.medical_specialty
Neurology
Dermatology
Disease
030204 cardiovascular system & hematology
Bioinformatics
Transthyretin
TTR
Pathogenesis
03 medical and health sciences
0302 clinical medicine
ATTRv
Amyloidosi
medicine
Missense mutation
Presymptomatic Testing
biology
business.industry
Amyloidosis
General Medicine
medicine.disease
Amyloid fibril
Psychiatry and Mental health
Settore MED/26 - NEUROLOGIA
biology.protein
Neurology (clinical)
business
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....4a001d43ca9e5f3a854ef34d79c1ba46