transthyretin amyloidosis; ATTR amyloidosis; ATTR cardiomyopathy
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Etiology
Pathology
- progressive axonal polyneuropathy
Genetics
- family history of neuropathy, restrictive cardiomyopathy
- mutation in transthyretin gene (TTR)
Clinical manifestations
- multiorgan involvement common
Laboratory
Diagnostic procedures
- electromyography with nerve conduction study
- diffuse axonal sensorimotor polyneuropathy
- periodic cardiac screening with speckle-tracking echocardiography & radionuclide cardiac scintigraphy[4]
Radiology
Management
- tafamidis 20-80 mg QD
- reduces mortality, cardiovascular hospitalization[7]
- TTR mRNA-guided CRISPR-Cas9 system with durable knockout of TTR in 6 patients with transthyretin amyloidosis after a single dose[5][8]
- vutrisiran (Amvuttra) a transthyretin-directed small interfering RNA
- 25 mg once every 3 months
- symptomatic treatment with loop diuretics, mineralocorticoid receptor antagonists, SGLT-2 inhibitors[7]
More general terms
More specific terms
Additional terms
References
- ↑ Medical Knowledge Self Assessment Program (MKSAP) 18, 19. American College of Physicians, Philadelphia 2018, 2022.
- ↑ Adams D, Lozeron P, Lacroix C. Amyloid neuropathies. Curr Opin Neurol. 2012 Oct;25(5):564-72. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/22941262
Adams D, Cauquil C, Labeyrie C. Familial amyloid polyneuropathy. Curr Opin Neurol. 2017 Oct;30(5):481-489. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/28678039 - ↑ ARUP Consult: Familial Transthyretin Amyloidosis (TTR) Sequencing https://arupconsult.com/ati/familial-transthyretin-amyloidosis-ttr-sequencing
- ↑ Jump up to: 4.0 4.1 Sinha A, McNally EM, Khan SS Transthyretin Genetic Testing. JAMA Cardiol. Published online May 12, 2021 PMID: https://www.ncbi.nlm.nih.gov/pubmed/33978672 https://jamanetwork.com/journals/jamacardiology/fullarticle/2779773
- ↑ Jump up to: 5.0 5.1 George J In a First, CRISPR Infusion Edits Genes Directly in Humans. "A watershed moment in modern medicine," says genetics expert. MedPage Today June 28, 2021 https://www.medpagetoday.com/neurology/generalneurology/93314
Gillmore JD, Gane E, Taubel J et al CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis. N Engl J Med 2021. June 26 PMID: https://www.ncbi.nlm.nih.gov/pubmed/34215024 https://www.nejm.org/doi/full/10.1056/NEJMoa2107454 - ↑ Jump up to: 6.0 6.1 Nomura T, Fujiki F, Ueda M. Popeye Sign in Hereditary Transthyretin Amyloidosis. JAMA Neurol. Published online July 3, 2023 PMID: https://www.ncbi.nlm.nih.gov/pubmed/37399023 https://jamanetwork.com/journals/jamaneurology/fullarticle/2806405
- ↑ Jump up to: 7.0 7.1 7.2 Di Palo, Feder S, Baggenstos YT et al Palliative Pharmacotherapy for Cardiovascular Disease: A Scientific Statement From the American Heart Association. Circ Cardiovasc Qual Outcomes. 2024 Jul 1:e000131 PMID: https://www.ncbi.nlm.nih.gov/pubmed/38946532 Free article. Review. https://www.ahajournals.org/doi/epdf/10.1161/HCQ.0000000000000131
- ↑ Jump up to: 8.0 8.1 Fontana M et al. CRISPR-Cas9 gene editing with nexiguran ziclumeran for ATTR cardiomyopathy. N Engl J Med 2024 Nov 16; [e-pub]. https://www.nejm.org/doi/10.1056/NEJMoa2412309