transthyretin amyloidosis; ATTR amyloidosis

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Etiology

Pathology

Genetics

Clinical manifestations

Laboratory

Diagnostic procedures

Radiology

Management

More general terms

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Additional terms

References

  1. Medical Knowledge Self Assessment Program (MKSAP) 18, 19. American College of Physicians, Philadelphia 2018, 2022.
  2. 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
  3. ARUP Consult: Familial Transthyretin Amyloidosis (TTR) Sequencing https://arupconsult.com/ati/familial-transthyretin-amyloidosis-ttr-sequencing
  4. 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
  5. 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
  6. 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
  7. 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

Patient information

transthyretin amyloidosis patient information