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Familial amyloid polyneuropathy, type II

MedGen UID:
78671
•Concept ID:
C0268386
•
Disease or Syndrome
Synonyms: Amyloid Polyneuropathy, Swiss Type; Familial Amyloid Polyneuropathy, Type II; Swiss Type Amyloid Polyneuropathy; Type II Familial Amyloid Polyneuropathy
SNOMED CT: Indiana-Maryland type amyloid polyneuropathy (4463009); Familial amyloid polyneuropathy type II (4463009); German type amyloid polyneuropathy (4463009); Swiss type amyloid polyneuropathy (4463009); Rakavina type amyloidosis (4463009); Familial amyloid polyneuropathy, type II (4463009); Familial amyloid polyneuropathy, 84 Ser-for-Ile (4463009); Familial amyloid polyneuropathy, Indiana-Swiss type (4463009); Amyloidosis, Indiana-Maryland type (4463009); Hereditary neuropathic amyloidosis, type II (4463009)

Professional guidelines

PubMed

Cardiac Amyloidosis Treatment.
Stern LK, Patel J
Methodist Debakey Cardiovasc J 2022;18(2):59-72. Epub 2022 Mar 14 doi: 10.14797/mdcvj.1050. PMID: 35414852Free PMC Article
Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.
Adams D, Ando Y, Beirão JM, Coelho T, Gertz MA, Gillmore JD, Hawkins PN, Lousada I, Suhr OB, Merlini G
J Neurol 2021 Jun;268(6):2109-2122. Epub 2020 Jan 6 doi: 10.1007/s00415-019-09688-0. PMID: 31907599Free PMC Article
Expert Consensus Recommendations for the Suspicion and Diagnosis of Transthyretin Cardiac Amyloidosis.
Maurer MS, Bokhari S, Damy T, Dorbala S, Drachman BM, Fontana M, Grogan M, Kristen AV, Lousada I, Nativi-Nicolau J, Cristina Quarta C, Rapezzi C, Ruberg FL, Witteles R, Merlini G
Circ Heart Fail 2019 Sep;12(9):e006075. Epub 2019 Sep 4 doi: 10.1161/CIRCHEARTFAILURE.119.006075. PMID: 31480867Free PMC Article

Recent clinical studies

Therapy

Detection of TTR Amyloid in the Conjunctiva Using a Novel Fluorescent Ocular Tracer.
Pilotte J, Huang AS, Khoury S, Zhang X, Tafreshi A, Vanderklish P, Sarraf ST, Pulido JS, Milman T
Transl Vis Sci Technol 2024 Feb 1;13(2):11. doi: 10.1167/tvst.13.2.11. PMID: 38359019Free PMC Article

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