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Familial amyloid polyneuropathy

MedGen UID:
104815
•Concept ID:
C0206245
•
Disease or Syndrome
Synonyms: Amyloid Neuropathies, Familial; Amyloid Neuropathy, Familial; Amyloid Polyneuropathies, Familial; Amyloid Polyneuropathy, Familial; Amyloidoses, Hereditary Neuropathic; Amyloidosis, Hereditary Neuropathic; Familial Amyloid Neuropathies; Familial Amyloid Neuropathy; Familial Amyloid Polyneuropathies; Familial Amyloid Polyneuropathy; Hereditary Neuropathic Amyloidoses; Hereditary Neuropathic Amyloidosis; Neuropathic Amyloidoses, Hereditary; Neuropathic Amyloidosis, Hereditary; Neuropathies, Familial Amyloid; Neuropathy, Familial Amyloid; Polyneuropathies, Familial Amyloid; Polyneuropathy, Familial Amyloid
SNOMED CT: Neuropathic heredofamilial amyloidosis (42295001); Familial neuropathic amyloidosis (42295001); Familial amyloid polyneuropathy (42295001); AF type amyloidosis (42295001); Familial polyneuropathic amyloidosis (42295001)

Definition

A rare inherited neuropathy characterized by deposition of amyloid in the peripheral nerves. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial amyloid polyneuropathy

Professional guidelines

PubMed

Clinical advances of RNA therapeutics for treatment of neurological and neuromuscular diseases.
Holm A, Hansen SN, Klitgaard H, Kauppinen S
RNA Biol 2022;19(1):594-608. Epub 2021 Dec 31 doi: 10.1080/15476286.2022.2066334. PMID: 35482908Free PMC Article
Diagnosis and management of sensory polyneuropathy.
Gwathmey KG, Pearson KT
BMJ 2019 May 8;365:l1108. doi: 10.1136/bmj.l1108. PMID: 31068323
Clinical development of an antisense therapy for the treatment of transthyretin-associated polyneuropathy.
Ackermann EJ, Guo S, Booten S, Alvarado L, Benson M, Hughes S, Monia BP
Amyloid 2012 Jun;19 Suppl 1:43-4. Epub 2012 Apr 12 doi: 10.3109/13506129.2012.673140. PMID: 22494066

Recent clinical studies

Etiology

Clinical advances of RNA therapeutics for treatment of neurological and neuromuscular diseases.
Holm A, Hansen SN, Klitgaard H, Kauppinen S
RNA Biol 2022;19(1):594-608. Epub 2021 Dec 31 doi: 10.1080/15476286.2022.2066334. PMID: 35482908Free PMC Article
Diagnosis and management of sensory polyneuropathy.
Gwathmey KG, Pearson KT
BMJ 2019 May 8;365:l1108. doi: 10.1136/bmj.l1108. PMID: 31068323
Estimating the global prevalence of transthyretin familial amyloid polyneuropathy.
Schmidt HH, Waddington-Cruz M, Botteman MF, Carter JA, Chopra AS, Hopps M, Stewart M, Fallet S, Amass L
Muscle Nerve 2018 May;57(5):829-837. Epub 2018 Feb 1 doi: 10.1002/mus.26034. PMID: 29211930Free PMC Article
Amyloid neuropathies.
Shin SC, Robinson-Papp J
Mt Sinai J Med 2012 Nov-Dec;79(6):733-48. doi: 10.1002/msj.21352. PMID: 23239211Free PMC Article
Familial amyloid polyneuropathy.
Planté-Bordeneuve V, Said G
Lancet Neurol 2011 Dec;10(12):1086-97. doi: 10.1016/S1474-4422(11)70246-0. PMID: 22094129

Diagnosis

Neuropathy Associated with Systemic Amyloidosis.
Kaku M, Berk JL
Semin Neurol 2019 Oct;39(5):578-588. Epub 2019 Oct 22 doi: 10.1055/s-0039-1688994. PMID: 31639841
Diagnosis and management of sensory polyneuropathy.
Gwathmey KG, Pearson KT
BMJ 2019 May 8;365:l1108. doi: 10.1136/bmj.l1108. PMID: 31068323
Neuropathy.
Pisciotta C, Shy ME
Handb Clin Neurol 2018;148:653-665. doi: 10.1016/B978-0-444-64076-5.00042-9. PMID: 29478606
Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments.
Sekijima Y
J Neurol Neurosurg Psychiatry 2015 Sep;86(9):1036-43. Epub 2015 Jan 20 doi: 10.1136/jnnp-2014-308724. PMID: 25604431
Familial amyloid polyneuropathy.
Planté-Bordeneuve V, Said G
Lancet Neurol 2011 Dec;10(12):1086-97. doi: 10.1016/S1474-4422(11)70246-0. PMID: 22094129

Therapy

Clinical advances of RNA therapeutics for treatment of neurological and neuromuscular diseases.
Holm A, Hansen SN, Klitgaard H, Kauppinen S
RNA Biol 2022;19(1):594-608. Epub 2021 Dec 31 doi: 10.1080/15476286.2022.2066334. PMID: 35482908Free PMC Article
Hereditary transthyretin amyloidosis: current treatment.
Adams D, Slama M
Curr Opin Neurol 2020 Oct;33(5):553-561. doi: 10.1097/WCO.0000000000000852. PMID: 32796279
Diagnosis and management of sensory polyneuropathy.
Gwathmey KG, Pearson KT
BMJ 2019 May 8;365:l1108. doi: 10.1136/bmj.l1108. PMID: 31068323
Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments.
Sekijima Y
J Neurol Neurosurg Psychiatry 2015 Sep;86(9):1036-43. Epub 2015 Jan 20 doi: 10.1136/jnnp-2014-308724. PMID: 25604431
Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial.
Coelho T, Maia LF, Martins da Silva A, Waddington Cruz M, Planté-Bordeneuve V, Lozeron P, Suhr OB, Campistol JM, Conceição IM, Schmidt HH, Trigo P, Kelly JW, Labaudinière R, Chan J, Packman J, Wilson A, Grogan DR
Neurology 2012 Aug 21;79(8):785-92. Epub 2012 Jul 25 doi: 10.1212/WNL.0b013e3182661eb1. PMID: 22843282Free PMC Article

Prognosis

F-waves persistence in peripheral sensory syndromes.
Lima FD, Martinez ARM, Schmitt GDS, França AFEDC, Velho PENF, Akita J, Garbino JA, Nucci A, França MC Jr
Arq Neuropsiquiatr 2023 Sep;81(9):785-794. Epub 2023 Oct 4 doi: 10.1055/s-0043-1772599. PMID: 37793400Free PMC Article
Diagnosis and management of sensory polyneuropathy.
Gwathmey KG, Pearson KT
BMJ 2019 May 8;365:l1108. doi: 10.1136/bmj.l1108. PMID: 31068323
Autonomic involvement in hereditary transthyretin amyloidosis (hATTR amyloidosis).
Gonzalez-Duarte A
Clin Auton Res 2019 Apr;29(2):245-251. Epub 2018 Mar 6 doi: 10.1007/s10286-018-0514-2. PMID: 29511897
Amyloid neuropathies.
Shin SC, Robinson-Papp J
Mt Sinai J Med 2012 Nov-Dec;79(6):733-48. doi: 10.1002/msj.21352. PMID: 23239211Free PMC Article
Familial amyloid polyneuropathy.
Planté-Bordeneuve V, Said G
Lancet Neurol 2011 Dec;10(12):1086-97. doi: 10.1016/S1474-4422(11)70246-0. PMID: 22094129

Clinical prediction guides

Transthyretin Misfolding, A Fatal Structural Pathogenesis Mechanism.
Si JB, Kim B, Kim JH
Int J Mol Sci 2021 Apr 23;22(9) doi: 10.3390/ijms22094429. PMID: 33922648Free PMC Article
Hereditary transthyretin amyloidosis: current treatment.
Adams D, Slama M
Curr Opin Neurol 2020 Oct;33(5):553-561. doi: 10.1097/WCO.0000000000000852. PMID: 32796279
Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series.
Waddington-Cruz M, Schmidt H, Botteman MF, Carter JA, Stewart M, Hopps M, Fallet S, Amass L
Orphanet J Rare Dis 2019 Feb 8;14(1):34. doi: 10.1186/s13023-019-1000-1. PMID: 30736835Free PMC Article
Clinical measures in transthyretin familial amyloid polyneuropathy.
Coelho T, Vinik A, Vinik EJ, Tripp T, Packman J, Grogan DR
Muscle Nerve 2017 Mar;55(3):323-332. Epub 2016 Dec 16 doi: 10.1002/mus.25257. PMID: 27422379
Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial.
Coelho T, Maia LF, Martins da Silva A, Waddington Cruz M, Planté-Bordeneuve V, Lozeron P, Suhr OB, Campistol JM, Conceição IM, Schmidt HH, Trigo P, Kelly JW, Labaudinière R, Chan J, Packman J, Wilson A, Grogan DR
Neurology 2012 Aug 21;79(8):785-92. Epub 2012 Jul 25 doi: 10.1212/WNL.0b013e3182661eb1. PMID: 22843282Free PMC Article

Recent systematic reviews

Targeting transthyretin - Mechanism-based treatment approaches and future perspectives in hereditary amyloidosis.
Dohrn MF, Ihne S, Hegenbart U, Medina J, Züchner SL, Coelho T, Hahn K
J Neurochem 2021 Mar;156(6):802-818. Epub 2020 Dec 3 doi: 10.1111/jnc.15233. PMID: 33155274
Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'.
Jennings MJ, Lochmüller A, Atalaia A, Horvath R
J Neuromuscul Dis 2021;8(3):383-400. doi: 10.3233/JND-200546. PMID: 32773395Free PMC Article
Pharmacological treatment for familial amyloid polyneuropathy.
Magrinelli F, Fabrizi GM, Santoro L, Manganelli F, Zanette G, Cavallaro T, Tamburin S
Cochrane Database Syst Rev 2020 Apr 20;4(4):CD012395. doi: 10.1002/14651858.CD012395.pub2. PMID: 32311072Free PMC Article
Characteristics and natural history of autonomic involvement in hereditary ATTR amyloidosis: a systematic review.
Gonzalez-Duarte A, Valdés-Ferrer SI, Cantú-Brito C
Clin Auton Res 2019 Sep;29(Suppl 1):1-9. Epub 2019 Aug 31 doi: 10.1007/s10286-019-00630-y. PMID: 31473866Free PMC Article
Ocular Manifestations and Therapeutic Options in Patients with Familial Amyloid Polyneuropathy: A Systematic Review.
Martins AC, Rosa AM, Costa E, Tavares C, Quadrado MJ, Murta JN
Biomed Res Int 2015;2015:282405. Epub 2015 Oct 19 doi: 10.1155/2015/282405. PMID: 26558262Free PMC Article

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