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Familial amyloid neuropathy

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)
 
Monarch Initiative: MONDO:0007100
OMIM® Phenotypic series: PS105210

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 neuropathy

Professional guidelines

PubMed

Treatment of hereditary amyotrophic lateral sclerosis.
Corcia P, Blasco H, Beltran S, Piegay AS, Vourc'h P
Rev Neurol (Paris) 2023 Jan-Feb;179(1-2):54-60. Epub 2022 Nov 3 doi: 10.1016/j.neurol.2022.09.001. PMID: 36336493
Management of gastrointestinal complications in hereditary transthyretin amyloidosis: a single-center experience over 40 years.
Wixner J, Suhr OB, Anan I
Expert Rev Gastroenterol Hepatol 2018 Jan;12(1):73-81. Epub 2017 Nov 20 doi: 10.1080/17474124.2018.1397511. PMID: 29073801

Recent clinical studies

Etiology

Combined heart and liver transplantation: State of knowledge and outlooks.
Lebray P, Varnous S
Clin Res Hepatol Gastroenterol 2019 Apr;43(2):123-130. Epub 2019 Jan 8 doi: 10.1016/j.clinre.2018.08.009. PMID: 30635235
Abnormal small bowel motility in patients with hereditary transthyretin amyloidosis.
Wixner J, Törnblom H, Karling P, Anan I, Lindberg G
Neurogastroenterol Motil 2018 Sep;30(9):e13354. Epub 2018 Apr 14 doi: 10.1111/nmo.13354. PMID: 29655299
Charcot-Marie-Tooth disease and other inherited neuropathies.
Saporta MA
Continuum (Minneap Minn) 2014 Oct;20(5 Peripheral Nervous System Disorders):1208-25. doi: 10.1212/01.CON.0000455885.37169.4c. PMID: 25299278
Quality of life following liver transplantation: a comparative study between Familial Amyloid Neuropathy and liver disease patients.
Telles-Correia D, Cortez-Pinto H, Barbosa A, Mega I, Monteiro E
BMC Gastroenterol 2009 Jul 15;9:54. doi: 10.1186/1471-230X-9-54. PMID: 19604387Free PMC Article
Sympathetic skin responses in hereditary sensory and autonomic neuropathy and familial amyloid neuropathy are different.
Shivji ZM, Ashby P
Muscle Nerve 1999 Sep;22(9):1283-6. doi: 10.1002/(sici)1097-4598(199909)22:9<1283::aid-mus19>3.0.co;2-#. PMID: 10454728

Diagnosis

Treatment of hereditary amyotrophic lateral sclerosis.
Corcia P, Blasco H, Beltran S, Piegay AS, Vourc'h P
Rev Neurol (Paris) 2023 Jan-Feb;179(1-2):54-60. Epub 2022 Nov 3 doi: 10.1016/j.neurol.2022.09.001. PMID: 36336493
Combined heart and liver transplantation: State of knowledge and outlooks.
Lebray P, Varnous S
Clin Res Hepatol Gastroenterol 2019 Apr;43(2):123-130. Epub 2019 Jan 8 doi: 10.1016/j.clinre.2018.08.009. PMID: 30635235
Nerve and skin biopsy in neuropathies.
Sommer C
Curr Opin Neurol 2018 Oct;31(5):534-540. doi: 10.1097/WCO.0000000000000601. PMID: 30080717
"Red-flag" symptom clusters in transthyretin familial amyloid polyneuropathy.
Conceição I, González-Duarte A, Obici L, Schmidt HH, Simoneau D, Ong ML, Amass L
J Peripher Nerv Syst 2016 Mar;21(1):5-9. doi: 10.1111/jns.12153. PMID: 26663427Free PMC Article
Neuromuscular issues in systemic disease.
Grisold W, Grisold A
Curr Neurol Neurosci Rep 2015 Jul;15(7):48. doi: 10.1007/s11910-015-0565-x. PMID: 26008813

Therapy

Impact of pain and adverse health outcomes on long-term US testicular cancer survivors.
Dinh PC Jr, Monahan PO, Fosså SD, Sesso HD, Feldman DR, Dolan ME, Nevel K, Kincaid J, Vaughn DJ, Martin NE, Sanchez VA, Einhorn LH, Frisina R, Fung C, Kroenke K, Travis LB
J Natl Cancer Inst 2024 Mar 7;116(3):455-467. doi: 10.1093/jnci/djad236. PMID: 37966940Free PMC Article
Tafamidis delays disease progression in patients with early stage transthyretin familial amyloid polyneuropathy: additional supportive analyses from the pivotal trial.
Keohane D, Schwartz J, Gundapaneni B, Stewart M, Amass L
Amyloid 2017 Mar;24(1):30-36. Epub 2017 Apr 10 doi: 10.1080/13506129.2017.1301419. PMID: 28393570
Neuromuscular issues in systemic disease.
Grisold W, Grisold A
Curr Neurol Neurosci Rep 2015 Jul;15(7):48. doi: 10.1007/s11910-015-0565-x. PMID: 26008813
Pathophysiology of diarrhea in patients with familial amyloid neuropathy.
Feurle GE
Digestion 1987;36(1):13-7. doi: 10.1159/000199393. PMID: 3493933

Prognosis

Combined heart and liver transplantation: State of knowledge and outlooks.
Lebray P, Varnous S
Clin Res Hepatol Gastroenterol 2019 Apr;43(2):123-130. Epub 2019 Jan 8 doi: 10.1016/j.clinre.2018.08.009. PMID: 30635235
Progressive axonal polyneuropathy in a mitochondrial disorder: an uncommon association with familial amyloid neuropathy.
Luigetti M, Primiano G, Bisogni G, Cuccagna C, Carrozzo R, Obici L, Bernardo D, Sancricca C, Servidei S
Amyloid 2018 Dec;25(4):261-262. Epub 2018 Sep 7 doi: 10.1080/13506129.2018.1506919. PMID: 30193540
Neuromuscular issues in systemic disease.
Grisold W, Grisold A
Curr Neurol Neurosci Rep 2015 Jul;15(7):48. doi: 10.1007/s11910-015-0565-x. PMID: 26008813
Sympathetic skin responses in hereditary sensory and autonomic neuropathy and familial amyloid neuropathy are different.
Shivji ZM, Ashby P
Muscle Nerve 1999 Sep;22(9):1283-6. doi: 10.1002/(sici)1097-4598(199909)22:9<1283::aid-mus19>3.0.co;2-#. PMID: 10454728
Ocular amyloidosis and secondary glaucoma.
Nelson GA, Edward DP, Wilensky JT
Ophthalmology 1999 Jul;106(7):1363-6. doi: 10.1016/S0161-6420(99)00726-5. PMID: 10406623

Clinical prediction guides

Impact of pain and adverse health outcomes on long-term US testicular cancer survivors.
Dinh PC Jr, Monahan PO, Fosså SD, Sesso HD, Feldman DR, Dolan ME, Nevel K, Kincaid J, Vaughn DJ, Martin NE, Sanchez VA, Einhorn LH, Frisina R, Fung C, Kroenke K, Travis LB
J Natl Cancer Inst 2024 Mar 7;116(3):455-467. doi: 10.1093/jnci/djad236. PMID: 37966940Free PMC Article
Combined heart and liver transplantation: State of knowledge and outlooks.
Lebray P, Varnous S
Clin Res Hepatol Gastroenterol 2019 Apr;43(2):123-130. Epub 2019 Jan 8 doi: 10.1016/j.clinre.2018.08.009. PMID: 30635235
Abnormal small bowel motility in patients with hereditary transthyretin amyloidosis.
Wixner J, Törnblom H, Karling P, Anan I, Lindberg G
Neurogastroenterol Motil 2018 Sep;30(9):e13354. Epub 2018 Apr 14 doi: 10.1111/nmo.13354. PMID: 29655299
"Red-flag" symptom clusters in transthyretin familial amyloid polyneuropathy.
Conceição I, González-Duarte A, Obici L, Schmidt HH, Simoneau D, Ong ML, Amass L
J Peripher Nerv Syst 2016 Mar;21(1):5-9. doi: 10.1111/jns.12153. PMID: 26663427Free PMC Article
Clinical value of immunohistochemistry with AF-antibody in the diagnosis of familial amyloid neuropathy.
Feurle GE, Linke RP, Kuhn E, Wagner A
J Neurol 1984;231(5):237-43. doi: 10.1007/BF00313658. PMID: 6394723

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