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Pure autonomic failure

MedGen UID:
98293
•Concept ID:
C0393911
•
Disease or Syndrome
Synonyms: Bradbury-Eggleston syndrome; Idiopathic orthostatic hypotension (a symptom); Orthostatic hypotension (a symptom)
SNOMED CT: Bradbury-Eggleston syndrome (84438001); Pure autonomic failure (84438001); Autonomic failure (84438001)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0018608
OMIM®: 146500
Orphanet: ORPHA441

Definition

Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension. [from ORDO]

Professional guidelines

PubMed

Pharmacologic treatment of orthostatic hypotension.
Park JW, Okamoto LE, Shibao CA, Biaggioni I
Auton Neurosci 2020 Dec;229:102721. Epub 2020 Aug 28 doi: 10.1016/j.autneu.2020.102721. PMID: 32979782Free PMC Article
Autonomic dysfunction in Parkinson's disease: Implications for pathophysiology, diagnosis, and treatment.
Chen Z, Li G, Liu J
Neurobiol Dis 2020 Feb;134:104700. Epub 2019 Dec 3 doi: 10.1016/j.nbd.2019.104700. PMID: 31809788
Autonomic dysfunction: Diagnosis and management.
Rafanelli M, Walsh K, Hamdan MH, Buyan-Dent L
Handb Clin Neurol 2019;167:123-137. doi: 10.1016/B978-0-12-804766-8.00008-X. PMID: 31753129

Recent clinical studies

Etiology

Skin Biopsy Detection of Phosphorylated α-Synuclein in Patients With Synucleinopathies.
Gibbons CH, Levine T, Adler C, Bellaire B, Wang N, Stohl J, Agarwal P, Aldridge GM, Barboi A, Evidente VGH, Galasko D, Geschwind MD, Gonzalez-Duarte A, Gil R, Gudesblatt M, Isaacson SH, Kaufmann H, Khemani P, Kumar R, Lamotte G, Liu AJ, McFarland NR, Miglis M, Reynolds A, Sahagian GA, Saint-Hillaire MH, Schwartzbard JB, Singer W, Soileau MJ, Vernino S, Yerstein O, Freeman R
JAMA 2024 Apr 16;331(15):1298-1306. doi: 10.1001/jama.2024.0792. PMID: 38506839Free PMC Article
Phenoconversion in pure autonomic failure: a multicentre prospective longitudinal cohort study.
Millar Vernetti P, Norcliffe-Kaufmann L, Palma JA, Biaggioni I, Shibao CA, Peltier A, Freeman R, Gibbons C, Goldstein DS, Low PA, Singer W, Coon EA, Miglis MG, Wenning GK, Fanciulli A, Vernino S, Betensky RA, Kaufmann H
Brain 2024 Jul 5;147(7):2440-2448. doi: 10.1093/brain/awae033. PMID: 38366572Free PMC Article
Synucleinopathies.
Lamotte G, Singer W
Handb Clin Neurol 2023;196:175-202. doi: 10.1016/B978-0-323-98817-9.00032-6. PMID: 37620069
Seed amplification assay for the detection of pathologic alpha-synuclein aggregates in cerebrospinal fluid.
Concha-Marambio L, Pritzkow S, Shahnawaz M, Farris CM, Soto C
Nat Protoc 2023 Apr;18(4):1179-1196. Epub 2023 Jan 18 doi: 10.1038/s41596-022-00787-3. PMID: 36653527Free PMC Article
Dysautonomia: A Forgotten Condition - Part 1.
Rocha EA, Mehta N, Távora-Mehta MZP, Roncari CF, Cidrão AAL, Elias Neto J
Arq Bras Cardiol 2021 Apr;116(4):814-835. doi: 10.36660/abc.20200420. PMID: 33886735Free PMC Article

Diagnosis

An update on multiple system atrophy.
Stankovic I, Kuijpers M, Kaufmann H
Curr Opin Neurol 2024 Aug 1;37(4):400-408. Epub 2024 Jun 3 doi: 10.1097/WCO.0000000000001285. PMID: 38828714Free PMC Article
Pharmacologic treatment of orthostatic hypotension.
Park JW, Okamoto LE, Shibao CA, Biaggioni I
Auton Neurosci 2020 Dec;229:102721. Epub 2020 Aug 28 doi: 10.1016/j.autneu.2020.102721. PMID: 32979782Free PMC Article
Autonomic dysfunction in Parkinson's disease: Implications for pathophysiology, diagnosis, and treatment.
Chen Z, Li G, Liu J
Neurobiol Dis 2020 Feb;134:104700. Epub 2019 Dec 3 doi: 10.1016/j.nbd.2019.104700. PMID: 31809788
Autonomic dysfunction: Diagnosis and management.
Rafanelli M, Walsh K, Hamdan MH, Buyan-Dent L
Handb Clin Neurol 2019;167:123-137. doi: 10.1016/B978-0-12-804766-8.00008-X. PMID: 31753129
Orthostatic Hypotension: JACC State-of-the-Art Review.
Freeman R, Abuzinadah AR, Gibbons C, Jones P, Miglis MG, Sinn DI
J Am Coll Cardiol 2018 Sep 11;72(11):1294-1309. doi: 10.1016/j.jacc.2018.05.079. PMID: 30190008

Therapy

An update on multiple system atrophy.
Stankovic I, Kuijpers M, Kaufmann H
Curr Opin Neurol 2024 Aug 1;37(4):400-408. Epub 2024 Jun 3 doi: 10.1097/WCO.0000000000001285. PMID: 38828714Free PMC Article
Synuclein-One study: skin biopsy detection of phosphorylated α-synuclein for diagnosis of synucleinopathies.
Gibbons CH, Freeman R, Bellaire B, Adler CH, Moore D, Levine T
Biomark Med 2022 May;16(7):499-509. Epub 2022 Mar 11 doi: 10.2217/bmm-2021-0646. PMID: 35272481Free PMC Article
Autonomic dysfunction in Parkinson's disease: Implications for pathophysiology, diagnosis, and treatment.
Chen Z, Li G, Liu J
Neurobiol Dis 2020 Feb;134:104700. Epub 2019 Dec 3 doi: 10.1016/j.nbd.2019.104700. PMID: 31809788
Mechanisms of hypoglycemia-associated autonomic failure in diabetes.
Cryer PE
N Engl J Med 2013 Jul 25;369(4):362-72. doi: 10.1056/NEJMra1215228. PMID: 23883381
Vagolysis.
Hutchinson CD, Jardine DL, Hurrell M
Age Ageing 2008 Sep;37(5):602-4. Epub 2008 Jun 12 doi: 10.1093/ageing/afn105. PMID: 18556705

Prognosis

An update on multiple system atrophy.
Stankovic I, Kuijpers M, Kaufmann H
Curr Opin Neurol 2024 Aug 1;37(4):400-408. Epub 2024 Jun 3 doi: 10.1097/WCO.0000000000001285. PMID: 38828714Free PMC Article
Dysautonomia: A Forgotten Condition - Part 1.
Rocha EA, Mehta N, Távora-Mehta MZP, Roncari CF, Cidrão AAL, Elias Neto J
Arq Bras Cardiol 2021 Apr;116(4):814-835. doi: 10.36660/abc.20200420. PMID: 33886735Free PMC Article
Autonomic dysfunction in Parkinson's disease: Implications for pathophysiology, diagnosis, and treatment.
Chen Z, Li G, Liu J
Neurobiol Dis 2020 Feb;134:104700. Epub 2019 Dec 3 doi: 10.1016/j.nbd.2019.104700. PMID: 31809788
Pure Autonomic Failure.
Coon EA, Singer W, Low PA
Mayo Clin Proc 2019 Oct;94(10):2087-2098. Epub 2019 Sep 9 doi: 10.1016/j.mayocp.2019.03.009. PMID: 31515103Free PMC Article
Pure Autonomic Failure.
Thaisetthawatkul P
Curr Neurol Neurosci Rep 2016 Aug;16(8):74. doi: 10.1007/s11910-016-0673-2. PMID: 27338613

Clinical prediction guides

An update on multiple system atrophy.
Stankovic I, Kuijpers M, Kaufmann H
Curr Opin Neurol 2024 Aug 1;37(4):400-408. Epub 2024 Jun 3 doi: 10.1097/WCO.0000000000001285. PMID: 38828714Free PMC Article
Phenoconversion in pure autonomic failure: a multicentre prospective longitudinal cohort study.
Millar Vernetti P, Norcliffe-Kaufmann L, Palma JA, Biaggioni I, Shibao CA, Peltier A, Freeman R, Gibbons C, Goldstein DS, Low PA, Singer W, Coon EA, Miglis MG, Wenning GK, Fanciulli A, Vernino S, Betensky RA, Kaufmann H
Brain 2024 Jul 5;147(7):2440-2448. doi: 10.1093/brain/awae033. PMID: 38366572Free PMC Article
An overview on pure autonomic failure.
Pavy-Le Traon A, Foubert-Samier A, Fabbri M
Rev Neurol (Paris) 2024 Jan-Feb;180(1-2):94-100. Epub 2023 Dec 20 doi: 10.1016/j.neurol.2023.11.003. PMID: 38129276
Pure autonomic failure and the differential diagnosis of autonomic peripheral neuropathies.
González-Duarte A, Varma-Doyle A, Freeman R
Curr Opin Neurol 2021 Oct 1;34(5):675-682. doi: 10.1097/WCO.0000000000000985. PMID: 34392300
Autonomic dysfunction in Parkinson's disease: Implications for pathophysiology, diagnosis, and treatment.
Chen Z, Li G, Liu J
Neurobiol Dis 2020 Feb;134:104700. Epub 2019 Dec 3 doi: 10.1016/j.nbd.2019.104700. PMID: 31809788

Recent systematic reviews

Biofluid Detection of Pathological α-Synuclein in the Prodromal Phase of Synucleinopathies.
Kluge A, Iranzo A
J Parkinsons Dis 2024;14(s2):S323-S331. doi: 10.3233/JPD-230429. PMID: 38995801Free PMC Article
Hemodynamic Effects of the Osmopressor Response: A Systematic Review and Meta-Analysis.
Oyewunmi OA, Lei LY, Laurin JKH, Morillo CA, Sheldon RS, Raj SR
J Am Heart Assoc 2023 Nov 7;12(21):e029645. Epub 2023 Nov 6 doi: 10.1161/JAHA.122.029645. PMID: 37929748Free PMC Article
Post-Traumatic Stress Disorder and Risk of Degenerative Synucleinopathies: Systematic Review and Meta-Analysis.
Jones MB, Gates R, Gibson L, Broadway D, Bhatti G, Tea J, Guerra A, Li R, Varman B, Elammari M, Jorge RE, Marsh L
Am J Geriatr Psychiatry 2023 Nov;31(11):978-990. Epub 2023 May 3 doi: 10.1016/j.jagp.2023.04.016. PMID: 37236879Free PMC Article
The potential prognostic role of cardiovascular autonomic failure in α-synucleinopathies.
Fanciulli A, Strano S, Colosimo C, Caltagirone C, Spalletta G, Pontieri FE
Eur J Neurol 2013 Feb;20(2):231-5. Epub 2012 Jul 27 doi: 10.1111/j.1468-1331.2012.03819.x. PMID: 22834919

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