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Family History of Ehlers-Danlos Syndrome

MedGen UID:
1714545
•Concept ID:
C5238700
•
Finding

Definition

A history of a first-degree relative with Ehlers-Danlos syndrome. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamily History of Ehlers-Danlos Syndrome

Professional guidelines

PubMed

Cervical Artery Dissections: Etiopathogenesis and Management.
Keser Z, Chiang CC, Benson JC, Pezzini A, Lanzino G
Vasc Health Risk Manag 2022;18:685-700. Epub 2022 Sep 2 doi: 10.2147/VHRM.S362844. PMID: 36082197Free PMC Article
Role of Clinical Genetic Testing in the Management of Aortopathies.
Harris SL, Lindsay ME
Curr Cardiol Rep 2021 Jan 21;23(2):10. doi: 10.1007/s11886-020-01435-6. PMID: 33475873
Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome.
Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, Wheeldon N
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):40-47. doi: 10.1002/ajmg.c.31553. PMID: 28306228

Recent clinical studies

Etiology

Cervical Artery Dissections: Etiopathogenesis and Management.
Keser Z, Chiang CC, Benson JC, Pezzini A, Lanzino G
Vasc Health Risk Manag 2022;18:685-700. Epub 2022 Sep 2 doi: 10.2147/VHRM.S362844. PMID: 36082197Free PMC Article
Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome.
Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, Wheeldon N
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):40-47. doi: 10.1002/ajmg.c.31553. PMID: 28306228
A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling.
Hitchcock E, Gibson WT
J Genet Couns 2017 Feb;26(1):21-31. Epub 2016 Oct 14 doi: 10.1007/s10897-016-0029-8. PMID: 27743245Free PMC Article
Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests.
Sobey G
Arch Dis Child 2015 Jan;100(1):57-61. Epub 2014 Jul 3 doi: 10.1136/archdischild-2013-304822. PMID: 24994860
Aorta pathology and pregnancy.
van Hagen IM, Roos-Hesselink JW
Best Pract Res Clin Obstet Gynaecol 2014 May;28(4):537-50. Epub 2014 Mar 27 doi: 10.1016/j.bpobgyn.2014.03.007. PMID: 24726851

Diagnosis

Ehlers-Danlos syndromes.
Ghali N, Sobey G, Burrows N
BMJ 2019 Sep 18;366:l4966. doi: 10.1136/bmj.l4966. PMID: 31533917
Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome.
Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, Wheeldon N
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):40-47. doi: 10.1002/ajmg.c.31553. PMID: 28306228
A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling.
Hitchcock E, Gibson WT
J Genet Couns 2017 Feb;26(1):21-31. Epub 2016 Oct 14 doi: 10.1007/s10897-016-0029-8. PMID: 27743245Free PMC Article
Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests.
Sobey G
Arch Dis Child 2015 Jan;100(1):57-61. Epub 2014 Jul 3 doi: 10.1136/archdischild-2013-304822. PMID: 24994860
Single-gene stroke disorders.
Majersik JJ, Skalabrin EJ
Semin Neurol 2006 Feb;26(1):33-48. doi: 10.1055/s-2006-933307. PMID: 16479442

Therapy

Despite celiprolol therapy, patients with vascular Ehlers-Danlos syndrome remain at risk of vascular events: A 12-year experience in an Italian referral center.
Buso G, Paini A, Agabiti-Rosei C, De Ciuceis C, Bertacchini F, Stassaldi D, Salvetti M, Ritelli M, Venturini M, Colombi M, Muiesan ML
Vasc Med 2024 Jun;29(3):265-273. Epub 2023 Dec 16 doi: 10.1177/1358863X231215330. PMID: 38102934
A Retrospective Cohort Study of Cerebrovascular Fibromuscular Dysplasia.
Kythreotou A, Weerakkody RA, Koysombat K, Marzouqa N, Baker DM
Ann Vasc Surg 2023 May;92:104-110. Epub 2023 Jan 13 doi: 10.1016/j.avsg.2022.12.092. PMID: 36642164
Celiprolol Treatment in Patients with Vascular Ehlers-Danlos Syndrome.
Baderkhan H, Wanhainen A, Stenborg A, Stattin EL, Björck M
Eur J Vasc Endovasc Surg 2021 Feb;61(2):326-331. Epub 2020 Nov 20 doi: 10.1016/j.ejvs.2020.10.020. PMID: 33223285
Clinical Features and Associations of Descending Perineum Syndrome in 300 Adults with Constipation in Gastroenterology Referral Practice.
Wang XJ, Chedid V, Vijayvargiya P, Camilleri M
Dig Dis Sci 2020 Dec;65(12):3688-3695. Epub 2020 Jul 14 doi: 10.1007/s10620-020-06394-0. PMID: 32666237Free PMC Article
Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes.
Shalhub S, Black JH 3rd, Cecchi AC, Xu Z, Griswold BF, Safi HJ, Milewicz DM, McDonnell NB
J Vasc Surg 2014 Jul;60(1):160-9. Epub 2014 Mar 18 doi: 10.1016/j.jvs.2014.01.070. PMID: 24650746Free PMC Article

Prognosis

Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities.
Fajardo-Jiménez MJ, Tejada-Moreno JA, Mejía-García A, Villegas-Lanau A, Zapata-Builes W, Restrepo JE, Cuartas GP, Hernandez JC
Genes (Basel) 2022 Nov 15;13(11) doi: 10.3390/genes13112118. PMID: 36421793Free PMC Article
Are patients with hypermobile Ehlers-Danlos syndrome or hypermobility spectrum disorder so different?
Aubry-Rozier B, Schwitzguebel A, Valerio F, Tanniger J, Paquier C, Berna C, Hügle T, Benaim C
Rheumatol Int 2021 Oct;41(10):1785-1794. Epub 2021 Aug 16 doi: 10.1007/s00296-021-04968-3. PMID: 34398260Free PMC Article
Celiprolol Treatment in Patients with Vascular Ehlers-Danlos Syndrome.
Baderkhan H, Wanhainen A, Stenborg A, Stattin EL, Björck M
Eur J Vasc Endovasc Surg 2021 Feb;61(2):326-331. Epub 2020 Nov 20 doi: 10.1016/j.ejvs.2020.10.020. PMID: 33223285
A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis.
Shalhub S, Byers PH, Hicks KL, Coleman DM, Davis FM, De Caridi G, Weaver KN, Miller EM, Schermerhorn ML, Shean K, Oderich G, Ribeiro M, Nishikawa C, Charlton-Ouw K, Behrendt CA, Debus ES, von Kodolitsch Y, Zarkowsky D, Powell RJ, Pepin M, Milewicz DM, Regalado ES, Lawrence PF, Woo K
J Vasc Surg 2020 Jan;71(1):149-157. Epub 2019 Jul 26 doi: 10.1016/j.jvs.2019.04.487. PMID: 31353273Free PMC Article
A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling.
Hitchcock E, Gibson WT
J Genet Couns 2017 Feb;26(1):21-31. Epub 2016 Oct 14 doi: 10.1007/s10897-016-0029-8. PMID: 27743245Free PMC Article

Clinical prediction guides

Celiprolol Treatment in Patients with Vascular Ehlers-Danlos Syndrome.
Baderkhan H, Wanhainen A, Stenborg A, Stattin EL, Björck M
Eur J Vasc Endovasc Surg 2021 Feb;61(2):326-331. Epub 2020 Nov 20 doi: 10.1016/j.ejvs.2020.10.020. PMID: 33223285
Prevalence of hypermobile Ehlers-Danlos syndrome in postural orthostatic tachycardia syndrome.
Miller AJ, Stiles LE, Sheehan T, Bascom R, Levy HP, Francomano CA, Arnold AC
Auton Neurosci 2020 Mar;224:102637. Epub 2020 Jan 10 doi: 10.1016/j.autneu.2020.102637. PMID: 31954224Free PMC Article
A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis.
Shalhub S, Byers PH, Hicks KL, Coleman DM, Davis FM, De Caridi G, Weaver KN, Miller EM, Schermerhorn ML, Shean K, Oderich G, Ribeiro M, Nishikawa C, Charlton-Ouw K, Behrendt CA, Debus ES, von Kodolitsch Y, Zarkowsky D, Powell RJ, Pepin M, Milewicz DM, Regalado ES, Lawrence PF, Woo K
J Vasc Surg 2020 Jan;71(1):149-157. Epub 2019 Jul 26 doi: 10.1016/j.jvs.2019.04.487. PMID: 31353273Free PMC Article
Periodontal Ehlers-Danlos syndrome is associated with leukoencephalopathy.
Kapferer-Seebacher I, Waisfisz Q, Boesch S, Bronk M, van Tintelen P, Gizewski ER, Groebner R, Zschocke J, van der Knaap MS
Neurogenetics 2019 Mar;20(1):1-8. Epub 2018 Dec 8 doi: 10.1007/s10048-018-0560-x. PMID: 30535813Free PMC Article
A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling.
Hitchcock E, Gibson WT
J Genet Couns 2017 Feb;26(1):21-31. Epub 2016 Oct 14 doi: 10.1007/s10897-016-0029-8. PMID: 27743245Free PMC Article

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