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Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome : a systematic review

Sanne D'hondt (UGent) , Tim Van Damme (UGent) and Fransiska Malfait (UGent)
(2018) GENETICS IN MEDICINE. 20(6). p.562-573
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Abstract
Purpose: Within the spectrum of the Ehlers-Danlos syndromes (EDS), vascular complications are usually associated with the vascular subtype of EDS. Vascular complications are also observed in other EDS subtypes, but the reports are anecdotal and the information is dispersed. To better document the nature of vascular complications among "nonvascular" EDS subtypes, we performed a systematic review. Methods: We queried three databases for English-language studies from inception until May 2017, documenting both phenotypes and genotypes of patients with nonvascular EDS subtypes. The outcome included the number and nature of vascular complications. Results: A total of 112 papers were included and data were collected from 467 patients, of whom 77 presented with a vascular phenotype. Severe complications included mainly hematomas (53%), frequently reported in musculocontractural and classical-like EDS; intracranial hemorrhages (18%), with a high risk in dermatosparaxis EDS; and arterial dissections (16%), frequently reported in kyphoscoliotic and classical EDS. Other, more minor, vascular complications were reported in cardiac-valvular, arthrochalasia, spondylodysplastic, and periodontal EDS. Conclusion: Potentially life-threatening vascular complications are a rare but important finding in several nonvascular EDS subtypes, highlighting a need for more systematic documentation. This review will help familiarize clinicians with the spectrum of vascular complications in EDS and guide follow-up and management.
Keywords
connective tissue disorder, Ehlers-Danlos syndrome, nonvascular subtype, systematic review, vascular complication, BRITTLE CORNEA SYNDROME, SYNDROME TYPE-VI, THUMB-CLUBFOOT SYNDROME, SYNDROME TYPE-I, TENASCIN-X DEFICIENCY, SPLICE ACCEPTOR SITE, KYPHOSCOLIOTIC TYPE, SYNDROME EDS, COL1A2 GENE, EXTRACELLULAR-MATRIX

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Chicago
D’hondt, Sanne, Tim Van Damme, and Fransiska Malfait. 2018. “Vascular Phenotypes in Nonvascular Subtypes of the Ehlers-Danlos Syndrome : a Systematic Review.” Genetics in Medicine 20 (6): 562–573.
APA
D’hondt, Sanne, Van Damme, T., & Malfait, F. (2018). Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome : a systematic review. GENETICS IN MEDICINE, 20(6), 562–573.
Vancouver
1.
D’hondt S, Van Damme T, Malfait F. Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome : a systematic review. GENETICS IN MEDICINE. 2018;20(6):562–73.
MLA
D’hondt, Sanne, Tim Van Damme, and Fransiska Malfait. “Vascular Phenotypes in Nonvascular Subtypes of the Ehlers-Danlos Syndrome : a Systematic Review.” GENETICS IN MEDICINE 20.6 (2018): 562–573. Print.
@article{8540056,
  abstract     = {Purpose: Within the spectrum of the Ehlers-Danlos syndromes (EDS), vascular complications are usually associated with the vascular subtype of EDS. Vascular complications are also observed in other EDS subtypes, but the reports are anecdotal and the information is dispersed. To better document the nature of vascular complications among "nonvascular" EDS subtypes, we performed a systematic review. 
Methods: We queried three databases for English-language studies from inception until May 2017, documenting both phenotypes and genotypes of patients with nonvascular EDS subtypes. The outcome included the number and nature of vascular complications. 
Results: A total of 112 papers were included and data were collected from 467 patients, of whom 77 presented with a vascular phenotype. Severe complications included mainly hematomas (53%), frequently reported in musculocontractural and classical-like EDS; intracranial hemorrhages (18%), with a high risk in dermatosparaxis EDS; and arterial dissections (16%), frequently reported in kyphoscoliotic and classical EDS. Other, more minor, vascular complications were reported in cardiac-valvular, arthrochalasia, spondylodysplastic, and periodontal EDS. 
Conclusion: Potentially life-threatening vascular complications are a rare but important finding in several nonvascular EDS subtypes, highlighting a need for more systematic documentation. This review will help familiarize clinicians with the spectrum of vascular complications in EDS and guide follow-up and management.},
  author       = {D'hondt, Sanne and Van Damme, Tim and Malfait, Fransiska},
  issn         = {1098-3600},
  journal      = {GENETICS IN MEDICINE},
  keywords     = {connective tissue disorder,Ehlers-Danlos syndrome,nonvascular subtype,systematic review,vascular complication,BRITTLE CORNEA SYNDROME,SYNDROME TYPE-VI,THUMB-CLUBFOOT SYNDROME,SYNDROME TYPE-I,TENASCIN-X DEFICIENCY,SPLICE ACCEPTOR SITE,KYPHOSCOLIOTIC TYPE,SYNDROME EDS,COL1A2 GENE,EXTRACELLULAR-MATRIX},
  language     = {eng},
  number       = {6},
  pages        = {562--573},
  title        = {Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome : a systematic review},
  url          = {http://dx.doi.org/10.1038/gim.2017.138},
  volume       = {20},
  year         = {2018},
}

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