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Early venous manifestation of Ehlers-Danlos syndrome Type IV through a novel mutation in COL3A1

Ehlers-Danlos syndrome (EDS) leads to abnormalities in the synthesis of collagen and complications involving arterial vessels. We describe here a mutation in the intron 14 of the COL3A1 gene leading to EDS Type IV (EDS IV) associated with venous manifestations only. The patient, an 18-year-old male,...

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Bibliographic Details
Main Authors: Wendorff, Heiko (Author) , Pelisek, Jaroslav (Author) , Zimmermann, Alexander (Author) , Mayer, Karin (Author) , Seidel, Heide (Author) , Weirich, Gregor (Author) , Haußer-Siller, Ingrid (Author) , Siegel, Corinna (Author) , Zernecke, Alma (Author) , Eckstein, Hans-Henning (Author)
Format: Article (Journal)
Language:English
Published: 17 May 2013
In: Cardiovascular pathology
Year: 2013, Volume: 22, Issue: 6, Pages: 488-492
ISSN:1879-1336
DOI:10.1016/j.carpath.2013.04.003
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.carpath.2013.04.003
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S1054880713001130
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Author Notes:Heiko Wendorff, Jaroslav Pelisek, Alexander Zimmermann, Karin Mayer, Heide Seidel, Gregor Weirich, Ingrid Hausser, Corinna Siegel, Alma Zernecke, Hans-Henning Eckstein
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Summary:Ehlers-Danlos syndrome (EDS) leads to abnormalities in the synthesis of collagen and complications involving arterial vessels. We describe here a mutation in the intron 14 of the COL3A1 gene leading to EDS Type IV (EDS IV) associated with venous manifestations only. The patient, an 18-year-old male, suffered from truncal varicosity of the long saphenous vein on both sides. Conventional stripping surgery of the left saphenous vein revealed an extremely vulnerable ectatic superficial femoral vein. An inserted vein graft occluded, and venous thrombectomy was unsuccessful. A conservative anticoagulant and compression therapy finally succeeded. This is the first report describing EDS IV due to a mutation in intron 14 of the COL3A1 gene leading to venous manifestations without affecting arterial vessels at clinical presentation. Our findings imply that molecular genetic analysis should be considered in patients with unusual clinical presentation and that conservative therapy should be applied until a suspected clinical diagnosis has been secured.
Item Description:Gesehen am 02.11.2021
Physical Description:Online Resource
ISSN:1879-1336
DOI:10.1016/j.carpath.2013.04.003

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