title: Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration.
abstract: The vascular type represents a very rare, yet the clinically most fatal entity of Ehlers-Danlos syndrome (EDS). Patients are often admitted due to arterial bleedings and the friable tissue and the altered coagulation contribute to the challenge in treatment strategies. Until now there is little information about clotting characteristics that might influence hemostasis decisively and eventually worsen emergency situations.
  
  
  
  22 vascular type EDS patients were studied for hemoglobin, platelet volume and count, Quick and activated partial thromboplastin time, fibrinogen, factor XIII, von Willebrand disease, vitamin D and platelet aggregation by modern standard laboratory methods. Results show a high prevalence of over 50 % for platelet aggregation disorders in vascular type EDS patients, especially for collagen and epinephrine induced tests, whereas the plasmatic cascade did not show any alterations. Additionally, more than half of the tested subjects showed low vitamin D serum levels, which might additionally affect vascular wall integrity.
  
  
  
  The presented data underline the importance of detailed laboratory screening methods in vascular type EDS patients in order to allow for targeted application of platelet-interacting substances that might be of decisive benefit in the emergency setting.
authors.affiliation: Department for General, Visceral, Vascular & Paediatric Surgery, University Hospital of Würzburg - ZOM, Oberduerrbacher str 6, 97080, Würzburg, Germany. busch_a2@ukw.de.
authors.forename: Albert
authors.initials: A
authors.lastname: Busch
authors.affiliation: Department of Human Genetics, Ruhr-University, Bochum, Germany.
authors.forename: Sabine
authors.initials: S
authors.lastname: Hoffjan
authors.affiliation: MVZ wagnerstibbe, amedes Gruppe, Hannover, Germany.
authors.forename: Frauke
authors.initials: F
authors.lastname: Bergmann
authors.affiliation: Institute of Clinical Chemistry, University Hospital Würzburg, Würzburg, Germany.
authors.forename: Birgit
authors.initials: B
authors.lastname: Hartung
authors.affiliation: Institute for medical genetics and molecular medicine, Cologne, Germany.
authors.forename: Helena
authors.initials: H
authors.lastname: Jung
authors.affiliation: synlab MVZ Stuttgart GmbH, Stuttgart, Germany.
authors.forename: Daniela
authors.initials: D
authors.lastname: Hanel
authors.affiliation: Institute of Clinical Genetics, Technische Universität Dresden, Dresden, Germany.|UniversitätsCentrum für Seltene Erkrankungen, University Hospital Carl Gustav Carus, Dresden, Germany.
authors.forename: Andeas
authors.initials: A
authors.lastname: Tzschach
authors.affiliation: Laboratory for Transfusion Medicine, Cologne, Germany.
authors.forename: Janos
authors.initials: J
authors.lastname: Kadar
authors.affiliation: Department of Cardiology, University Heart Center, University Hospital Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Yskert
authors.initials: Y
authors.lastname: von Kodolitsch
authors.affiliation: Department for General, Visceral, Vascular & Paediatric Surgery, University Hospital of Würzburg - ZOM, Oberduerrbacher str 6, 97080, Würzburg, Germany.
authors.forename: Christoph-Thomas
authors.initials: CT
authors.lastname: Germer
authors.affiliation: Laboratory and Ambulance for Coagulation Disorders, Duisburg, Germany.
authors.forename: Heiner
authors.initials: H
authors.lastname: Trobisch
authors.affiliation: Transfusion Medicine and Haemostaseology Department, University Hospital Erlangen, Erlangen, Germany.
authors.forename: Erwin
authors.initials: E
authors.lastname: Strasser
authors.affiliation: Department for General, Visceral, Vascular & Paediatric Surgery, University Hospital of Würzburg - ZOM, Oberduerrbacher str 6, 97080, Würzburg, Germany.
authors.forename: René
authors.initials: R
authors.lastname: Wildenauer
mesh_terms: D000328:Adult; D000368:Aged; D001777:Blood Coagulation / Q000502:physiology; D001780:Blood Coagulation Tests; D001792:Blood Platelets / Q000502:physiology*; D004535:Ehlers-Danlos Syndrome / Q000097:blood* / Q000378:metabolism / Q000503:physiopathology*; D005176:Factor XIII / Q000378:metabolism; D005260:Female; D005340:Fibrinogen / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D014807:Vitamin D / Q000097:blood*; D055815:Young Adult; D014841:von Willebrand Factor / Q000378:metabolism
chemical_list: C029417:Von Willebrand antigen; D014841:von Willebrand Factor; D014807:Vitamin D; D005340:Fibrinogen; D005176:Factor XIII
keywords: Bleeding disorder; EDS; Platelet dysfunction; Vascular type Ehlers-Danlos syndrome; Vitamin D