Multiple contemporary arterial dissection in Ehlers-Danlos syndrome type IV

  • Anna Rocci | arocci@ao.pr.it Angiology Unit, Parma University Hospital, Parma, Italy.
  • Enrico Paganelli Angiology Unit, Parma University Hospital, Parma, Italy.
  • Angelo Rossetti Angiology Unit, Parma University Hospital, Parma, Italy.
  • Carla Marcato Radiology Unit, Parma University Hospital, Parma, Italy.
  • Davide Martorana Unit of Medical Genetics, Parma University Hospital, Parma, Italy.
  • Maria Ilaria Tassoni Angiology Unit, Parma University Hospital, Parma, Italy.
  • Roberto Quintavalla Angiology Unit, Parma University Hospital, Parma, Italy.

Abstract

We report a case of multiple spontaneous arteries dissection in a 52-year-old female; the patient had a relevant family history of vascular complications and typical features so we hypothesized vascular Ehlers-Danlos syndrome (EDS) that was confirmed by genetic analysis of COL3A1 gene. We adopted a conservative approach: the patient was treated with heparin in the acute phase followed by aspirin and then celiprolol was started on the basis of a recent trial that demonstrates a reduction in arterial events in EDS patient treated. A careful follow-up was done with Doppler ultrasound and computed tomography scan, as non-invasive diagnostic techniques are preferred in these patients, and no other vascular symptomatic events have occurred. We tested all living relatives: half of them had COL3A1 mutation, they were referred to another center specialized in rare diseases and EDS for long-term follow-up and genetic counseling. This case demonstrates as a careful evaluation of clinical signs, clinical history of the patient and his family has allowed a definitive diagnosis, proper management of the patient during the acute event and in terms of prophylaxis of recurrence.

Downloads

Download data is not yet available.
Published
2015-03-20
Section
Case Reports
Keywords:
Ehlers-Danlos syndrome, arterial dissection.
Statistics
Abstract views: 1311

PDF: 581
HTML: 762
Share it

PlumX Metrics

PlumX Metrics provide insights into the ways people interact with individual pieces of research output (articles, conference proceedings, book chapters, and many more) in the online environment. Examples include, when research is mentioned in the news or is tweeted about. Collectively known as PlumX Metrics, these metrics are divided into five categories to help make sense of the huge amounts of data involved and to enable analysis by comparing like with like.

How to Cite
Rocci, A., Paganelli, E., Rossetti, A., Marcato, C., Martorana, D., Tassoni, M. I., & Quintavalla, R. (2015). Multiple contemporary arterial dissection in Ehlers-Danlos syndrome type IV. Italian Journal of Medicine, 9(1), 77-81. https://doi.org/10.4081/itjm.2015.494