La sindrome di Elhers-Danlos: una patologia insidiosa. Presentazione di un gruppo familiare

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COD: 01_2010_031-36 Categorie: ,

Andrea Giordani, Gregorio Tugnoli, Salomone di Saverio, Silvia Villani, Andrea Biscardi, Gianluca Senatore, Eleonora Giorgini, Franco Baldoni

Ann. Ital. Chir., 2010; 81: 31-35

 

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INTRODUCTION: Elhers-Danlos Syndrome (EDS) is an hereditary disease of the connective tissue, which may have clinical
appearances varying in its severity from subclinical asymptomatic forms up to dramatic uncontrollable haemorrhage.
MATERIALS AND METHODs: We have observed three siblings who were carriers of vascular type EDS. They were otherwise
healthy at the time of the disease presentation and have become symptomatic since then, developing severe and
uncontrollable haemorrhage.
RESULTS: We have reported the clinical presentation of this syndrome, the clinical and laboratory characteristics, the treatment
and the outcome.
CONCLUSIONS: Although the severity of this disease, Elhers-Danlos Syndrome becomes symptomatic lately and suddenly in
its course, often during emergency surgery for haemorrhagic shock. Several issues are raised such as the possibility for early
diagnosis of this disease, the psychological features of a genetic counseling, the need for the patients to have adequate
lifestyle and last but not least the risk of genetic transmission of the disease.

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