The Elhers-Danlos syndrome: an insidious pathology. Presentation of a familiary group.
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Abstract
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.