Resumo

QUISPE PARI, Gabriela Diana. Sindrome de Ehlers Danlos (SED). Rev. Act. Clin. Med [online]. 2014, vol.45, pp. 2362-2367. ISSN 2304-3768.

ABSTRACT Ehlers Danlos Syndrome is an inherited disease caused by chromosomal mutations, which can have dominant, autosomal recessive or behavior linked to chromosome X. This disease is mainly characterized by defects in collagen production, a result of damage present in the enzymes responsible for the synthesis thereof. The variety with which they pose, being seen as heterogeneous, so major types of the disorder, each with similar signs and symptoms but with different progression and evolution, presenting common, joint hyperrmobility stand, hyperextensibility hiperequimosis skin and fragility of the blood vessels. Currently there is no specific treatment for this disease, as people who have it can live a normal daily life, except for those that have the vascular type, where all components hematovasculares both organs such as blood vessels, suffering severed their walls, which shorten the life expectancy of the patient.

Palavras-chave : Syndrome; Collagenopathies; Gen Autosomal Dominant; Autosomal recessive gene.