GENETIC AND CLINICAL PERSPECTIVES ON EHLERS-DANLOS SYNDROME: AN UPDATED REVIEW

Saroj Kumari*, Priya Sharma, Vikramjeet Singh, Kritika and Swati Sharma

ABSTRACT

Ehlers-Danlos Syndrome (EDS) is a collection of inherited disorders of connective tissues which are due to disturbances in the synthesis, structure, and function of collagen. This article discusses the genetics, clinical features, diagnosis, and management of the various types of EDS. The typical features of the disorder include skin which can be stretched easily, showing other symptoms like hypermobility of joints and easy bruising of blood vessels, but with less severity and less symptoms in some types. Over the years, mechanism of EDS development and genetic polymorphism responsible for the disease has become clearer, however treatment is still complicated and predominantly palliative. This is to review the present state of affairs with an emphasis on the recent improvements in diagnosis and the possibilities of treatment using new drugs, while including the effects of this illness on patients and problems related to care.

Keywords: Ehlers-Danlos Syndrome, EDS, inherited disorders, connective tissues, collagen synthesis.