A Review on Ehlers-Danlos SyndromeA Review on Ehlers-Danlos Syndrome
Journal Title: International Journal of Health Sciences and Research - Year 2017, Vol 7, Issue 8
Abstract
Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affect the connective tissues primarily skin, joints, and blood vessel walls. Connective tissue is a complex mixture of proteins and other substances that provides strength and elasticity to the underlying structures in the body. People who have Ehlers-Danlos syndrome usually have overly flexible joints and stretchy, fragile skin. This can become a problem if a person has a wound that requires stitches, because the skin often is not strong enough to hold them. A more severe form of the disorder, called vascular Ehlers-Danlos syndrome, can cause the walls of the blood vessels, intestines or uterus to rupture. If a person has a vascular Ehlers-Danlos syndrome, he/she may want to talk to a genetic counselor before starting a family. EDS is typically classified into six types like The Classical type (formerly types I and II), The Hyper mobility type (type III), The Vascular type (type IV), The Kyphoscoliosis type (type VI), The Arthrochalasial type (type VIIA and VIIB), The Dermatosparaxis type (type VIIC). The combined frequency of EDS is 1 in 5000 individuals worldwide. Major mutations in COL5A1 gene and COL5A2 genes are responsible for EDS. There is more chance to autosomal inheritance of EDS. There is no specific therapy to cure Ehlers-Danlos syndrome. Physical therapy is often needed. Some of the other medications are under different phases of clinical trials.
Authors and Affiliations
V. Jagadeesh Naik
Keywords
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