Ehlers-Danlos Syndrome (EDS) is a group of rare genetic disorders that affect the connective tissues in the body, leading to a variety of symptoms and complications. Connective tissues provide support, strength, and elasticity to various structures in the body, including the skin, joints, blood vessels, and organs.
There are several types of EDS, each characterized by different patterns of symptoms and inheritance patterns. However, all types share common features, such as joint hypermobility (overly flexible joints), fragile skin that is prone to easy bruising and slow wound healing, and hyperextensible skin that can be stretched more than normal. People with EDS may also experience joint dislocations, chronic pain, chronic fatigue, and a variety of gastrointestinal, cardiovascular, and neurological symptoms.
EDS is caused by mutations in genes that provide instructions for the production of collagen, a major component of connective tissues. These mutations lead to a deficiency or abnormality in the production or structure of collagen, resulting in the various symptoms and complications associated with EDS.
Diagnosis of EDS is often complex and requires a multidisciplinary approach involving genetic testing, evaluation of clinical symptoms, and assessment of family history. Treatment mainly focuses on managing symptoms and preventing complications. This may include physical therapy to strengthen muscles and stabilize joints, pain management strategies, and close monitoring of cardiovascular and other organ systems.
As EDS is a lifelong condition, individuals with the disorder may require ongoing medical care and support from a team of healthcare professionals to effectively manage their symptoms and maintain their quality of life.
