What is the pathophysiology of ehlers danlos syndrome?
Ehlers-Danlos syndromes (EDS) are a group of genetic disorders that affect the connective tissue throughout the body. Connective tissue is the material that holds the body together and provides support for its structures. It is found in the skin, bones, muscles, ligaments, tendons, and blood vessels.
In EDS, the connective tissue is weak and stretchy, which can lead to a variety of symptoms, including:
* Joint hypermobility: The joints can move beyond their normal range of motion.
* Skin hyperextensibility: The skin can stretch easily and may appear loose or wrinkled.
* Tissue fragility: The connective tissue may tear or break easily, leading to bruising, dislocations, and hernias.
* Easy bleeding: The blood vessels may be fragile and bleed easily.
* Organ prolapse: The organs may sag or fall out of place because the connective tissue that supports them is weak.
The exact pathophysiology of EDS is not fully understood, but it is believed to be caused by mutations in genes that encode for proteins that are involved in the synthesis and structure of collagen. Collagen is a major component of connective tissue, and mutations in these genes can lead to the production of abnormal collagen that is weak and stretchy.
There are several different types of EDS, each with its own unique set of symptoms and genetic mutations. Some of the most common types include:
* Classical EDS: This is the most common type of EDS and is characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.
* Vascular EDS: This type of EDS is characterized by weakened blood vessel walls, which can lead to easy bleeding, aneurysms, and dissections.
* Kyphoscoliotic EDS: This type of EDS is characterized by severe curvature of the spine (kyphoscoliosis) and joint hypermobility.
* Arthrochalasia EDS: This type of EDS is characterized by severe joint hypermobility and dislocations.
EDS is a lifelong condition, but there are treatments that can help to manage the symptoms. Treatment may include physical therapy, occupational therapy, medication, and surgery.