Ehlers-Danlos syndrome (EDS) is a group of rare genetic connective tissue disorders that affect the body’s collagen, which is a key component of the connective tissues supporting the skin, bones, blood vessels, and organs. EDS results in a range of symptoms and can vary in severity from person to person.
Key points:
Symptoms: Common symptoms may include joint hypermobility, joint dislocations, chronic pain, skin problems (such as hyperelasticity, easy bruising, and poor wound healing), and various complications related to connective tissue weaknesses. Some forms of EDS, especially the vascular type, can be life-threatening due to the risk of organ and blood vessel ruptures.
Diagnosis: EDS is typically diagnosed through a physical examination, medical history, and genetic testing.
Treatment: Focus on relieving symptoms and preventing complications. This often involves a multidisciplinary approach, including physical therapy to strengthen muscles and stabilize joints, pain management, and, in some cases, surgery to repair damaged joints.
Lifestyle: Living with EDS may require careful management of daily activities, such as avoiding activities that strain the joints and learning how to protect the skin and joints.
Ehlers-Danlos syndrome (EDS) has various types, characterized by the EDS effects.
The most common types:
Hypermobility Type (hEDS): This type is characterized by joint hypermobility (unusually flexible joints), joint instability, and chronic joint pain. Skin involvement, such as hyperextensibility and easy bruising, may also occur.
Classical Type (cEDS): Classical EDS is characterized by skin hyperextensibility, joint hypermobility, and a tendency to develop atrophic scars (thin scars that depress below the surrounding skin).
Vascular Type (vEDS): Vascular EDS is the most severe form, affecting blood vessels and organs. It can lead to arterial or organ rupture, potentially life-threatening complications. People with vEDS often have thin, translucent skin that bruises easily.
Kyphoscoliotic Type (kEDS): This type involves severe muscle weakness, curvature of the spine (kyphoscoliosis), and joint hypermobility.
Arthrochalasia Type (aEDS): Arthrochalasia EDS is characterized by severe joint hypermobility, congenital hip dislocation, and a tendency to develop hyperelastic skin.
Dermatosparaxis Type (dEDS): This is a rare type of EDS characterized by extremely fragile skin that is easily bruised and hyperelastic.