What is Ehlers-Danlos Syndrome?
Ehlers-Danlos Syndrome, otherwise known as EDS, is a collection of heritable connective tissue disorders caused by abnormalities in the structure, production, and processing of collagen in the body. Collagen is a tough, fibrous protein that is responsible for strengthening and providing elasticity to body cells. This syndrome is caused by mutations in more than a dozen genes, leading to a variety of symptoms ranging from loose joints to life-threatening complications. Generally, Ehlers-Danlos Syndrome occurs in about 1 in 5,000 people worldwide, with the most common symptom being hypermobility, or a larger range of joint movement.
What are the signs and symptoms of Ehlers-Danlos Syndrome?
Some of the symptoms associated with EDS include the following:
- In the joints, EDS causes hypermobility, loose and unstable joints, joints prone to dislocations or subluxations, joint pain, and early onset osteoarthritis.
- The symptoms associated with skin include soft skin, hyper extensible skin, fragile skin, easily bruised skin, severe scarring, and poor wound healing.
- Less common symptoms include chronic musculoskeletal pain, arterial or intestine fragility, and poor muscle tone.
- Infants can experience hypermobility causing delayed motor skills development and difficulty with sitting, standing and walking.
- Life threatening symptoms include life-threatening complications due to increase risk of tearing of blood vessels, organ rupture, or womb rupture.
What are the types of Ehlers-Danlos Syndrome?
There are six different types of Ehlers-Danlos Syndrome that are determined by the signs and symptoms, genetic causes and patterns of inheritance. The six types are as follows:
- Hypermobility: As the least severe form of EDS, this autosomal inherited type of EDS is characterized by hypermobility in large and small joints and easily bruised skin.
- Classic: The symptoms for this type of autosomal dominant inherited EDS include skin hyper extensibility, abnormal wound healing and joint hypermobility.
- Vascular: Patients diagnosed with this autosomal dominant inherited EDS typically experience thin, translucent, easily bruised skin, characteristic facial appearance, and fragile arteries, muscles and internal organs.
- Kyphoscoliosis: This type of EDS is characterized by fragile, easily bruised, hyper extensible skin, fragility of the sclera, and progressive kyphoscoliosis, or curving of the spine in two planes. In infants, this autosomal recessive inherited type can cause severe hypotonia, otherwise known as floppy baby syndrome due to low muscle tone.
- Arthrochalasia: This autosomal dominant inherited type of EDS causes joint hypermobility, congenital hip dislocations, hyper extensible skin, hypotonia and kyphoscoliosis.
- Dermatosparaxis: The last type of autosomal recessive inherited EDS causes hernias, extremely fragile, saggy, facial skin and mild to severe joint hypermobility.
What are the treatments?
The main treatments for Ehlers-Danlos Syndrome focus on managing the more severe complications of the disease. This usually requires combined treatment from specialists, pediatricians, orthopedists, dermatologist and rheumatologists. Genetic counseling can also be completed for individuals and family members affected by EDS. RSVP Homecare offers durable medical equipment in Cincinnati, Ohio for the treatment of Ehlers-Danlos Syndrome. Our team of respiratory therapists can work with your team of specialists to determine the best treatment plan for you. Call us today to see how we can help you treat Ehlers-Danlos Syndrome.