by Kimberly Allen RN
Ehlers-Danlos syndrome (EDS) is the term used to cover a group of inherited disorders that affects the connective tissue. Approximately 1 out of every 5,000 births worldwide are diagnosed with some form of EDS. EDS affects both boys and girls equally and shows no ethnic or racial discrimination, however there are certain forms of EDS that are more common in some groups than others.
There are many forms of EDS, each with their own set of symptoms and gene of origin, and researchers are still discovering new forms of EDS. Currently there are six major classifications of EDS:
1. Classical, which was formerly known as types 1 and 2, affects about 1 in 20,000 newborns. This type is an autosomal dominant disorder affecting the type V collagen. This type usually presents with varying degrees of skin involvement.
2. Hypermobility or type 3 is the most common affecting approximately 1 in 10,000 people. This type is an autosomal dominant or recessive disorder. Mutations can occur in either of 2 different genes that are also involved in other types of EDS. The most noticeable symptom in this type is the joint hypermobility, the skin is also less involved in this type. Chronic musculoskeletal pain and joint instability are the most noticeable symptoms in this type.
3. Vascular or type 4 is an autosomal dominant disorder that affects about 1 out of every 100,000 people. In this type the synthesis of type III collagen is impaired and it is considered to be one of the more severe types of EDS. People with this type of EDS have fragile blood vessels and organs, they also have certain facial characteristics like large eyes, thin nose and lips, a small chin and sunken cheeks. Most are also petite and they bruise very easily. Most estimates are that 1 out of 4 people with this type will develop some significant health problem by the time they’re 20 years of age and over 80% with this type will develop life threatening complications by the time they’re 40 years of age.
4. Kyphoscoliosis or type 6 is an autosomal recessive disorder, meaning you need to inherit a mutated gene from each parent in order to develop this type. This type is considered very rare and is caused by the deficiency of an enzyme known as lysyl hydroxylase and is characterized by a progressive curving of the spine and severe muscle weakness. Also, the eyes are fragile.
5.Arthrochalasis or types 7a and 7b is another rare form of EDS with approximately 30 known diagnosed cases. In this type the type I collagen is affected manifesting with dislocations in both hips as well as very loose joints in general.
6. Dermatosporaxis or type 7c is also very rare with only approximately 10 known diagnosed cases. The most noticeable symptom in this type is extremely fragile and sagging skin.
It’s important to remember that in medicine things very rarely fall nice and neatly into a specific category, in most cases people also demonstrate symptoms from another type as well which can lead to a misdiagnosis.
As there is no cure for any type of EDS treatment is aimed at managing the symptoms and preventing complications. One of the most important things your Dr will instruct you on is the protection and care of your skin. Any cuts or injuries to the skin must be tended to immediately and carefully to prevent further injury. It is also important to prevent infection. Most Drs recommend over the counter NSAID’s for relief of joint and muscle pain. Also, because people with EDS have more fragile blood vessels your Dr may want you to take medications to keep your blood pressure down to reduce the stress on your blood vessels. Another very important component of treating EDS is physical therapy. The weak connective tissue in the joints increases the risk of dislocation so strengthening the muscles around the joints will help prevent them from dislocating. If a joint is particularly weak the therapist may recommend a brace.
Each person with EDS has their own set of symptoms and health issues requiring individual plans of care, research your specific type to find ways to manage your specific disorder.
Kimberly Allen is a registered nurse with an AND in nursing. She has worked in ACF, LCF and psychiatric facilities, although she spent most of her career as a home health expert. She is now a regular contributor to HealthAndFitnessTalk.com, dispensing advice and knowledge about medical issues and questions. You can reach her with any comments or questions at firstname.lastname@example.org.