Ehlers . Danlos . Syndrome
Definition
Ehlers Danlos Syndrome is a genetic disorder that causes faulty collagen productions in your connective tissues. It is because of the faulty collagen that people with EDS display fragile skin and unstable joints.
(Since this condition is genetic, you must have a family member that displays similar characteristics.)
The connective tissues provide support to many body parts such as your skin, muscles and ligaments. Collagen is a protein which acts as a "glue" in the body, adding strength and elasticity to connective tissue. When the glue begins to wear, symptoms worsen, and your main body parts can be effected.
Types
There are three main types of Ehlers-Danlos Syndrome
(with a total of 10 possible types)
Type I and II: Classical Type
People with the Classical form of EDS has stretchy skin, with easy bruising, and poor wound healing.
All of there other symptoms are that of the hyper-mobility type
(However; these people are not as flexible as those who solely fall into the hyper-mobility type)
Type I is the more severe skin involvement and Type II is moderate skin involvement
All of there other symptoms are that of the hyper-mobility type
(However; these people are not as flexible as those who solely fall into the hyper-mobility type)
Type I is the more severe skin involvement and Type II is moderate skin involvement
Usually affects 1-15,000/20,000 people
Type III: Hyper-mobility Type
People with the Hyper-mobility form of EDS are very flexible.
They are able to bend in extreme ways and contort themselves easily.
Usually affects 1-10,000/15,000 people
They are able to bend in extreme ways and contort themselves easily.
Usually affects 1-10,000/15,000 people
Type IV: Vascular Type
**the most severe form**
People with the Vascular form of EDS have the most severe form of this condition. This type is life threatening and can be very painful for the individual, who have a mean life expectancy of reaching the age of 40. Facial characteristics are usually present, as well as very thin, translucent skin with strong venous prominence in the chest and abdomen.
Aortic ruptures and aneurysms usually are the cause of ones fast, unexpected death.
Usually affects 1-250,000 people
Aortic ruptures and aneurysms usually are the cause of ones fast, unexpected death.
Usually affects 1-250,000 people
Symptoms
It is important to note that because of all the various types and degrees of EDS, not everyone will experience the same symptom. Some people may experience very mild symptoms with no interference on their daily lives, while others can display very severe, disabling symptoms that interfere with their daily life.
The following are some common symptoms that people may have
- Subluxations
- Dislocations
- Very flexible joints/double jointed
- Loose Joints
- Thin Skin
- Translucent Skin
- Soft/Velvety Skin
- Scarring
- Pain
- Aches
- Muscle Weakness
- Excessive Sprains/Breaks
- Dental Crowding
- Problems with Dental Work/Numbing Medicine
- Easy Bruising
- Cardiovascular Problems
- Osteoarthritis
- Brittle Bones
On top of the symptoms, EDS can cause some other problems or syndromes
- POTS
- Dysautonomia
- Aortic Ruptures
- Blood Vessel Ruptures
- Aneurysm
- IBS
- Gastritis
- Nerve Problems
- Carpal Tunnel
- Skin Conditions
- Bone/Blood Disorders
- Difficulty Conceiving/Giving Birth - high risk pregnancy
Diagnosis
- A simple blood test can check for only the vascular form of this condition. It checks for a mutation in the COLA31 collagen gene.
- A skin biopsy, clinical evaluation, family history, and Beighton Scale can check for the classical form of EDS.
- Pure clinical evaluation and family history is used to diagnose the hyper-mobility type. Geneticists use a Beighton Scale to measure the level of flexibility and score the patient. If a patient has a 5-6 points, they have possible EDS; if the patient has 7-9 points, they more than likely have EDS. However, it is important to note that just "being flexible" does not mean you have EDS.
