Ehlers Danlos syndrome (EDS) is a disease that causes interference to the strength and flexibility of tissues in the body, such as skin, joints, blood vessels, and internal organs. This disease is a genetic disorder that is inherited.
The commonly seen EDS is the skin that is very elastic if it is pulled or even becomes brittle, and the joints are too flexible. In addition to skin and joints, other limbs such as eyes, teeth, gastrointestinal tract, blood vessels, until the heart valve can be affected.
The description of the symptoms in each of the Ehlers-Danlos syndrome sufferers is not necessarily the same, depending on the form experienced by the sufferer.
Ehlers Danlos Syndrome Types
There are 13 types of EDS. Hypermobile Ehlers-Danlos syndrome is a frequent type, and vascular Ehlers-Danlos syndrome is the most dangerous form.
- Hypermobile Ehlers-Danlos Syndrome (EDS)
- Classical EDS Ehlers-Danlos Syndrome
- Classic – like EDS
- Vascular EDS
- Kyphoscoliotic EDS
- Cardiac – valvular
- Arthrochalasia EDS
- Dermatosparaxis EDS
- Brittle cornea syndrome
- Spondylodysplastic EDS
- Musculocontractural EDS
- Myopathic EDS
- Periodontal EDS
Each type affects different areas of the body. However, all types have 1 similarity, which is hypermobility, where there is an enormous range of movements in the joints.
Causes of Ehlers Danlos Syndrome
Ehlers Danlos Syndromes (EDS) disease is a hereditary disease. However, in some cases it is not inherited and occurs randomly.
Gene abnormalities cause disruption of collagen production. The genetic disorder that occurs is in the gene to create proteins that work with collagen i.e. ADAMTS2 and genes create collagen such as COL1A1, COL1A2, COL3A1, COL5A1, COL6A2, PLOD1, and TNXB.
Ehlers Danlos Syndrome Symptoms
EDS disorders occur with common signs and symptoms, including:
Joints that are too flexible
Because connective tissues that unite the joints are looser, your joints can move further through the normal range of motion. So joint pain and dislocation often occurs.
Weak connective tissues allow the skin to stretch more than usual. You may be able to pull a pinch of skin, but the skin immediately returns to its place when you release it. Also, your skin may feel very soft and stretchy.
Skin that has been damaged, often does not recover well. For example, the stitches used to cover the wound are usually torn and leave an open scar. These scars may look thin and wrinkled.
The severity of symptoms may vary by person. Some people with Ehlers-Danlos Syndrome have joints that are too flexible, but rarely have symptoms on the skin.
In some cases, the sufferer may only experience one of the above symptoms.
- Chronic muscle pain, attenuating and premature onset of the type of hypermobility
- Severe defects in the aorta in the classic – like type
- Brittle, torn or rupture of arterial blood vessels, ruptures of the uterus or perforation of the intestine in the vascular type
- Scoliosis during birth and eye sclera in the type of kyphoscoliosis
- Long-term risk of dislocation of large joints, poor tonus of muscles in newborns in arthrochalasia type.
- Herniation, prone to rupture in the diaphragm and bladder of dermatosparaxis type
- The risk of the cornea is experiencing rupture, degeneration or protrusion in the type of Brittle cornea syndrome
- Progressive Multisystem complications, developmental disorders and muscular weakness in the musculocontractural type
- Hypotonia in muscles during birth with muscles that do not function properly (myopathy)
- Diseases of the tissues that surround and support the teeth in periodontal EDS type.
Diagnosis of Ehlers Danlos Syndrome
The Ehlers Danlos Syndromes disease can resemble other diseases. The doctor needs a test set to enforce EDS diagnosis. The tests include:
Blood samples were taken for genetic testing. Mutations or damage to genes related to collagen or connective tissues can help enforce EDS diagnoses.
A skin sample biopsy may indicate abnormalities in making collagen.
An echocardiogram is performed to find out the abnormalities of the heart valve.