Ehlers-Danlos Syndrome Definition, Reason, Symptoms, Treatment & Prevention
Definition
Ehlers-Danlos syndrome or Ehlers-Danlos Syndrome (EDS) is a rare but inherited connective tissue disease. Connective tissue is tissue that is found throughout the body and supports the skin, tendons, ligaments, blood vessels, internal organs and bones. Connective tissue is made up of cells made of fibers and a protein called collagen. EDS sufferers will have abnormalities in producing collagen.
There are 13 types of EDS. Each type of EDS attacks a different part of the body. The most frequent types are classic and hypermobile. Other types that are relatively rare are vascular and kyphoscoliotic. However, all types of EDS give symptoms of hypermobility, namely joint movements that have a wide range.
The type of mutated or defective gene causes a difference from the type of EDS. The gene can be inherited by one or both of the sufferer’s parents. However, it is possible that the gene abnormality occurs for the first time in sufferers and is not inherited.
Symptoms of sufferers of EDS are usually not dangerous. However, in some cases it can cause disability. Even in severe but rare types can cause death.
Complications of EDS include chronic joint pain, joint dislocations, arthritis or early joint inflammation, slow wound healing, and poor scarring.
Ehlers-Danlos Syndrome Symptoms
Symptoms of Ehlers Danlos Syndromes vary, depending on which part of the body’s connective tissue is affected. Symptoms of the classic type of EDS include:
- joint hypermobility
- loose and unstable joints that are easy to dislocate
- stretchy skin
- fragile skin that splits easily, especially on the forehead, knees, shins and elbows
- smooth yet velvety skin that bruises easily
- excess skin folds on the eyes
- wounds that are difficult to heal and cause wide scars or scars
- muscle pain or muscle fatigue
- heart valve disorders
- hernia or organ prolapse
Symptoms of hypermobility EDS include:
- joint hypermobility
- loose and unstable joints that are easy to dislocate
- aching muscles and joints that click
- extreme fatigue
- skin that bruises easily
- digestive tract disorders such as heartburn and constipation
- headache and increased heart rate when standing
- internal organ problems such as heart valve disorders or organ prolapse
- bladder disorders
Symptoms of the vascular type of EDS include:
- skin that bruises easily
- thin skin with visible small blood vessels, especially on the upper chest and legs
- blood vessels that are fragile and easily bulge or tear, causing serious internal bleeding
- internal organ problems such as tearing of the intestines and uterus and collapse of the lungs
- hypermobility of fingers and toes
- facial abnormalities such as a thin nose and lips, large eyes and small ears
- varicose veins
- delayed wound healing
Symptoms of the kyphoscoliotic type of EDS include:
- curvature of the spine and gets worse when you are in your teens
- joint hypermobility
- loose and unstable joints that are easy to dislocate
- Weak muscle tone since childhood causing developmental delays such as sitting and walking
- fragile and easily damaged
- smooth yet velvety skin that bruises easily
- stretchy skin
- wounds that are difficult to heal and cause wide scars or scars
Ehlers-Danlos Syndrome Reason
Ehlers-Danlos syndrome (EDS) is a hereditary disease. However, in a few cases it is not inherited and occurs randomly.
Gene abnormalities cause disruption of collagen production. Gene abnormalities that occur are in the genes for making proteins that work with collagen, namely ADAMTS2, and genes for making collagen, namely COL1A1, COL1A2, COL3A1, COL5A1, COL6A2, PLOD1, and TNXB.
Diagnosis
Ehlers Danlos Syndromes can mimic other diseases. Doctors need a series of tests to make a diagnosis of EDS. Examinations carried out include:
-
genetic test
Blood samples are taken for genetic testing. Mutations or damage to genes related to collagen or connective tissue can help establish the diagnosis of EDS.
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skin biopsy
A skin sample biopsy can show abnormalities in the production of collagen.
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echocardiogram
An echocardiogram is done to find out if there is an abnormality of the heart valves.
Ehlers-Danlos Syndrome Treatment
There is no way to cure Ehlers-Danlos syndrome. Treatment is carried out aims to reduce complaints of symptoms and slow the progression of the disease.
Treatment that can be done includes:
- Medicines to reduce pain
- Physical therapy to improve muscle and joint function
- Surgery to repair damaged joints
Prevention
There is no way to prevent Ehlers Danlos Syndromes from occurring. However, there are several ways you can do to prevent injury, such as:
- avoid doing contact sports
- avoid lifting weights
- use sunscreen as skin protection
- Avoid using soap which can cause dry skin or allergies
- using assistive devices or joint supports