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What You Should Know About Ehlers-Danlos Syndrome

By Edited Mar 19, 2016 1 0

An uncommon medical condition Ehlers-Danlos Syndrome, is experienced at most by 1 in upwards of 10,000 people. Individuals that suffer from this genetic connective tissue disorder may not experience symptoms worthy of the diagnosis. Those that are diagnosed with Ehlers-Danlos Syndrome can not be cured from the disorder, rather some of the symptoms are manageable.  

hypermobile joints

Ehlers-Danlos Syndrome:

Ehlers-Danlos Syndrome is a connective tissue disorder that is handed down genetically and is a result of inefficient collagen. At one time there were ten recognized classifications of the syndrome, but the list was narrowed down to six different types as of 1997. These classifications include:

  • Classic- those that suffer from this classification have mild to severe skin issues that result in wounds being slow to heal or excessively stretchy. The individual may also experience some of the symptoms related to the hypermobility classification.
  • Hypermobility- for a person who deals with hypermobility, connective tissues and joints are highly affected. This can result in the person having joints that are prone to subluxing or complete dislocation. Also, there can be pain in the joints that is similar to the pain of arthritis.
  • Arthrochalasia- this rare form of Ehlers-Danlos has only been diagnosed in a handful of cases. An individual would have such loose joints that dislocate easily and would cause walking to be impossible.
  • Vascular- this form of the disorder is considered to be rather severe as it attacks the blood vessels and can cause ruptures in arteries. A person suffering from this may exhibit abnormal facial features.
  • Dermatosparaxis- the rarest form of Ehlers-Danlos, which can cause extremely sagging skin.
  • Kyphoscoliosis- as one of the less diagnosed classifications, this form will cause severe curvature of the spine and poor tissue connection to the eyes.  

Diagnosis:

Individuals with Ehlers-Danlos Syndrome may never receive a diagnosis of the disorder. If the person exhibit noticeable symptoms that a doctor picks up on, they will be sent to a geneticist for evaluation. There are no conclusive blood tests or other biological tests to determine the diagnosis of the disorder. A geneticist will perform a physical exam of the patient and look for signs of the syndrome. There are ten mobility points the doctor will check along with skin conditions and the evaluation of abnormal facial features. The healthcare professional will make an educated guess based off of the physical exam and other outside factors, such as: poorly healed scars, joint pain, dislocations and subluxations.  

Precautions:

Regardless of the classification of Ehlers-Danlos a person is diagnosed with, there are a series of precautionary tests will be ordered. The individual will be sent for an EKG to develop a baseline for heart valve function. This test will allow doctors to know more definitively if the individuals valves are weakening. The individual will also be sent to an opthamologist for eye dilation to see if the connective tissues in the back of the eye are weak, which can lead to vision problems.

Treatments:

There are no treatments for individuals who have Ehlers-Danlos Syndrome. At most, there are things that can be done to alleviate symptoms experienced by the person. For those that have frequent dislocations, invasive surgeries can be performed to tighten stretched tendons to keep joints in socket. Joint pain can be managed with physical therapy options and medications. With proper management most individuals that are diagnosed with the disorder can keep their symptoms to a livable minimum.

Ehlers-Danlos Syndrome is not a medical condition experienced by many people in the population. Those that do have the disorder can manage the symptoms for the most part. There have been some reported cases of death due to blood vessel ruptures or heart valve ruptures. However, these cases are rare at best and most individuals lead normal lives.  

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