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Ehlers-Danlos Syndrome

Updated on May 2, 2016

Importance of Collagen

With more than 30 types of collagen in the body, it's a crucial component that affects almost every cell of the body. When it is defective, it can have devastating consequences. Joints, muscles, tendons, blood vessels and ligaments all rely on this important protein to hold them together and make them strong. Loose joints, fragile skin that bruises or tears easily and blood vessels that rupture are all related to EDS.

Hypermobility Form of Ehlers Danlos

Types of EDS

EDS is a lot like the autism spectrum in the sense that there are several types that are all related. Currently, there are six types that have been identified. This list is changing as doctors learn more about this rarely diagnosed disorder. It is believed that many people have it, but haven't received a proper diagnosis. These types are labeled according to the symptoms. Blood tests can determine which type of EDS a person has, with the exception of the hypermobility type. That is diagnosed by the presentation of symptoms.

The most common type of EDS is the hypermobility type. This type affects both large and small joints in the body, causing them to shift (sublux) or completely dislocate. When a subluxation happens, the person will feel pain but may still be able to use the limb that's affected. Many people with EDS know how to put a joint back in place even when it's a full dislocation. It becomes easier as the tissue surrounding the joint stretches out. Chronic pain is associated with this form of EDS. A person might walk a few steps like normal and then start limping because the hip popped out. Every moment of the day is different for those who are hypermobile. The Beighton Score helps diagnose hypermobility of the joints. A doctor will have the patient try the various tests and score on the ability to do so. A low score does not rule out EDS due to the fact that not everyone with EDS is hypermobile in the joints that are being tested. This test just helps the diagnostic process.

The classical type affects the skin, as well as joint hypermobility. The skin may appear soft and young, but may scar or bruise easily. It often looks paper-thin, allowing the veins to be seen. Bruising is often apparent over pressure points such as elbows and knees.

The vascular type is the most dangerous type of EDS and can be fatal. This often leads to organ or arterial rupture. Translucent skin allows the veins to show over the upper torso. Carrying a pregnancy to term may be difficult and often results in miscarriage due to uterine rupture. Life expectancy is shortened, with death occurring often in the 30s or 40s. However, this depends on the severity of the symptoms.

Kyphoscoliosis results in weak muscle tone and joint hypermobility at birth. Gross motor development is affected and scoliosis progresses as the child grows. This may lead to a loss of mobility in early adulthood. The skin is often extremely fragile, and vision can be impaired due to ruptures in the eye. Arthrochalasia has similar symptoms but also includes congenital dislocations of the hip.The Dermatosparaxis type causes severely fragile skin and scarring. Impaired wound healing can lead to infections that need to be treated. Sagging, doughy skin is common. Hernias are also common.

Rare disorder

Common Symptoms of EDS

While joint hypermobility is common in all forms of EDS, it isn't the only symptom. Many people with EDS have symptoms that affect their daily lives to one degree or another. Some are so mild they don't even realize they have EDS. Others are affected so severely that they spend more time in hospitals than at home.

Mobility is often the most frustrating part of having EDS. Weak muscles and tendons lead to sprains or breaks in childhood and adulthood. As years of injury continue, arthritis often occurs well before most people encounter it. The looser the joints become, the more unstable they are and the more dangerous it is to continue to walk without help. Braces can be used for added support.

Pain is a common factor regardless of the type of EDS. It is said to feel like the day after a car accident, every day. Most people aren't diagnosed until their 30s simply because the pain becomes too much to ignore. It can stop someone from keeping a job or playing with their children. It can make a person feel much older than she really is.

Is it POTS or Dysautonomia?

Common Problems

Many conditions often go with EDS that increase the pain or discomfort felt daily. Dysautonomia affects the autonomic function of the body that controls many functions. It can affect the hear rate and blood pressure, temperature control, the ability to sweat, diabetes and much more. Postural Orthostatic Tachycardia Syndrome (POTS) is a form of dysautonomia that causes fainting when standing due to blood pooling in the lower extremities.

Gastrointestinal issues can cause a number of problems. These can result in co-morbid conditions such as IBS, heartburn, acid reflux, constipation or diarrhea. Gastroparesis causes the muscles in the stomach to be paralyzed. Nausea, vomiting and severe abdominal pain are common with this condition because food is not being properly digested and emptied. Extreme, constant pain and poor nutrition make gastroparesis a debilitating condition.

Other conditions that plague those with EDS range from dental issues such as gum disease and loose teeth to reproductive issues. Due to the fact that EDS affects so many systems in the body, patients are often misdiagnosed with other, more common, illnesses. Misdiagnoses can include fibromyalgia, chronic fatigue, depression, hypochondria and many more.

Summary

Ehlers-Danlos Syndrome affects people differently. Some have minor symptoms while others are debilitated. Some live a long life, while others don't. Treatment is based on the symptoms only since there is no cure.

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