Ehlers Danlos Syndrome – Complications and Treatment Options

Ehlers Danlos Syndrome is a disorder that deals with the connective tissue. It is inherited and cannot be passed on any other way. Ehlers is also known as Cutis Hyperlastica. This disorder essentially causes a severe defect in the product of collagen. Collagen is responsible for providing your muscles and skin with elasticity and firmness. When collagen degenerates or stops being produced properly, the body starts to resemble a limp “sack.” The collagen deficiency can lead to muscle and joint problems, as well as other skin mutations. Ehlers Syndrome is a condition that is either “mild” or life threatening. Currently there isn’t a cure, and not enough funding to search for one.

Surprisingly EDS isn’t too uncommon, about 1 in every 5,000 children born will have EDS. The odds of inheriting a more severe type of EDS are much slimmer.

Symptoms of Ehler’s Danlos Syndrome

The symptoms that one experiences with EDS are mostly due to the lack of collagen or issues with collagen production. Therefore, not everyone will experience the same symptoms. Others have worse symptoms, and some individuals are lucky enough to only have mild harmless symptoms.

For patients with EDS, their fingers and toes are likely to be extremely flexible. This isn’t necessarily a bad thing however, and can actually prove to be beneficial. However, this is often paired with loose joints that are prone to breaking or sprains, making it difficult for the individual to live a normal life. Most children with EDS must be extremely careful and must avoid falling or hurting themselves. This can lead to a very sheltered life. These symptoms are amongst the mildest of symptoms.

Dental crowding is a condition commonly noticed in those with EDS. Children are most likely to experience this problem, because their teeth will be very crowded and crooked due to very narrow jaws and palates.

Being easily bruised is often an unfortunate symptom as well, and is caused by narrow blood vessels. Even a small poke can cause a person with EDS to form a tender bruise. Blood vessels are likely to be extremely delicate, and require constant monitoring to ensure that the individual doesn’t rupture a vein or develop an aneurysm. Sadly children that have EDS are often not properly diagnosed at a young age. Therefore their parents are typically accused of child abuse, especially if the child has frequent bruises and scarring on the body due to minor injuries.

Patients diagnosed with this disorder also have extremely soft, spongy skin. Their muscles are weak and undefined, and their skin may be easily pulled and “putty” like. Wounds may be difficult to heal, which will result in deep and obvious scarring.

Cardiovascular problems as well as early onset osteoarthritis are both common problems associated with this disorder.

Severe Symptoms Associated with EDS

The severe symptoms of EDS are not as commonly noted, and are rarer to the disorder than other symptoms. These symptoms are usually treated with a considerable amount of very specific medication. In some cases patients may be asked to undergo trial experiments to treat their pain and symptoms.

Brittle bones are a severe problem with EDS, caused by low bone density. These people are likely to suffer broken bones that have a difficult time healing, as well as joint pain. Other bone conditions include spine deformities, such as Kyphosis and Scoliosis. Other spinal mutations are much more severe, but also rare.

Bowel conditions are also problematic for those suffering from EDS. Patients are most commonly afflicted with Irritable Bowel Syndrome as well as Gastritis.

Other symptoms and disorders that arise from having EDS include Carpal tunnel and other nerve problems, skin conditions, bone and blood disorders, as well as difficulty conceiving and giving a live birth.

Types of Ehler’s Danlos Syndrome

There are six specific types of EDS that stand out to scientists and medical professionals. These classifications are grouped according to a few different rules. Patients are diagnosed with one type through genetic testing and other rigorous types of tests that are performed.

Classical EDS is one type that is grouped into two parts. Part 1 consists of severe skin conditions and type 2 is only moderate.
Hypermobility is type three of EDS and is unique because the individuals diagnosed with this are extremely flexible. They are able to bend in extreme ways and contort themselves easily. It effects 1 in every 10,000, and isn’t particularly rare.

Type four is a vascular condition and considered to be very severe for those diagnosed with it. Type Four EDS is often life threatening and can be very painful for the individual. These people are at great risk for premature death, and many develop complications before they turn 20. Others may die within 20 years. The grim facts include severe bodily and facial mutations, which often make these people have socially reclusive lifestyles.

Kyphoscoliosis is a type of EDS that is very rare, with less than 60 people around the world being diagnosed with it. This condition is hard to treat and severe deformities are noted.

Arthrochalasis and Dermatosparaxis are the last two classifications that are extremely rare. Out of these two conditions less than 40 people in the world are diagnosed with it. They are considered quite extreme and have very severe deformities associated with the classifications.

Diagnosis and Prognosis of EDS

Careful DNA studies and skin biopsies are key to diagnosing EDS in patients. Sadly, children are rarely diagnosed early enough for proper treatment to be administered. Adults may be diagnosed after it is too late. EDS is always an inherited condition, thus making accurate diagnosis difficult.

Prognosis is heavily dependant on the type or classification of EDS that the patient has. Severe cases can be fatal but for the most part these individuals live a normal average life. Injuries early on in the disease can reduce their lifespan, and blood vessel conditions may reduce it as well.

Treatment for EDS

Treatment isn’t widely available. For most patients treatment is limited to medications that control the symptoms listed above. For example, a patient that has symptoms of arthritis or joint pain may take anti-inflammatory medications. This still tricky however, because many medications can trigger other side effects that may be fatal. Treatment is usually very precise and done slowly over the course of years.

The best type of treatment is monitoring. The patient should be monitored at all times to prevent dangerous aneurisms and cardiac trouble. When a doctor is able to keep close tabs on a patient they are able to research the disease more thoroughly as well as prevent any major problems from occurring.

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