Essential Things You Need to Know About Dermatosparaxis Ehlers-Danlos Syndrome (dEDS)

Dermtospraxis Ehlers-Danlos syndrome (dEDS) is a connective tissue disorder that is quite rare. Only about a thousand Americans have this particular disorder. It is characterized by soft, saggy, and fragile skin and slow-healing wounds. This syndrome also affects the joints, causing them to have a range of motion that is far greater than average but also prone to dislocation. This blog will cover everything you need to know about dEDS. Here are this disorder’s causes, symptoms, diagnosis, and treatment options.

Causes of dEDS

dEDS Is caused by a mutation in the ADAMTS2 gene, which is necessary for creating collagen in the body. Collagen is a protein that contributes to the elasticity and strength of skin, tendons, and other tissues. This mutation leads to a deficiency of type I collagen, which results in the skin and joints being hypermobile and excessively elastic. Some risk factors can lead to the disorder. Here are some of them:

Family history

One of the significant risk factors for dEDS is a family history of this condition. dEDs is an autosomal recessive genetic disease, meaning both parents must carry a copy of the genetic mutation for their child to inherit the condition. The diagnosis of dEDS is more likely inn individuals with a family history of Ehlers-Danos syndrome.

Early onset of symptoms

The age of onset of symptoms is an essential risk factor for dEDS. dEDS symptoms typically manifest at birth or shortly thereafter, so if you notice that your child has loose skin, hypermobility, or is prone to bruising, you should consult a geneticist to diagnose and manage the condition early.

Collagen abnormalities

As mentioned earlier, dEDS is caused by a genetic mutation that affects the body’s collagen production and quality. Therefore,  collagen abnormalities resulting in excessively fragile skin and weakened joints put you at risk of developing dEDS. 

Pregnancy

Women with a history of dEDS are more susceptible to complications during pregnancy, such as premature rupture of membranes, preterm labor, and miscarriage. women with dEDS must plan their pregnancy with a high-risk obstetrician and retreat receive proper medical care during their pregnancy.

Poor connective tissue health

Individuals with dEDS are prone to injuries, bruises, and skin tears due to the weakening of connective tissues. They may also experience chronic pain and discomfort due to increased joint mobility. Managing these symptoms and ensuring proper care of connective tissues is essential in reducing the impact of dEDS on an individual’s quality of life.

Symptoms

The symptoms of dEDS can vary widely from person to person. Some people may only experience exceedingly soft and saggy skin, while others may have joint dislocations and slow wound healing. Other common symptoms include poor healing of surgical wounds, easy bruising, hernias, and aortic aneurysms.

Diagnosis

Several tests can be used to diagnose dEDS, including genetic testing to analyze the mutations in the ADAMST2 gene. Doctors may also examine the skin and joints and conduct imaging tests of the joints to check for any dislocations or abnormalities.

Treatment

Although there is no cure for dEDS, several treatment options can alleviate its symptoms. Here are some of them:

Fat reduction treatments

Certain fat reduction treatments can deal with the loose, saggy skin caused by dEDS. One of the best options is a Tripollar treatment. This treatment utilizes radio frequency energy to reduce the excess fat in the skin and promote the elasticity of collagen fibers. It’s a non-invasive therapy that can effectively deal with the disorder’s symptoms.

Physical therapy

Therapy can help strengthen the joints affected by dEDS.  Exercises that help with mobility and strengthening are recommended for people with this condition. A physical therapist will create an exercise program tailored to your needs to improve joint stability and reduce the risk of dislocations.

Medications

Dr prescribed medications can be used to manage pain associated with dEDS.  pain relievers such as ibuprofen, naproxen, and acetaminophen are commonly prescribed for this purpose. Your doctor may also recommend other medications for muscle spasms or instability.

Surgery

Sometimes, a doctor may recommend surgery to repair hernias, treaty aortic aneurysms, or correct joints prone to dislocation. Surgery can be an effective way of treating dEDS and relieving the symptoms associated with it. 

Dealing with dEDS can be difficult, but with proper medical care and lifestyle modifications, you can manage the symptoms of this rare genetic disorder. Understanding the causes, symptoms, diagnosis, and treatment options is essential for living a whole and healthy life despite this condition. With the right support system in place, you can ensure that your dEDS is managed to safely and effectively.

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