Last Updated on April 18, 2023 by Flavia Calina

Ehlers-Danlos Syndrome is a genetic connective tissue disorder that affects collagen formation and function. It can have a wide range of symptoms and complications.

Patients with this disease can experience joint subluxations, dislocations, fragile skin, organ dysfunction, and widespread pain. These symptoms often persist despite medical intervention.

Diagnosis

Ehlers danlos syndrome (EDS) is a group of rare genetic disorders that affect connective tissues — the proteins that add strength and flexibility to your skin, muscles, skeleton and blood vessels. These proteins are called collagen and help your body to stretch and bend.

Doctors diagnose EDS based on a patient’s symptoms and medical history. They may also do a physical examination and genetic testing to look for specific genes that are mutated (defective).

Most people with EDS have a genetic defect that causes weak or defective collagen. This makes their connective tissue more vulnerable or less elastic, making joints, skeleton and blood vessels sag and more fragile.

The most common form of EDS is hypermobility type or hEDS. This recessive disorder can be passed down from parent to child.

This condition is characterized by loose, hypermobile joints, soft and delicate skin, easy bruising, and abnormal scarring. It is more common in boys than girls and can be found in people from all racial backgrounds.

Some forms of EDS are vascular, which can cause unpredictable tearing of your blood vessels and organs, leading to easy bruising, internal bleeding, or a hole in your intestines (intestinal perforation). This can be especially dangerous during pregnancy.

Treatment for EDS focuses on reducing joint dislocations and pain by strengthening the muscles, stabilizing the joints and keeping blood pressure low. Your physical therapist can provide exercises that strengthen and stretch your joints, and braces can be used to prevent dislocations. Your doctor may also recommend surgery to repair ruptured areas of your joints, blood vessels or organs.

Symptoms

People with Ehlers-Danlos Syndrome have symptoms that affect the connective tissues of their skin, joints and blood vessels. The disorder can be genetic, which means it is passed down through family members.

Symptoms can range from loose, flexible joints to extremely fragile skin that tears easily. They also can include weakening the walls of your blood vessels, which can lead to internal bleeding and stroke.

Some people with Ehlers-Danlos Syndrome have vascular Ehlers-Danlos syndrome (vascular EDS). This is more severe than the other types of EDS and can cause blood vessels to tear, leading to dangerous internal bleeding or early death.

Vascular EDS is caused by a fault in how collagen binds to connective tissue’s cell membranes. Scientists believe this is due to a mutation in one gene.

These mutations may result in an error that creates the wrong amount of collagen, or they may fail to produce enough of it. The problem with this is that abnormal collagen is then incorporated into the helix, where three proteins come together, and this causes problems.

These complications can be severe, so it is essential to have your condition diagnosed by a doctor who knows about the disease. They will check your health history and make a proper diagnosis.

Treatment

There are several treatment options for Ehlers-Danlos Syndrome. Your doctor will help you decide what is best for you.

Your doctor will also consider the severity of your condition. Some types of Ehlers-Danlos Syndrome are severe and can cause dangerous complications, such as ruptured blood vessels or aortas.

Some people have a genetic mutation that causes weak collagen (proteins that add flexibility and strength to connective tissue). These defects can harm the connective tissues’ ability to support muscles, organs and other tissues.

These genes can either be dominant or recessive. They have a wide range of effects on how proteins bind together and are responsible for the different forms of Ehlers-Danlos Syndrome.

The most common type of EDS is hypermobility Ehlers-Danlos Syndrome, which occurs in about one out of every 5,000 babies born worldwide. Children with this form of EDS often have loose joints and are prone to dislocations.

Another type of EDS is vascular Ehlers-Danlos Syndrome, which can make the body’s blood vessels more fragile. This condition can cause the arteries in the arms or legs to collapse, increasing your risk of heart attack or stroke.

There are a variety of treatments that can reduce pain, improve mobility and strengthen the connective tissues of the body. These include physical therapy and medicines to reduce swelling. Your doctor may also recommend surgery to repair joint damage or fix ruptured areas in blood vessels and organs.

Follow-Up

It would help if you regularly visited your doctor to check on your condition. Your doctor will check your skin and joints for problems such as swelling or tearing. They will also help you with pain management if needed.

For children, a visit with your child’s doctor can include testing for bleeding and other blood-related problems. They can help you manage your child’s pain and get them involved in recreational or special activities.

In addition, they can advise how to keep your child safe while at school and on the playground. They can help you understand your child’s legal rights regarding special education services and disability benefits.

Your doctor can also give you information about the different types of EDS and what they mean for your child. Some can be life-threatening, and others are mild but affect how your child moves.

You should know that EDS can majorly impact your child’s life and ability to function. They may need to be more careful with their diet and exercise routine. They may also need to wear a wide-brimmed hat outside during peak sunlight hours and take extra precautions when using sunscreen.

Classic Ehlers-Danlos syndrome (SIDS) is caused by mutations in COL5A1 signal peptides that interfere with protein secretion. The mutated gene is inherited in an autosomal dominant fashion.

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