We all have connective tissue – it is what holds our bodies together. It is found in our heart, joints, skin and many other parts of our body. While our connective tissue is usually tight, sometimes it is too stretchy. In some cases, a connective tissue disorder is the cause.
We all have connective tissue – it is what holds our bodies together.
Connective tissue disorders of many types can cause somewhat different symptoms and involve different body parts. A connective tissue disorder is caused by a genetic defect – an issue with your genes. Your doctor can diagnose you with a connective tissue disorder at any age, and children can also have symptoms related to them.
“Connective tissue disorder is a genetic defect where the actual connective tissue is stretchy or defective,” said Dr. Julie Dietz, pediatric cardiologist with Marshfield Children’s.
Connective tissue disorders typically cause multiple symptoms including:
- Joint problems.
- Stretchy skin.
- Gastrointestinal symptoms.
- Heart conditions.
- Eye conditions.
While these symptoms are not all life threatening, some connective tissue disorders are more likely to be life-threatening than others. If your family has a history of connective tissue disorders, Dietz recommends telling your doctor. If your doctor finds a disorder early, the risk can be minimized.
One life-threatening symptom
One of the more severe issues with a connective tissue disorder is aortic dissection. This is where the aorta stretches and eventually tears.
Since your aorta is the largest artery in your body and is an important part of your heart, this can be a serious issue.
Common symptoms of aortic dissection include:
- Chest pain usually from the front of the chest to the back.
- Generally not feeling well.
- Light headed.
- Sweaty.
While most connective tissue disorders can cause an aortic dissection, some are more likely to cause it than others. If your family has a history of connective tissue disorders, Dietz recommends telling your doctor.
Finding someone with a disorder
While many things are known about connective tissue disorders, there is still a lot to learn. The first barrier is finding those with a disorder.
“About 10 percent of the population are somewhat stretchy, and the hard part is finding the people that have an important connective tissue disorder,” Dietz said.
Your doctor should first complete a good history and physical exam. Genetic testing can then be used to find the specific disorder once your doctor suspects you have a connective tissue disorder.
If you have any questions about connective tissue disorders, talk to your doctor.
Thank you so much Dr. Dietz for bringing awareness to connective tissue disorders and helping others to understand that this can mean problems with multiple body systems. EDS Wisconsin is a nonprofit organization that is dedicated to providing support and resources to patients and medical professionals about Ehlers Danlos syndromes and related conditions in Wisconsin. Please reach out to us if we can be of a assistance.
We have EDS-type 4 (terminal) in our family. My sister died at 49 on the operating table as Dr's were not aware of this. She died at the Marshfield hospital, Kathryn Genette. After that her siblings were genetic testing and two of us are fine but my brother and his two children have that. Since then my brother died from the disease. It was discovered (assumed) the my grandmother and her father both had it as they bled to death after surgery. My mother had many symptoms and was considered a carrier. My brother died at 62, as they took precautions as average mortality is 50. Hopefully, discoveries will happen to prevent early deaths of my niece and nephew. The disease caused my mother to go blind, damage to her optic nerve and other issues relative to this syndrome.