Connective Tissue Disorders

Recognizing and Treating Structural Defects

Our bodies are held together by structures called connective tissue. Connective tissues make up the ligaments and tendons that help your joints move. They also provide structure and flexibility for body parts, such as your skin and blood vessels.

Damage to your connective tissue can cause serious health issues. Normal wear and tear from aging can start to erode connective tissues. So can certain Conditions in which the body’s disease fighting system mistakenly attacks and destroys the body’s own cells. autoimmune diseases, like lupus, and specific connective tissue disorders. The effects of these conditions can range from mild to severe.

Researchers are looking for better ways to diagnose and treat conditions that lead to connective tissue damage. Getting treatment may help improve a person’s quality of life. But connective tissue disorders can be hard to recognize.

Connecting the Dots

Connective tissue disorders aren’t common. Several can be passed down genetically. Those tend to run in families. Each disorder affects different body parts.

One condition, known as Marfan syndrome, can lead to balloon-like bulges called aneurysms in blood vessels. These bulges are especially dangerous when they occur in the body’s largest blood vessel, the aorta, which carries blood to the heart. If it bursts, it can cause sudden death.

Another disorder, called hyper-mobile Ehlers-Danlos Syndrome (or hEDS), can cause pain in the joints and other parts of the body. The condition epidermolysis bullosa (EB) weakens the skin. And the disorder osteogenesis imperfecta can make bones prone to breaking.

Although the symptoms and affected body parts are different, these conditions all stem from damaged connective tissues. The severity of symptoms for these disorders varies widely among patients. They can range from hardly noticeable to life-threatening (see Wise Choices box).

“Milder forms of these conditions are probably under-recognized and underdiagnosed,” says Dr. Anna Bruckner, a skin expert at the University of Colorado.

The symptoms caused by connective tissue disorders can also often arise from many other health conditions. “And symptoms like chronic pain and chronic fatigue are often missed, or dismissed,” explains Dr. Cortney Gensemer, a genetics researcher at the Medical University of South Carolina (MUSC), who has hEDS herself.

Tell your doctor if you have a family history of a connective tissue disorder or if you have a relative who died suddenly at a young age. That information can help with a diagnosis, explains Dr. Jason Cook, a vascular surgeon at the University of Nebraska Medical Center.

Finding the Cause

Sometimes, having a connective tissue disorder in the family can delay diagnosis, Gensemer explains.

“People can get accustomed to thinking that something painful is normal,” she says. “You might say something to your mom and dad, and their answer might be ‘Oh, that happens to me all the time.’”

But you can’t always be sure what’s causing your symptoms. So it’s important to talk with your doctor about any symptoms you have. Your doctor will ask about your personal and family medical history. Some common tests that look for connective disorders include imaging tests or genetic testing.

Genetic testing on its own isn’t enough to rule out some conditions, including Marfan syndrome, Cook says. That’s because the test doesn’t detect all possible genetic factors that can lead to the condition.

Researchers are continuing to search for the causes of connective tissue disorders. Gensemer, working with Dr. Russell Norris from MUSC, has built a registry of families living with hEDS. They’re now carrying out a large study looking for genes that can cause the condition.

“Having a genetic test would provide a definitive, easy, objective diagnosis,” Gensemer says. “It would also let people get a diagnosis earlier.”

Living With Connective Tissue Disorders

Researchers hope that a better understanding of the causes of these disorders will eventually lead to a cure. Currently, treatments for connective tissue disorders focus on managing symptoms.

Both Marfan syndrome and hEDS can affect your blood vessels, which makes them vulnerable to tearing. People with these conditions often need frequent monitoring. Some may eventually need surgery to make sure a blood vessel doesn’t tear.

The same gene changes that affect the blood vessels in Marfan syndrome can also weaken the heart, Cook says. His team is studying how to repair blood vessels without putting extra stress on heart tissue.

Treatment for connective tissue disorders needs to be personalized, Cook explains, because the same condition can affect people very differently. Medications are available to help with some symptoms of these disorders, like high blood pressure and reduced bone strength.

Recently, the first two medications to help heal skin damage in people with EB were approved by the U.S. Food and Drug Administration. “So now having a diagnosis can open the door to treatment for these patients,” Bruckner says.

She and her team are working on ways to repair skin damage for people with severe EB. They’re taking Cells that have the ability develop into many different cell types in the body. stem cells from patients’ skin, fixing the broken gene, and then returning repaired cells to the body. They’re testing whether these cells can heal blisters that arise in people with EB and prevent new ones from forming.

“The skin is visible, so we can just look to see whether this works,” Bruckner explains. “If it does, then we have the potential to change the stem cells into other types of cells that could potentially heal the person’s other organs.”

“It’s potentially one treatment, and you’re done for the rest of your life,” adds Dr. Anthony Oro, a stem cell researcher at Stanford University.

Oro and others are now working on a large NIH-funded project to make it easier to get stem cell therapies manufactured, so the treatment can be used for more patients. They’re starting with skin repair for EB. But other research teams are already looking at how to repair other tissues like bone, muscle, and heart tissue.

“We hope this technology will be applicable to many different disorders,” Bruckner says.