Connective Tissue Disorders

Overview

When the genes that carry the instructions for making connective tissue proteins mutate, the body makes proteins that do not work properly. The collagen and elastin become inflamed or improperly form and harm the proteins and body parts they connect.

Physicians frequently misdiagnose or have difficulty identifying connective tissue disorders. At Indiana University Health, highly skilled physicians trained in identifying connective tissue disorders can diagnose your issues and help you manage symptoms.

IU Health physicians know that each genetic change can cause many different conditions, resulting in mild to severe problems. More than 200 connective tissue disorders exist and each has its own symptoms. Some present at birth; others appear later in childhood or adulthood.

When diagnosed with a connective tissue disorder, you begin a lifelong journey of learning how to care for your body to avoid serious complications. Many connective tissue disorders carry high risks for life-threatening heart and blood vessel conditions. It may also impact your bones, joints and skin.

Treatment

At Indiana University Health Medical Genetics, our geneticists and physicians will introduce you to subspecialists who can manage your care. Connective tissue disorder conditions require extensive help to manage the many cardiovascular, skin, skeletal, vision and other symptoms that may present themselves.

IU Health physicians will partner with specialized genetics clinics. These centers will give you access to the most up-to-date therapies available for your specific connective tissue disorder.

Physicians at IU Health Medical Genetics, will collaborate with other specialists, including cardiologists and orthopedists, to create a multidisciplinary program to treat and monitor your symptoms and keep you healthy.

When genetic testing confirms a connective tissue disorder, you will have many questions. A genetic counselor will explain your specific condition, how it may change over time and which treatments and services will help. Our genetic counselors work with the IU School of Medicine Division of Clinical and Biochemical Genetics.

Connective tissue disorders can cause complications with your heart, blood vessels, bones, joints and skin. You can access the following treatment options:

Cardiovascular Health

Several connective tissue disorders weaken your blood vessels. This can lead to serious cardiovascular conditions. The most common conditions include:

Aneurysms

A ballooning of your blood vessels is common, especially in Ehlers-Danlos, Loeys-Dietz and Marfan syndromes. Thoracic aortic aneurysms occur in the sections of the aorta closest to your heart. Abdominal aortic aneurysms form in the section of the abdominal aorta below the kidneys. Regular monitoring by computed tomography (CT) scans and magnetic resonance imaging (MRI) of the aorta and controlling risk factors through diet, exercise and medicines may prevent serious issues such as vessel rupture. Surgical repair is a treatment option. If the aorta balloons too much, a synthetic replacement can be used to repair the damaged section of your aorta.

Vessel Tortuosity

With Loeys-Dietz syndrome, your arteries tend to kink up or twist, instead of being straight. This puts you at risk for aneurysms and stroke. Monitoring with computed tomography (CT) scans and magnetic resonance imaging help to manage weak areas and plan interventions, as needed.

Treatment options for these cardiovascular conditions include:

• Aortic dissection: The loss of elasticity from connective tissue disease causes your descending aorta to enlarge. The descending aorta carries oxygen-rich blood from your heart to the rest of your body. If the aorta balloons out too much, it can rupture or split from the inside, causing death. We monitor your aorta on an annual basis by taking measurements with regular imaging techniques such as an echocardiogram. If your aorta grows to more than 4.5 centimeters in diameter, we recommend a surgical repair of your aorta using a synthetic replacement. The goal is to replace your aorta before an emergency situation arises.
• Medicines. Your physician may prescribe medicines to lower your blood pressure and reduce your heart rate. This prevents bulging and tearing of your blood vessels. Beta blockers and angiotensin receptor blockers are used to treat the cardiovascular conditions of connective tissue disorders.

Skeletal Health

Connective tissue disorders cause many issues with your bones, joints and skeletal system. Some of those conditions include:

• Osteoporosis
• Osteoarthritis
• Spine deformities. Weak ligaments and bones typical in some connective tissue diseases can cause your spine to develop a curvature or hump.
• Scoliosis
• Kyphosis. A forward curving of the spine creates a hump back profile and can restrict breathing. Braces and surgery similar to those used for scoliosis relieve back pain and straighten the spine.
• Breastbone deformities. Changes to your connective tissue can create a sunken or protruding chest.
  • Pectus carinatum is a protruding chest. A brace that pushes inward on the sternum can change an outward growth pattern. Sometimes, scoliosis causes a protruding chest because the ribs are rotated. Spine surgery can help straightened the ribs.
  • Pectus excavatum, or sunken chest, happens when the connective tissue that joins the ribs to the breastbone grows too much. In severe cases, your breathing may be impaired. Surgery raises the breastbone and ribs and straightens them using a metal bar.
• Neck problems. In Loeys-Dietz syndrome and other connective tissue disorders, you may have a weakened cervical spine. You may have malformed, unstable and partially dislocated vertebrae. Surgery to join these bones together can stabilize the neck.
• Foot problems. Some connective tissue disorders include club foot which results in an abnormal foot shape. The highly-equipped skeletal dysplasia clinic treats this condition. In other connective tissue disorders, long bones, loose ligaments and larger-than-normal body frames put extra stress on your feet. This causes bunions, hammer and claw toes, turned ankles and calluses. Foot pain may cause problems. Treatments include arch supports and other orthotics, special footwear cushions and maintaining the right weight for your height. In rare cases, physicians recommend surgery.
• Joint problems. Differences in connective tissues can make your joints too loose or too tight. This affects your movement and the strength of your joints. Ehlers-Danlos syndrome often includes hypermobility. Infants with hypermobility have weak muscle tone and delayed motor skills. Loose joints increase the risk for dislocations, cause chronic pain and early arthritis. We offer physical therapy and braces to strengthen your joints and relieve pain.

Skin Health

The genetic differences of connective tissue disorders can change the appearance, function and health of your skin. Some of the skin conditions include:

• Stretchy skin. Your skin may be more elastic than usual. It may bruise easily and appear translucent. Your skin may sag and wrinkle, and you may develop extra folds of skin later in childhood. You must take care to not damage your skin and may need to restrict activities that could potentially damage it. Our dermatology experts can show you how to protect your skin by using mild soaps and sunscreen. You may also experience unusual bruising. Taking vitamin C may help.
• Abnormal scarring. In some cases, changes to the connective tissue in your skin causes wounds to split open and leave scars that widen over time. Our wound care experts can provide special sutures and wound-closure techniques to promote healing and prevent infection. To reduce scarring, the skills of a plastic surgeon can help.
• Blistering. If you have epidermolysis bullosa, your skin forms blisters with just minor irritation. This causes pain and increased risk of infection. Treating wounds and keeping skin moist can help. We offer physical therapy and swimming to decrease loss of motion caused by the scarring and tightening of your skin.

Other Conditions

Connective tissue disorders can impact every body system. The following include additional conditions that go with these genetic diseases:

• Allergies. You may experience more food allergies and environmental allergies as a result of your condition. An IU Health allergist can recommend the right tests to determine what your body’s immune system reacts to, and specific treatments for those allergens. Medicines can prevent and block allergic reactions.
• Gastrointestinal problems. Changes to the lining of your gastrointestinal track can cause inflammation, discomfort and difficulties with eating. The Gastroenterology Program at IU Health uses special technologies to diagnose and treat these issues. You may also experience abdominal pain. In some cases, severe inflammatory disease affects the intestines and esophagus. Highly-trained IU Health gastroenterologists use endoscopy and endoscopic ultrasound to determine the right medicines and therapies for your specific condition.
• Organ rupture. Weakened connective tissues can put your organs at risk. Several types of connective tissue disorders reduce the protection your organs normally receive from supportive tissues. This can lead to ruptures or splits in the organ tissue, including the spleen, kidneys, bowel and the uterus during pregnancy. Ruptures are often unpredictable, but monitoring with computed tomography (CT) scans and magnetic resonance imaging (MRI) can spot potential ruptures early.