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Connective Tissue Disorders Treatment Information
Connective tissue disorders can cause complications with your heart, blood vessels, bones, joints and skin. Below are treatment options available to help with each.
Several connective tissue disorders weaken your blood vessels. This can lead to serious cardiovascular conditions. Below are the most common and their treatment options.
- 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.
- 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.
- 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.
Connective tissue disorders cause many issues with your bones, joints and skeletal system. Here are some of those conditions and their treatments.
- Osteoporosis. A connective tissue condition can mean your bones have poor mineralization and less bone mass. This makes them weak and more likely to break. Medicines used to treat osteoporosis, and vitamin D and calcium supplements, can slow bone loss and strengthen bones. To aid the brittle bones of osteogenesis imperfecta, we provide bone stability by using implants.
- Osteoarthritis. This is a common form of arthritis characterized by the loss of the soft cushioning between the bones in a joint. When that lining is not present or is very thin, bones rub against each other and cause pain. Medicines and physical therapy help relieve this pain.
- Spine deformities. Weak ligaments and bones typical in some connective tissue diseases can cause your spine to develop a curve or hump.
- Scoliosis. The bones or vertebrae in your spine twist sideways because the ligaments are not strong enough to hold them in place. Curvature of the spine causes back pain, decreased lung function and posture problems. The severity of the curve determines the best treatment. A brace prevents your scoliosis from getting worse if the curvature is between 20 and 40 degrees. Surgery is an option to straighten spines with greater curves. Metal rods are fused to the vertebrae to keep the spine straight.
- 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 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.
- 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.
- Neck problems. In Loeys-Dietz syndrome and other connective tissue disorders, your cervical spine may be weak. Your vertebrae can be malformed, unstable and partially dislocated. Surgery to join these bones together can stabilize the neck.
- Foot problems. Club foot is an abnormal foot shape found in some connective tissue disorders. Our skeletal dysplasia clinic is highly equipped to treat this condition. In other connective tissue disorders, long bones, loose ligaments and larger than normal frames put extra stress on your feet. This causes bunions, hammer and claw toes, turned ankles and calluses. Foot pain may be a problem. Treatments include arch supports and other orthotics, special footwear cushions and maintaining the right weight for your height. Surgery is rarely needed.
- 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.
The genetic differences of connective tissue disorders can change the appearance, function and health of your skin. Some of the skin conditions and treatment options are below.
- 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 be potentially damaging. 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.
Connective tissue disorders can impact every body system. Below are additional conditions and treatments that accompany 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 GI Motility 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. IU Health gastroenterologists are experts at using 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.
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Connective Tissue Disorders Support Services
Learn more about connective tissue disorder treatments at these websites:
A Sampling of Connective Tissue Disorders Support Services
- Genetics Home Reference
National Institute of Arthritis and Musculoskeletal and Skin Diseases
This government agency provides information about connective tissue disorders including diagnosis, prevalence and treatments.
The Ehlers-Danlos National Foundation
This national nonprofit organization provides support for individuals and families living with this connective tissue disorder. It also funds research.
National Marfan Foundation
This national foundation fosters research, education and patient support for those living with Marfan syndrome and many of the Marfan-like conditions, including Loeys-Dietz syndrome. It also provides extensive information about rare connective tissue disorders, including Shprintzen-Goldberg syndrome.