Connective tissue is made of different proteins such as collagen and elastin. It is the structure that supports the skin, eyes, heart, blood vessels and skeletal system. When the genes that carry the instructions for making connective tissue are damaged, abnormalities in these tissues can result. Among the most common connective tissue disorders are Marfan syndrome and Ehlers-Danlos syndrome (EDS).
Marfan syndrome occurs in one in every 5,000 births and is a genetic condition, which can be inherited from an affected parent or can be caused by a new gene mutation. The symptoms of Marfan syndrome are more likely to increase with age. Symptoms include:
- Dislocated lenses in the eyes
- Enlarged aorta
- Sunken or protruding chest
- Tall and thin body
- Long arms and legs
There are many forms of EDS. The most common is EDS Type III, hypermobility type. Other forms such as classic, vascular type and kyphoscoliotic type (among others) are rarer. The majority of EDS types are inherited in an autosomal dominant manner, meaning only one mutation in a causative gene is necessary to cause symptoms. There is frequently a family history of joint hypermobility and/or skin manifestations in other family members whose symptoms may vary in severity. The symptoms of EDS can vary significantly from one person to another, even within families. The most common symptoms of Ehlers-Danlos syndrome include:
- Unusual scarring
- Easy bruising
- Joint pain
- Joints that move beyond normal range (hypermobility)
- Postural hypotension (low blood pressure that occurs when you stand up after sitting or lying down)
- Overly soft, hyperextensible (able to be stretched beyond a normal range) skin
Diagnosis of Connective Tissue Disorders
Geneticists at Riley at IU Health will follow detailed criteria in order to determine if you or your child has Marfan syndrome.
Diagnostic testing for Marfan syndrome may include:
- A complete physical exam by a doctor experienced with connective tissue disorders
- A detailed medical and family history
- An echocardiogram to examine the heart and aorta
- An eye exam to ensure that the lenses are positioned normally
A diagnosis of EDS is generally made based on clinical symptoms. Gene testing is available for all types of EDS but Type III and may be recommended if a diagnosis is not certain or to confirm a clinical diagnosis.
If you or your child has a connective tissue disorder, you may meet with a genetic counselor who will discuss the condition in more detail, review the inheritance risk and ensure that proper health screenings are being completed.
Treatment options for Marfan syndrome may include:
- Aortic dissection. Patients with Marfan syndrome may require surgical replacement or repair of an enlarged aorta in order to avoid aortic rupture.
- Medicines. A cardiologist may prescribe medicine to reduce the stress on the aorta and slow the expansion of cardiovascular tissue.
- Eye surgery. Surgical replacement of a dislocated eye lens may be required.
- Corrective lenses (glasses). Corrective lenses may be necessary as loss of visual acuity often occurs.
- Surgery or bracing. Surgery or bracing may be needed to correct scoliosis as well as breastbone deformities.
Treatment options for EDS may include:
- Physical Therapy. Physical therapy may be recommended to strengthen the muscles around the affected joint to help improve stability.
- Echocardiogram screening. On occasion, any of the forms of EDS can cause a generally mild dilation of the aorta. Therefore, all patients with EDS have initial screening echocardiograms to assess aortic involvement.
Key Points to Remember
Key Points to Remember
- Connective tissue disorders affect many parts of the body, including the skin, eyes, heart, blood vessels and skeletal system.
- Among the most common connective tissue disorders are Marfan syndrome and Ehlers-Danlos syndrome (EDS).
- If you or your child has a connective tissue disorder, you may meet with a genetic counselor to discuss the condition in more detail, review the inheritance risk and ensure that proper health screenings are being completed.
- Treatment for Marfan syndrome may include medicines to reduce stress on the aorta, eyeglasses and surgery.
- Treatment of EDS may include physical therapy to improve stability and echocardiogram screening to monitor dilation of the aorta.
Support Services & Resources
Support Services & Resources
Visit the following websites to learn more about connective tissue disorders.
Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.
Genetics Home Reference, an online resource from the U.S. National Library of Medicine, provides in-depth information about Marfan syndrome
Find more information on the diagnosis and management of Ehlers-Danlos syndrome.
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