Introduction

This fact sheet provides a brief overview of health issues of concern to adults with osteogenesis imperfecta (OI). OI is a highly variable disorder of connective tissue. Although treating fragile bone problems continues to be a significant concern for adults with OI, other medical issues related to the basic collagen defect, such as tendon, muscle and joint problems may assume more importance. Because OI can result in very different physical features and clinical symptoms from one person to the next, people with OI should discuss these issues with their primary care physicians to determine their individual risk and best courses of treatment. Many of these topics, as well as others such as pregnancy, hearing loss and preparing for surgery are covered in more detail in other OI Foundation publications.

The adult with (OI) not only needs to manage all of the same health issues as other adults but also cope with the musculoskeletal concerns associated with OI. Most adults experience a decrease in fracture rate after puberty as a result of hormonal and other metabolic changes affecting bone mass and structure. However, other medical problems, some of which are related to the basic collagen defect, may assume more importance than the orthopedic problems with age. For example adults with OI should be concerned about weight gain, diabetes, cholesterol and cardiovascular problems such as hypertension. Tendon, muscle and joint problems may be aggravated with time, and hearing loss may become significant. Vigorous and consistent medical care remains as important as it was during childhood.

The Health Care Team

An important part of managing OI and staying healthy is assembling a good health care team and having a solid working relationship with one's primary care physician and medical specialists. The medical team may include an orthopedist, endocrinologist, and nutritionist as well as rehabilitation professionals. Consultation with a pulmonologist and neurologist also may be indicated. Strategies for developing strong relationships include keeping good records, staying informed about new information about OI and available treatments, and planning ahead for emergencies. Being a good health care consumer involves providing the doctor with accurate information about one's health, listening carefully to the doctor's instructions and asking questions until the information is fully understood.

People with OI who are short in stature may want to suggest that their doctors obtain a copy of a pediatric dose chart to keep in their medical file for reference. Size may also indicate a need for a pediatric blood pressure cuff and smaller instruments for exams by the gynecologist. Adults may also want to provide any new doctor with a list of all rods or other surgical implants, since these may interfere with x-rays or an MRI. In many cases, MRI examinations can be performed in the presence of rods.

Health Concerns Related to OI

Bone density Osteoporosis

Maintaining bone mass is a priority for adults with OI because fracture risk is, in part, related to bone density. Bone density is measured by a bone mineral density (BMD) test, most commonly a dual energy x-ray absorptiometry (DXA) that can measure bone mass or density at various sites in the skeleton. An initial DXA test may be obtained at any age and then yearly thereafter. If possible, DXA scans should be done using the same machine each year to avoid variations in test results caused by different equipment. Bone density can decline as a direct result of OI, from immobilization associated with casts or limited weight bearing activity, and from age-related changes in bone and the endocrine (hormone) system. Treatments can include calcium and vitamin D supplements (if the diet is inadequate), drug therapies including oral or intravenous bisphosphonates, diet and exercise. Smoking, overuse of alcohol and medications, including cortisone-like steroids, can also negatively impact bone health. For additional information on osteoporosis, see the OI Foundation fact sheet "What People with OI Need to Know About Osteopososis."

Musculoskeletal and joint problems

Adults often report pain in their lower back and hips. This can be the result of compression fractures of the spine, scoliosis, or joint deterioration. Other problems can include non-union fractures and low muscle strength. Knee pain and ankle instability also are frequent complaints in people with OI. Exercise, orthotic devices or braces to improve hip, knee and ankle alignment and back or joint surgery may provide relief. Many individuals have joint laxity or excessive joint flexibility. This is particularly a problem for the knees and ankle joints which are subject to pressure over the years. Also leg lengths may differ due to a history of previous fractures. Rolling in of the ankle joint is another common problem.

Heel lifts and firm ankle supports are important in limiting wear and tear and improving gait. Orthotic devices may assist in providing stability for lax joints of the knees, feet and ankles.

Joint replacement surgery may be a treatment option for some, but not all, adults with OI who have joint problems.

Chronic Pain

Adults may experience pain from old fractures, compression fractures of the spine and osteoporosis. Unstable joints may increase degenerative changes, which are the source of pain in many individuals. Pain management may include life style adjustments to protect the spine, medications, and alternative treatments such as acupuncture. Adults should be wary of increasing the strength of pain medication to the point where it represses respiration or consciousness. Reduced consciousness can increase the risk of falls and fractures.

Pulmonary Function

Breathing problems are the main concern of many OI adults particularly those with Type III and Type IV OI and those individuals with significant scoliosis. Decreased chest volume, chronic bronchitis and asthma can lead to restrictive pulmonary disorder (a reduction of lung capacity). Rib fractures and muscle weakness also may contribute to the problem. Sleep apnea is a related problem for some adults with OI and can be determined with an overnight sleep test. During the sleep test, blood gases also can be measured for use in guiding future treatment.

Exercise to promote deep-breathing, regular testing of pulmonary function, and use of supplemental oxygen can help manage pulmonary function. BiPAP positive pressure breathing may help with sleep apnea or related pulmonary insufficiency.

Doctors recommend aggressive treatment of all upper respiratory infections in adults with OI. Asthma and chronic bronchitis may contribute to impaired pulmonary function and should be treated with bronchodilators, inhaled corticosteroids and antibiotics when appropriate.

Cardiac Function

A small number of OI adults seem to have heart valve abnormalities. The most common is called mitral valve prolapse. Dilation of the aorta also may occur but is not common. High blood pressure (hypertension) is as common among adults with OI as in the rest of the population. High cholesterol and related lipid disorders that may occur in families can contribute to heart problems as well. Medical management of these disorders includes appropriate diet and drug therapies and regular monitoring by the primary care physician. Drugs such as the newer "statins" can be very helpful along with diet in controlling lipid problems. Coronary artery surgery has been successfully performed on people with OI, although precautions are necessary because of tissue fragility.

Hearing

Approximately 50% of all adults with OI will experience some degree of hearing loss during their lifetime. Audiology testing and MRI examination of the hearing canals can help your doctor understand the involvement of the bones of the ear. Treatment for hearing loss usually begins with hearing aids. Some adults are candidates for either stapedectomy or cochlear implant surgery. For more information on hearing loss, see the OI Foundation fact sheet "OI Issues: Hearing Loss."

Vision

The connective tissue problem in OI can extend to the eyes. Eye examinations are recommended every two to three years. OI can affect the shape of the lens and the strength of the coat of the eye, called the sclera. For this reason, adults with OI should consult with an ophthalmologist before using contact lenses. Also, laser lens surgery is not recommended in OI.

Gastric

Gastric problems are not uncommon in OI. These include gastric acid reflux, which is aggravated by a decreased length of the chest cavity, and chronic constipation. Short stature and frequent use of various pain medications can contribute to the problem. For more information on dealing with constipation see the OI Foundation fact sheet "OI Issues: Constipation."

Kidney Stones

There appears to be a risk of kidney stones in about 20% of people who have OI. These may be caused by changes in medications or in diet such as increased calcium intake. To see if calcium levels are too high, the physician may recommend that a change in medication or diet be followed by a 24-hour urine calcium excretion evaluation.

Basilar Impression

Basilar invagination (BI) is a special problem for adults with Type III and IV OI. BI involves pressure from the spinal column on the base of the skull. Symptoms can include headache, muscle weakness, and tingling or numbness of hands and feet. Evaluation by a neurologist, including MRI examination of the cervical spine and base of the skull, is necessary. It has been reported that some individuals have BI, but their symptoms do not get progressively worse.

Health Concerns in Common with Other Adults

Maintaining a healthy weight should be a priority. Being overweight, not only increases risk for many health problems, such as diabetes and cardiovascular problems, but puts additional stress on the skeleton, which is particularly unhealthy for people with OI. Diet recommendations for people with OI should be individualized. Consultation with a nutritionist may be helpful to design a balanced diet and deal with cholesterol and blood pressure problems. Diet modifications may also be needed to help people with chronic constipation and gastric reflux. In general, a good daily multivitamin pill will be sufficient for adults with OI and exotic vitamin supplements are not required.

OI adults with short stature may require less calcium and vitamin D supplement than usually prescribed. Total calcium intake of 800-1000 mg/day is usually sufficient. Supplemental vitamin D intake should not exceed 800 IU/day.

Physical activity to maintain or restore function is a goal of good health management. A low impact exercise program that may incorporate swimming, a stationary bicycle, or Nordic Track is highly recommended. It is important to exercise safely within the range of one's abilities. Consultation with a rehabilitation professional may be necessary to develop an individualized and appropriate program.

A common complaint involves fatigue and weakness. While muscle weakness may underlie this complaint a medical evaluation should be conducted by the primary care physician. Problems such as sleep apnea, anemia or impaired pulmonary function may contribute to a sense of fatigue. In addition, postmenopausal women experiencing fatigue and weakness should be evaluated by a gynecologist. In some cases use of hormone therapy may be appropriate in spite of concerns regarding negative side effects because of the positive effects of this medication on bone strength.

There are no statistics regarding OI and alcohol abuse, but primary care physicians who are familiar with OI urge moderation in individuals who chose to drink alcoholic beverages. Individuals who are taking medications should check whether alcoholic beverages are permitted. Impaired coordination resulting from too much alcohol or inappropriate mixing of alcohol and medications could lead to a serious injury for an adult with OI.

Health care professionals also report that stress as well as the pressures of dealing with chronic health issues can put an individual at risk for mental health problems. Adults with OI, like other adults, should seek assistance if they experience excessive anxiety or depression.

After the age of 40, adults with OI should have a complete physical each year. It has been reported that the incidence of cancer and diabetes among adults with OI is similar to rates seen in the general population.

Tips for staying healthy as an adult with OI

* Maintain a healthy weight.

* Eat a balanced diet with appropriate levels of Calcium and vitamin D.

* Do not smoke.

* Use alcohol only in moderation.

* Consult with a physical therapist to design a safe exercise program to maintain and develop muscle strength and aerobic fitness. Consider a home exercise program or one that can be done at a local gym. Walking and swimming are beneficial activities.

* Have regular medical check-ups as recommended for any adult, including, for women, gynecological exams and mammograms.

* Monitor kidney function to prevent development of kidney stones.

* Test for bone density every 1-2 years.

* Seek treatment for decreasing bone density, endocrine (hormone) problems, and osteoarthritis symptoms.

* Test hearing every 2-3 years.

* Test vision every 2-3 years.

* Manage blood pressure and cholesterol levels through diet, exercise and medication.

* Have a base-line cardiac evaluation possibly including an echocardiogram.

* Test pulmonary function every 1-2 years.

* Consider a sleep study if symptoms of sleep apnea occur.

* Aggressively treat all upper respiratory infections including colds.

* If a symptom is persistent or troubling ask the doctor if it is being treated in the same manner as it would for a patient who does not have OI.

This fact sheet was prepared by the OI Foundation with the assistance of Jay Shapiro, M.D., director of the OI Clinic at the Kennedy Krieger Institute, Baltimore, Maryland.

This information is brought to you by the
NIH Osteoporosis and Related Bone Diseases~National Resource Center (ORBD~NRC)
and the Osteogenesis Imperfecta Foundation

National Institutes of Health
Osteoporosis and Related Bone Diseases
National Resource Center
1232 22nd St., NW
Washington, DC 20037-1292
Tel: 800/624-BONE or 202/223-0344
Fax: 202/293-2356, TYY: 202/466-4315
http://www.osteo.org
E-mail: orbdnrc@nof.org

The National Resource Center is supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases with contributions from the National Institute of Child Health and Human Development, National Institute of Dental and Craniofacial Research, National Institute of Environmental Health Sciences, NIH Office of Research on Women's Health, Office of Women's Health, PHS, and the National Institute on Aging. The Resource Center is operated by the National Osteoporosis Foundation, in collaboration with the Paget Foundation and the Osteogenesis Imperfecta Foundation.