Care for Adults Who Have OI

The combination of OI, normal agin, and a variable series of issues requires that medical care be approached in an individual yet comprehensive manner.  A care plan for an adult who has OI will need to address the musculoskeletal concerns associated with OI; the non-skeletal issues associated with OI and also manage all of the same health issues seen in unaffected adults. Most adults with OI experience a decrease in the rate of fractures after puberty but may also see an increase in tendon, muscle and joint problems. Hearing loss may progress. Fracture rate may begin to increase again during the latter ages when bone mineral density tends to decrease due to hormonal and age-related issues. For some people, this may begin around age 40. Vigorous and consistent medical care remains as important across the adult years as it was during childhood.

Interdisciplinary Care

Adults benefit from coordinated interdisciplinary care from physicians familiar with OI. A number of medical centers across the United States and Canada have OI clinics and/or research programs that see adults. The OI Foundation maintains a “Clinic Directory” on its website. Besides a primary care physician (internist) and an orthopedist, adults often see a pulmonologist, an endocrinologist, an otolaryngologist, a dentist and a gynecologist or urologist.  Physical therapy is a valuable adjunct to comprehensive care.

General Adult Care

  • The general health needs of adults with OI are the same as in unaffected adults.
  • Weight management, healthy diet, appropriate exercise and maintenance of bone mass are the corner stones of health management.
  • Reproductive and sexual health information should be provided.
  • Concerns related to pregnancy should be anticipated where appropriate.
  • Immunizations are considered beneficial.
  • CPR is recommended in life threatening situations.
  • The incidence of conditions such as diabetes, cancer, and heart disease appear to be similar to adults who do not have OI.
  • OI may complicate treatment of various illnesses or injuries due to fragility of the bones, the blood vessels and the internal organs.
  • Adults with all types of OI have a predisposition to respiratory infections which may be more serious in those with OI Type III.
  • A small sized cuff for measuring blood pressure and smaller instruments for gynecological exams may be needed.
  • Ask the new patient who has OI for a list of rods or other surgical implants since these may interfere with x-rays or an MRI.
  • When the adult with OI describes a new or troubling symptom or a change in pain level, evaluate it as you would with any other patient.
  • Referral to rehabilitation services may be needed to develop and monitor home exercise and physical activity programs.
  • It is beneficial when primary care office personnel, radiologists, and gynecologists are trained in OI-specific safe handling techniques.

Medicines

  • Titrate medication dosage to the adult’s weight and height, not only to the patient's age. It is helpful to have a pediatric dose chart on hand.
  • Monitor the use of NSAIDS due to link to delayed bone healing after fracture.
  • Minimize the use of drugs that contain steroids because of negative effects on bone.
  • Limit the use of antibiotics known as fluroquinolones (Cipro, Levaquin, etc.) due to risk of spontaneous tendon rupture in people with a connective tissue disorder.

Monitoring

  • Routine screenings are needed for vision, dental, and hearing.
  • Bone density testing to monitor changes over time or with treatment.
  • Echocardiogram as a baseline aorta and heart valve screening during later teen years or early 20’s.
  • Quantitative Pulmonary Function Test (PFT) every 2 years.
  • Screen for post-menopausal changes to spine, joints and signs of arthritis.
  • Monitor changes in pain level and assess for non-OI problems.
  • Annual physicals after age 40.

Specific Health Concerns

The following health concerns may be seen in your adult patients who have OI. They are discussed in more detail in the supplemental document, Adult OI Health Concerns.

  • Fracture Prevention
  • Maintaining Bone Density
  • Cancer
  • Cardiac Function
  • Chronic Pain
  • Fatigue
  • Hearing
  • Mobility Loss
  • Muscle, Tendon, Ligament and Joint Problems
  • Pulmonary Function
  • Reproductive System and Menopause
  • Vision

Use of Bone Building Drugs

Adults who have OI frequently are treated with bisphosphonates and other drugs developed to treat age-related bone loss. Bisphosphonates and other bone drugs do not address any of the non-skeletal features of OI. For a discussion of pros/cons and doses, please see the section on pharmacological treatment under the Treatments Section of this website.

Fracture Management for Adults

  • The majority of fractures seen in people who have OI are nondisplaced and can be managed with immobilization.
  • Fracture immobilization should be with the lightest materials possible. OI bone is fragile and can easily fracture proximal to a cast of “normal” weight.
  • Adults may have intramedullary rods of different ages and types in one or more long bones. Their placement and condition should be evaluated if a fracture occurs in a rodded bone.
  • Use of plates and screws to repair a fracture is rarely recommended for the person with OI.
    • Poor bone quality leads to screw and plate instability.
    • Plate rigidity can cause bone loss underneath the plate and fractures above and/or below the plate.
    • Screw holes may add to bone fragility and predispose to new fracture.

Fractures and Travel

Business and personal travel is often part of an adult’s life. Adults who have OI and who experience a fracture away from home are advised to delay flying until the swelling has subsided since altitude causes swelling and aggravates inflammation. A person with a new fracture, who absolutely must travel, can be made more comfortable by icing the limb prior to take off and throughout the flight.

Other Orthopedic Concerns

  • Spine curves may progress and need to be monitored. Surgery is sometimes necessary.
  • The incidence of non-unions in adults with OI is higher than that seen in other adults.
  • Rods sometimes migrate and become extremely painful. These may require surgery to repair, replace or remove. Rods that have not moved and are not painful usually do not need to be removed or replaced.

Diet and Nutrition

Obesity occurs in young adults, particularly in those who are wheelchair dependent. Hormonal changes related to puberty can contribute to unhealthy weight gain, especially in girls who have OI. Weight control is important, as obesity places a strain on the fragile skeleton and can lead to loss of mobility. Calcium and vitamin D supplementation is sometimes required. Nutritional counseling may be beneficial.

Mental Health

The stress of dealing with chronic health issues can put an individual at risk for mental health problems. Signs of excessive anxiety, depression or substance abuse should be addressed.

Other Treatment Information

Additional information about treatments for hearing loss, cardiac, vision, respiratory and other issues associated with OI can be found in the Non-Skeletal Issues section of the website. The section on The Treatment Section covers musculoskeletal issues. 

References 

Shapiro JR, Brennen F-S. Osteogenesis Imperfecta: Maintenance of Adult bone Health (509-518). In Shapiro JR. (Ed.). (2014). Osteogenesis Imperfecta: A Translational Approach to Brittle Bone Disease 1st edition. New York, NY: Elsevier Academic Press.

Trovato MK, Schultz SC, Joseph C. Rehabilitation for Adults with Osteogenesis Imperfecta (485-491). In Shapiro JR. (Ed.). (2014). Osteogenesis Imperfecta: A Translational Approach to Brittle Bone Disease 1st edition. New York, NY: Elsevier Academic Press.

Attribution Thank you to Dr. Sandesh Nagamani, Baylor College of Medicine, Houston, TX and Dr. Jay Shaipro, Bethesda, MD for reviewing this document. March 2015.

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