Pharmacological Management of Osteogenesis Imperfecta in Children and Nursing Implications

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Osteogenesis imperfecta is a rare inherited disorder which effects type one collagen throughout the body. At the current time there is no pharmacologic cure, but treatment is needed to manage the symptoms of this disease process (Osteogenesis Imperfecta Foundation website, 2015). The most predominant symptom of osteogenesis imperfecta is frail, brittle bones which fracture easily. The use of bisphosphonates to increase bone density of children and decrease fractures in children with this disease is the most accepted pharmacologic treatment at this time. However, there is a lack of research on the efficacy and length of time for which a child should be administered this medication (Brizola & Shapiro, 2015). As osteogenesis imperfecta is a chronic, lifelong disorder many children with this diagnosis will be hospitalized at one time or another. It is important that that care takers of these patients are fully educated on the proper techniques necessary to ensure a safe stay both in the hospital setting and at home. Nurses need to have a heightened awareness of the increased fracture risk of these patients as even a simple, routine blood pressure measurement can cause a fracture for the patient (National Institute of Health, 2007). Nurses also need to educate the parents of children diagnosed with osteogenesis imperfecta on how to properly handle a newborn, cast care, pain management and how to create a fracture free home and school environment. Although, no cure for osteogenesis imperfecta exists the combination of pharmacologic management, nonpharmacologic therapy (physical, rehabilitation and occupational) and lifestyle changes can help to manage symptoms and increase the quality of life of these children (National Institute of Health, 2007).

Discussion

Osteogensis Imperfecta is a rare genetic disorder which decreases the amount or quality of type one collagen throughout the body (Osteogenesis Imperfecta Foundation website, 2015). This type of connective tissue disorder affects bone development (leading to fragile, brittle bones), dentinogenesis imperfecta, soft tissue discoloration (as seen in the sclera) and joint hyperlaxity (Montpetit, Palomo, Glorieux, Fassier, & Rauch, 2015). Currently, there are eight different classifications of osteogenesis imperfecta (Type I -Type VIII) as well as additional, rare forms; such as Osteoporosis-Pseudogloima Syndrome, Cole-Carpenter Syndrome, Bruck Syndrome and Osteogenesis Imperfecta/Ehlers-Danlos Syndrome (National Institute of Health, 2007). These disorders range from mild to severe, with the most severe forms of this condition being incompatible with life (Osteogenesis Imperfecta Foundation website, 2015). Although the exact number of people with osteogenesis imperfecta is unknown, it is estimated that there are around "twenty-five to fifty thousand people" who are living with this disorder in the United States alone (National Institute of Health, 2007, p. 1).

The diagnosis of osteogenesis imperfecta is usually made by a geneticist (Osteogenesis Imperfecta Foundation website, 2015). The geneticist bases the diagnosis of this condition on the "presence of fractures and clinical features" as well as a "familial history of this disorder and/or genetic testing" (Osteogenesis Imperfecta Foundation website, 2015, screen 1). Usually, osteogenesis imperfecta is an autosomal dominant condition (Rijks et al., 2015). The different types of osteogenesis imperfecta are characterized by "increased bone fragility, predisposing to fractures, a low bone mass, bone deformities, and short stature" (Rijks et al., 2015, p. 26). "In addition, children with osteogenesis imperfecta frequently exhibit vertebral compressions, blue sclera, premature hearing loss, dentinogenesis imperfecta, easy bruising, hypermobility, low muscle tone, a reduced exercise capacity and muscle weakness" (Rijks et al., 2015, p. 27). Osteogenesis imperfecta is a permanent disorder with no current cure (Osteogenesis Imperfecta Foundation website, 2015).

Treatment for children with this disorder "focuses on minimizing fractures, the surgical correction of the deformity, reducing bone fragility by increasing bone density, minimizing pain, and maximizing mobility and independent function" (National Institute of Health, 2007, p. 12). These treatments include lifestyle modification to reduce fracture risk, surgical corrections of both fractures and bone deformities, physical therapy, weight management as well as pharmacological therapy such as oral and intravenous bisphosphonates and growth hormone therapy (National Institute of Health, 2007).

"Bisphosphonates inhibit the activity of osteoclasts to normalize the rate of bone turnover" (Edmunds & Mayhew, 2014, p. 432). This mechanism of action increases bone density, therefore, decreasing the risk of both a vertebral and nonvertebral fracture (Edmunds & Mayhew, 2014). The United States Food and Drug Administration has approved the use of bisphosphonates for treatment and prevention of osteoporosis, but the use of bisphosphonates in osteogenesis imperfecta of all medications are off-label (National Institute of Health, 2007). Despite their off-label use, the standard of care for the child with osteogenesis imperfecta includes a second and third generation oral and intravenous bisphosphonate (Rijks et al., 2015). The use of these medications (eg. alendronate, pamidronate, olpadronate and risedronate) has been proven to significantly improve the bone density of children with osteogenesis imperfecta (National Institute of Health, 2007).

Not only has there been an improvement in bone density with the use of bisphosphonates in children with this condition, research has shown that children treated with these medications has lead to an increase in "vertebral height, relief of musculoskeletal pain and fatigue, improvement in muscle strength and mobility and a positive impact on activities of daily living (Brizola & Shapiro, 2015, p. 101). The "more severely affected infants and children seem to benefit the most from bisphosphonate treatment" (National Institute of Health, 2007, p. 15). The younger the patient was when started on bisphosphonates the greater the response the patient seemed to have (National Institute of Health, 2007).

Despite the positive impact that bisphosphonates make in the lives of the children diagnosed with this condition, there are many of unanswered questions associated with the use of bisphosphonates. Currently, it is "unclear whether oral or intravenous bisphosphonates treatment consistently decreases fractures" (Brizola & Shapiro, 2015, p. 102). Recurring infusions with intravenous pamidronate is the mostly commonly used and is the gold standard of bisphosphonates (Rijks et al., 2015). Despite an increase in bone density, some patients lack a decrease in fracture rate (National Institute of Health, 2007). There is no evidence as to why this occurs with some patients (National Institute of Health, 2007). Also, there is no conclusive evidence on the length of time a child should be on bisphosphonates for (Brizola & Shapiro, 2015). The overuse of bisphosphonates may lead to the "hypermineralization and increased bone stiffness" (Brizola & Shapiro, 2015, p. 102). Research is currently ongoing and is taking a closer look at the optimal dosing schedule "lower dosages, drug holidays after three to five years, and a gradual program tapering off" (National Institute of Health, 2007, p. 16). The maximum benefit of treatment from the use of bisphosphonates seems to be within the first three to four years after use (National Institute of Health, 2007). "There is no consensus on the preferred administration method of the bisphosphonates (Rijks et al., 2015, p. 39).

The adverse effects of bisphosphonates are dependent upon their administration method (oral or intravenous) (Rijks et al., 2015, p. 39). Many patients experience flu like symptoms after the first infusion cycle of intravenous bisphosphonate administration and hypocalcemia (Rijks et al., 2015). Children who received oral bisphosphonates complained of "gastrointestinal or abdominal complaints, headache, vomiting and pain in the arm or legs" (Rijks et al., 2015, p. 39). Osteonecrosis of the jaw is more common in patients on intravenous bisphosphonates, but has been reported in patients taking oral bisphosphonates (Edmunds & Mayhew, 2014).

Prior to taking bisphosphonates patients should have adequate nutrition; any hypocalcemia and vitamin D deficiency must be corrected (Edmunds & Mayhew, 2014). Baseline labs such as serum calcium, creatinine, vitamin D, phosphorus and chemistry panels should be obtained prior to bisphosphonate administration (Edmunds & Mayhew, 2014). Creatinine clearance should also be checked prior to administration as many bisphosphonates are not recommended in children with renal insufficiency (Edmunds & Mayhew, 2014). Reclast (zoledronic acid) has an increased risk of kidney failure and is "contraindicated in patients with a creatinine clearance

Although, growth hormone therapy is mentioned as an adjunct pharacotheraputic in the management of osteogenesis imperfecta there is no standard guidelines for its use (National Institute of Health, 2007). Currently, research is investigating the use of growth hormones in children with this disorder and the "results have been variable" (National Institute of Health, 2007, p. 16).

Bone pain in children with osteogenesis imperfecta "can be significant and chronic" (National Institute of Health, 2007, p. 19). Ibuprofen is recommended for chronic bone pain. In the event of an acute fracture adequate pain relief sometimes requiring "pain medication more powerful than ibuprofen for short periods of time" is necessary, especially in the fracture of a the femur (National Institute of Health, 2007, p. 19).

Many children with osteogenesis imperfecta come into the hospital setting for a variety of treatments such as medication infusion, surgical intervention, rehabilitation, therapy and during the diagnosis phase of this disease process. It is important for the nurses to take special precautions as these children have a high risk for fractures. Automatic blood pressure cuffs should be avoided with children with osteogenesis imperfecta as the pressure may cause a fracture (National Institute of Health, 2007). Avoid taking a blood pressure on an arm which has been repeatedly fractured or bowed (Osteogenesis Imperfecta Foundation website, 2015, p. 20). Cardiopulmonary resuscitation, although not contraindicated, should be adjusted as "children with osteogenesis imperfecta may require less forceful compressions" (National Institute of Health, 2007, p. 20). Safe care in handling of the patient, especially a newborn, to reduce the risk of fracture is imperative. Nurses should ensure that the hospitalized patient has adequate pain control at all times. "It is a myth that children with osteogenesis imperfects feel less pain than other patients" (National Institute of Health, 2007, p. 19).

Nurses and hospital staff need to keep in mind that in severe cases of osteogenesis imperfecta, where chest deformities are present, this may decrease the lung capacity of the patient (National Institute of Health, 2007). The nurse should frequently assess the respiratory status of a child diagnosed with osteogenesis imperfecta. Patients with this disorder frequently have "higher rates of asthma and pneumonia" than people who do not have osteogenesis imperfecta (National Institute of Health, 2007, p. 20).

A significant nursing implication is the amount of teaching necessary for the nurse to educate the parent of a child with osteogenesis imperfecta. "Proper techniques are necessary for standing, sitting or lifting to protect the spine" (National Institute of Health, 2007, p. 13). Creating a low fracture risk environment is key. Encouraging the parents to contact support systems such as the Osteogenesis Imperfecta Foundation for help can be helpful. Infant care is particularly delicate in these babies. Normal handling of these children can cause fractures, even lifting them by the ankles when changing a diaper can inadvertently harm the child (National Institute of Health, 2007). It is vital that nurses should ensure that the parents and patient should receive age appropriate medication and nutritional information. As "children with osteogenesis imperfecta need a balanced diet that contains adequate water, fiber, calcium, and vitamin D calibrated to their age and size" (National Institute of Health, 2007, p. 18).

Conclusion

Personally, I take care of approximately a dozen children diagnosed with this disorder (ranging in age from two through twenty). Prior to researching this topic, I was under the impression a common treatment plan was in placed for the all children who are diagnosed with this disorder. My research has informed me that the exact pharmacological treatment of children with osteogenesis imperfecta is currently unknown. Although, all children should be placed on bisphosphonates, I was unaware oral bisphosphonates may be used to treat this disorder. The children I care for in the hospital setting receive only zolendronic acid (Reclast) or pamidroate intravenous infusions and I was under the impression it was for an indefinite period of time. After completing my research, I have learned that the length of time a child should be receiving bisphosphonate treatment is in research and it is unknown if the use of these medications should continue throughout the lifespan of the child or be used for a limited amount of years (National Institute of Health, 2007).

While in the hospital setting, my patients' parents have expressed their concerns about hospital staff accidently causing fractures, due to lack of education of the nurses. Many times it is the parent who is forced to be the educator for the nursing/hospital staff, which should not be the case. Nurses and the hospital staff should be thoroughly competent on how to care for a child with osteogenesis imperfecta. This paper has helped to advance my personal nursing knowledge, helping me to become more competent when caring for patients with this disorder. Without thorough competence, one cannot truly care for the patient fully (Roach, 1992).

References

Brizola, E., & Shapiro, J. R. (2015). Bisphosphonate treatment of children and adults with osteogenesis imperfecta: unanswered questions. Calcified Tissue International, 97, 101-103. from Edmunds, M. W., & Mayhew, M. S. (2014). Pharmacology for the primary care provider (4th ed.). St. Louis, Missouri: Elsevier Mosby.

Montpetit, K., Palomo, T., Glorieux, F. H., Fassier, F., & Rauch, F. (2015). Multidisciplinary treatment of severe osteogenesis imperfecta : functional outcomes at skeletal maturity. Archives of Physical Medicine and Rehabilitation, 18, 1834-1839.

National Institute of Health. (2007). Guide to osteogenesis imperfecta for pediatricians and family practice physicians. Retrieved from Page Not Found - Osteogenesis Imperfecta Foundation | OIF.org

Osteogenesis Imperfecta Foundation website. (2015). Osteogenesis Imperfecta Foundation | OIF.org

Rijks, E. B., Bongers, B. C., Vlemmix, M. J., Boot, A. M., Van Dijk, A. T., Sakkers, R. J., & Van Brussel, M. (2015). Efficacy and safety of bishosphonate therapy in children with osteogenesis imperfecta : a systematic review. Hormone Research In Paediatrics, 84, 26-42.

Roach, S. M. (2002). Caring, the human mode of being: a blueprint for health professions (2nd Rev. ed.). Ottawa: Canadian Healthcare Association Press.

Pharmacological Management of Osteogenesis Imperfecta in Children and Nursing Implications

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