Summary
Bone abnormality, known as osteogenesis imperfecta (OI), is a congenital (existing at birth) hereditary condition. It is commonly referred to as “brittle bone disease”, and the severity of the symptoms and signs can vary in different individuals. As a result of OI, a baby may have abnormally soft bones, which are more likely to shatter (fracture) or have abnormal bone formation (Cleveland Clinic, 2021). To gain a more profound insight into the treatment of the disease, different factors should be addressed, such as its causes, signs and symptoms, types, laboratory tests involved, treatment, diet for the patients, and prognosis.
Cause of the Disease
Transmission of OI occurs through genetics. There are various modes by which each type is passed on; the gene that causes the disease could be inherited from either or both of your parents. Genes can also be passed on by spontaneous mutation, an event without a clear cause. Usually, one of two defective genes is to blame for OI in newborns (Hopkins, 2022). These genes aid collagen formation; bones, muscles, organs, and other structures throughout the body are held together and supported by connective tissue, of which collagen is an essential component.
Signs and Symptoms
Some signs and symptoms related to osteogenesis imperfecta include fractures from small falls or trauma. Patients may also have skeletal abnormalities such as bow legs. People with OI sometimes have abnormalities like a curved spine or bowed legs because of this condition. The sclera, or white of the eye, may also become discolored in people with OI. This discoloration typically takes on a blue or gray hue (Kivi, 2022). People with OI may have a barrel-shaped chest, which is larger at the top and narrower at the bottom, which results in back pain and trouble standing or walking. Those with OI may have a triangular face, a large forehead, a narrow jaw, and large eyes. Joint pain and instability are common complaints among people with OI because of their potentially very flexible joints.
Types of the Disease
According to specialists, there are 19 distinct forms of OI. Osteogenesis imperfecta is categorized by medical professionals into Types I through XIX. Common kinds of osteogenesis imperfecta include the first four listed (MedlinePlus, 2020). In this category are items such as Type I OI, the most common and least severe. Fractures of the skeleton and a loss of muscle strength characterize type I, and no bone deformities result from this. Infants born with Type II generally have trouble breathing and pass away early. Prenatally, a newborn with Type II usually breaks several bones (National Institutes of Health, 2021). Babies of Type III tend to develop fractures at birth, and disabilities of a severe physical nature are common in individuals with Type III. In turn, Type IV is characterized by possible fragility of bones. The first bone break typically occurs before the youngster reaches puberty. Slight to moderate bone deformation is a possibility for those with Type IV.
Laboratory Findings
For the diagnosis of Osteogenesis Imperfecta (OI), laboratory findings play an important role. A complete blood count (CBC) and electrolyte levels can reveal anemia, leukopenia, or thrombocytopenia, which are associated with OI. The liver and kidney function tests can help to determine if there are any secondary complications. A genetic test, such as a collagen gene analysis, can identify the defective gene responsible for the disease and detect mutations in the COL1A1 and COL1A2 genes (Herlihy, 2017). This can help determine the type and severity of OI and aid in the prognosis. In addition, a urine hydroxyproline test measures the levels of hydroxyproline, an amino acid found in collagen (Shriver, 2021a). Low levels of hydroxyproline in the urine can confirm the presence of OI and aid in monitoring the effectiveness of treatment. Normal levels of hydroxyproline in the urine can indicate that OI is not the cause of the patient’s symptoms. X-rays can evaluate bone health and reveal the presence of fractures or abnormalities.
Treatment
Alendronate and risedronate are two examples of bisphosphonates used to lessen the likelihood of fracture. As a rule, these drugs are either taken orally or given intravenously (OI Foundation, 2019). Bisphosphonates frequently cause adverse reactions such as acid reflux, tummy upset, puking, and diarrhea. Calcitonin may be administered as a nasal spray, injection, or skin patch (Ramachandran, 2022). This drug might cause adverse effects, such as nasal irritation, headache, and nausea. In turn, teriparatide is an injectable version of human parathyroid hormone that may cause nausea, dizziness, and headaches.
Bisphosphonates are commonly administered to children with OI to improve their bone health and lessen the likelihood that they may suffer a fracture. Most pediatricians will recommend between 5 and 30 milligrams per kilogram of body weight per day for children aged 6 to 10 (Shriver, 2021b). These would be between 10 and 50 milligrams per kilogram of body weight per day for children aged 11 and more. Alendronate is often administered in a single weekly dose of 70 mg, or in a maintenance dose of 10 mg once day (Shriver, 2021b). Risedronate is typically taken at a weekly dose of 35 mg; calcitonin dosing considerations include the patient’s age, route of administration, and current health status (Shriver, 2021b). Teriparatide is administered through subcutaneous injection once daily at a dose of 20 mcg.
Diet
A balanced and nutrient-rich diet is important for patients with OI to support the healing of fractures. Adequate calcium and vitamin D intake is crucial for building and maintaining strong bones (Herlihy, 2017). Foods high in calcium include dairy products, leafy greens, and fortified foods such as orange juice. Vitamin D can be obtained through exposure to sunlight or through foods such as fatty fish, egg yolks, and mushrooms. It is important to talk to a doctor or dietitian about the appropriate amount of calcium and vitamin D for a patient with OI, as too many of these nutrients can also have negative effects (Herlihy, 2017). Additionally, a balanced diet that includes lean proteins, whole grains, and fruits and vegetables can help with overall health and healing.
Prognosis
Osteogenesis imperfecta (OI) has a range of prognoses depending on the patient’s specific symptoms. People with mild forms of OI may be able to lead normal lives and have normal lifespans (NHS Foundation, 2019). When OI progresses to a severe state, it can cause profound physical impairment, ongoing suffering, and even death. Those with severe types of OI are more prone to fractures, respiratory issues, curvature of the spine, and dramatically shorter life expectancies. Quality of life and risk of consequences can both be enhanced by treatment and management of the illness.
References
Cleveland Clinic. (2021). Osteogenesis Imperfecta: Types, symptoms & management. Web.
Herlihy, B. (2017). The human body in health and illness (6th ed.). Elsevier.
Hopkins. (2022). Osteogenesis Imperfecta. Johns Hopkins Medicine, based in Baltimore, Maryland. Web.
Kivi, R. (2022). Brittle bone disease (Osteogenesis Imperfecta). Healthline. Web.
MedlinePlus. (2020). Osteogenesis imperfecta: MedlinePlus genetics. MedlinePlus – Health Information from the National Library of Medicine. Web.
National Institutes of Health. (2021). Osteogenesis Imperfecta. National Institute of Arthritis and Musculoskeletal and Skin Diseases. Web.
NHS Foundation. (2019). Osteogenesis Imperfecta (OI) and vitamin D. GOSH Hospital site. Web.
OI Foundation. (2019). Nutrition and OI. Web.
Ramachandran, M. (2022). Osteogenesis Imperfecta (OI) treatment & management: Approach considerations, pharmacologic therapy, cellular and genetic therapy. Diseases & Conditions – Medscape Reference. Web.
Shriver, E. K. (2021a). What are the treatments for osteogenesis imperfecta (OI)? US Department of Health and Human Services. Web.
Shriver, E. K. (2021b). How do healthcare providers diagnose osteogenesis imperfecta (OI)? US Department of Health and Human Services. Web.