Updated: 10/2/23
Do you worry about your bone health and the possibility of having brittle bones? You’re not alone. Osteogenesis Imperfecta (OI), often called ‘brittle bone disease,’ affects around 25,000 people in the United States every year. While living with OI can be challenging, there is hope for those battling this genetic medical condition. Modern treatment options can help to protect against brittle bones and improve quality of life! In our blog post today we will delve into understanding more about OI and explore options available for managing its symptoms.
What is Osteogenesis Imperfecta?
Osteogenesis imperfecta, also called brittle bone disease, is a genetic disorder that causes bones to fracture or break easily, often without obvious cause. It’s quite rare and fortunately people with this disorder heal well.
Osteogenesis imperfecta (OI for short) affects both genders at the same rate. The prevalence of the condition in the U.S. is unknown. It’s estimated that type I osteogenesis occurs in 1 out of 30,000 live births. Type 2 osteogenesis is estimated to happen in 1 out 60,000 live births. And around 25,000-50,000 people in America suffer from osteogenesis imperfecta.
The specific symptoms associated with osteogenesis imperfecta vary greatly from person to person. The severity of the condition also varies significantly, even among family members. Brittle bone disease can be a mild condition or may cause severe complications.
There are four main forms of osteogenesis imperfecta. Type I osteogenesis imperfecta is the mildest and most common. Type 2 osteogenesis is the most serious. In most cases, the various forms of brittle bone disease are hereditary autosomal dominant traits.
Most forms of osteogenesis imperfecta are caused by one dominant mutation in any of two collagen genes in type I osteogenesis imperfecta — COL1A1 or COL1A2. These genes provide directions for producing proteins used to make a bigger molecule known as type I collagen.
Type I collagen is the main protein in skin and bone, as well as other tissues that give the body structure and strength. And recessive mutations occur in the gene known as CRTAP, causing type VII osteogenesis imperfecta.
Osteogenesis imperfecta has no cure, but individuals can help prevent the disease or treat it with conventional and home remedies.
Symptoms of Osteogenesis Imperfecta
Types I and II
Osteogenesis imperfecta makes bones fragile and easy to break and leads to other health problems. There are four main types of Osteogenesis Imperfecta, each with varying degrees of severity. The most common is Type I, the mildest form of the disorder, characterized by frequent fractures, but they tend to reduce as the person ages. Yet, the most severe form is Type II where the baby is born with multiple fractures affecting several bones, and survival rates are quite low.
Type III
Type III osteogenesis imperfecta also has quite severe symptoms. Babies with this form of OI have very fragile and soft bones that may start to fracture in early infancy or before birth. Some infants get rib fractures that may cause serious breathing problems. Bone abnormalities usually worsen over time and normally hinder walking.
Type IV
The most variable version of osteogenesis imperfecta is type IV OI. Symptoms of this version can be mild or severe. Around ¼ of infants with type IV OI have bone fractures at birth. Others might not get broken bones until adulthood or late childhood. All of these infants are born with bowed leg bones, but bowing normally eases as they grow older.
Other Symptoms
Some forms of OI are also linked to progressive hearing loss, teeth issues (dentinogenesis imperfecta), a grey or blue tint to the whites of the eyes (sclera), loose joints and abnormal spine curvature (scoliosis). Persons with osteogenesis imperfecta might have other bone deformities and are usually shorter than normal in terms of stature.
The symptoms of OI may seem like those of other health conditions. Be sure to see your doctor for proper diagnosis.
Osteogenesis Imperfecta in Adults
There’s no cure for OI, so the focus of treatment is to manage the symptoms of Osteogenesis Imperfecta in adults and improve your quality of life. Some of the most effective methods for managing OI in adults include the following:
- Exercise and physical therapy to improve strength, flexibility, and balance.
- Healthy eating habits to ensure that the bones get the proper nutrients they need to stay strong.
- Medications to help with pain management, build bone density, and prevent bone fractures
- Surgery to correct skeletal abnormalities
- Assistive devices such as crutches, braces and wheelchair to help you be more comfortable, mobile, and safe.
Causes of Osteogenesis Imperfecta
OI can be inherited from one parent with the condition, or occur due to a random mutation of genes. In most cases, the condition is handed down from parent to child via autosomal dominant inheritance. This means that osteogenesis imperfecta may be caused by just a single copy of the changed gene in each cell. This form of inheritance is normally the cause in most persons with type I or IV osteogenesis imperfecta.
The COL1A1 and COL1A2 genes can also mutate randomly. This may cause osteogenesis imperfecta in children with no family history of the condition. The children may either develop osteogenesis imperfecta type II or III, which are more severe.
Autosomal recessive inheritance is the least common method through which osteogenesis imperfecta occurs. This is when all cells have two copies of the altered gene. Autosomal recessive inheritance occurs when two persons carrying the mutated genes pass a copy each to their child. It usually leads to type III osteogenesis imperfecta.
Although rare, exposure to environmental factors such as radiation or toxins may also contribute to OI. Radiation therapy used to treat cancer and lead poisoning are some of the environmental exposures that may cause OI.
Osteogenesis Imperfecta Treatment
Osteogenesis imperfecta is incurable, but there are various ways to treat the symptoms. Many with this condition live productive and meaningful lives well into adulthood, despite the challenges. The aim of OI treatment is to reduce fractures, improve independent function and boost overall health.
Medical treatment for adults and kids with osteogenesis imperfecta involves a team drawn from various disciplines. This may include a doctor, orthopedists, geneticists, neurologists, endocrinologists, pulmonologists and rehabilitation specialists.
Osteogenesis imperfecta treatments can include physical therapy, fracture care, medication, surgical procedures, mobility aids and lifestyle changes.
Preventing Broken Bones
It’s important for people with OI to prevent bone fractures. They can reduce their risk by:
- Doing low-impact exercises (like swimming) to increase bone strength and boost mobility and muscle strength
- Avoiding activities that increase their risk for a collision or fall, or put excess strain on the bones
Growth Hormone
Children with Osteogenesis Imperfecta may have stunted growth, and growth hormone therapy can help to address this issue. Growth hormone therapy involves the administration of synthetic growth hormones that stimulate the body to produce more growth hormones. This can help children with Osteogenesis Imperfecta to reach a more normal height and improve bone density. Growth hormone therapy is not suitable for everyone and can cause side effects such as joint pain and swelling.
Physical Therapy and Exercise
Physical therapy aims to expand and maintain function, as well as promote independence. The average program includes aerobic conditioning and muscle strengthening.
Physical therapy usually starts during infancy to offset the delay in the development of motor skills many kids experience due to osteogenesis imperfecta-related muscle weakness. Infants may need adaptive devices.
Occupational therapy may help with the selection of adaptive devices for everyday living and improve fine motor skills. As a child with it gets older and becomes more independent, they’ll benefit from sustained physical activity, like adapted physical activity.
Safe, regular exercise can also benefit adults by maintaining muscle and bone mass. Water therapy and swimming are especially ideal for people of all ages with osteogenesis imperfecta, as they enable independent movement with a slight risk for fractures. Walking is also an excellent workout for those able to do it, whether with mobility aids or not.
Medication
One of the most common treatments for Osteogenesis Imperfecta is medications. Some medications can help increase the bone density, making the bones stronger and less susceptible to fractures. These drugs include bisphosphonates, calcitonin, and teriparatide. Bisphosphonates have been found effective in reducing the occurrence of fractures in patients with Osteogenesis Imperfecta.
Fracture Care
Casting, bracing and splinting may help heal broken bones properly. But long spells of immobility can weaken bones further and cause more fractures and muscle loss. Many orthopedists opt for short-term immobilization to treat fractures, using lightweight braces, splints or casts to allow for some movement immediately after the fracture.
Assistive Devices
Individuals with OI may need to use assistive devices such as braces, crutches, or wheelchairs to help them move around safely and comfortably. These devices can help to reduce the risk of fractures and improve mobility. However, assistive devices can be expensive, and they may not be covered by insurance.
Surgery
Surgery may be necessary for individuals with Osteogenesis Imperfecta who have severe bone deformities that affect their mobility or quality of life. Surgical procedures can help to correct bone deformities, improve mobility, and reduce the risk of fractures. However, surgery is not without risks, and there is a risk of complications such as infections and nerve damage.
Healthy Lifestyle
Persons with osteogenesis imperfecta benefit from healthy living that includes a nutritious diet and safe exercise. Adequate consumption of nutrients, including calcium and vitamin D, is essential for maintaining bone health. These nutrients should not be overdosed.
It’s important to maintain a healthy weight as extra weight increases stress on the skeleton, lungs and heart and decreases the ability to easily move. Moreover, people with it should avoid excessive caffeine or alcohol consumption, smoking or secondhand smoke — all of which weaken bone density.
Other treatments for osteogenesis imperfecta symptoms include:
- Crowns to support brittle teeth
- Hearing aids
- Mobility aids like walkers, crutches, wheelchairs and canes
- Supplemental oxygen for individuals with breathing issues
Gene Therapy
In recent years, gene therapy has emerged as a promising treatment option for Osteogenesis Imperfecta. Some researchers are exploring gene therapy techniques that can enhance the production of type I collagen, which is the main component of bones. This can help improve bone strength and reduce the occurrence of fractures.
Osteogenesis Imperfecta Life Expectancy
Osteogenesis imperfecta can vary in severity and is classified into four types. Type 1 is the mildest form. The type 4 is the most severe. Life expectancy can vary depending on the type and severity of OI. Most people with type 1 OI have a normal life expectancy, while those with type 2 and type 3 OI have a high mortality rate, often during infancy or early childhood. People with type 4 OI can live into their 40s or beyond, but they may still experience complications that can reduce their lifespan. These are just averages. Many factors can influence lifespan, including medical treatment and overall health.
Supplements for Osteogenesis Imperfecta
Getting enough vitamin D and calcium can help improve your bone mass and prevent bone loss. It improves the healing of your broken bones. Talk to your doctor regarding the following supplements for improving osteogenesis imperfecta-related symptoms.
Calcium
This essential mineral helps improve bone mass and stops thinning of bones. When a person experiences bone loss, it makes their bones more brittle, which is particularly risky for anyone with osteogenesis imperfecta.
A nutritionist or doctor can help you determine how much calcium your diet provides and whether you can just make dietary changes to get sufficient calcium instead of taking a supplement. Make sure not to exceed the recommended dose of calcium supplements, or it may lead to kidney stones.
Use the supplement 30 minutes prior to having a meal.
Vitamin D
This vitamin allows your body to use calcium to make bone as well as relieve pain and maintain immune system health. Our bodies produce vitamin D with the sunlight we soak in. Unfortunately, many people with OI have vitamin D deficiencies, which can exacerbate bone fragility. Taking a vitamin D supplement is one of the best ways to ensure that your body is getting enough of this critical nutrient. A nutritionist or doctor can run a blood test on you to check your vitamin D levels and tell you if you need a supplement.
The appropriate dosage is about 50mg a day.
Vitamin C
Vitamin C helps the body recover from fractures and build connective tissue. It’s in fruits like strawberries, cantaloupe and citrus fruits, and vegetables like sweet potatoes, bell peppers and tomatoes. It’s generally recommended that you take around 1,000 mg of vitamin C powder per day.
Vitamin K
Vitamin K is a nutrient that is important for bone health, as it helps the body to utilize calcium more effectively. Some studies have suggested that taking a vitamin K supplement can help to improve bone density and reduce the risk of fractures in people with OI. The recommended daily dose of vitamin K for adults is between 90 and 120 mcg.
Collagen
Collagen is a protein found in bones, cartilage, and connective tissues. Supplementing with collagen can help improve bone strength and reduce pain. It is available as pills or powders, perfect for adding to your morning smoothie.
The Bottom Line
Osteogenesis imperfecta (OI) is a genetic disorder in which bones break easily. Sometimes the bones break for no known reason. It can also cause weak muscles, brittle teeth, a curved spine and hearing loss.
OI develops into a genetic mutation in the gene directing the body to produce collagen. It can either be passed down by a parent who has the disease. It can occur as a spontaneous gene mutation in a child.
There are different forms of osteogenesis and symptoms can be mild or severe. Symptoms often vary. All people with OI have weaker bones. Common symptoms of this condition include short stature, breathing problems, triangular face, brittle teeth, hearing loss and deformed bones (scoliosis or bowed legs).
Treatment for OI aims to manage symptoms, prevent complications, develop muscle strength and bone mass and preserve independent movement. This is achieved by fracture care, physical therapy, dental care and surgery. Sometimes braces, wheelchairs, and other assistive devices are used.
Supplements can be a valuable addition to your OI treatment plan. While they are not a substitute for medical treatment or a healthy diet, they can help to boost your bone health and reduce the risk of fractures. It’s essential to talk to your healthcare provider to ensure that it is safe and appropriate for you. With the right combination of supplements, you can support your bone health and live a more active, vibrant life.
These statements have not been evaluated by the Food and Drug Administration. These products are not intended to diagnose, treat, cure or prevent any disease
