By Katherine Brind’Amour, PhD
Osteogenesis imperfecta is a genetic condition that causes the bones to break easily. It is also known as “brittle bone disease.” The condition can range from mild to severe. It is fairly rare and thankfully people with this condition heal normally. The disease may affect as many as 50,000 people in the United States. (1)
There is no cure for the disease, but people can help prevent broken bones and promote their healing with conventional and natural therapies.
What Is Osteogenesis Imperfecta?
Osteogenesis imperfecta translates to “imperfectly formed bones.” It is a genetic condition that causes the bones to be brittle or fragile. In most cases, the condition is mild, and people may only experience a few bone fractures in their entire lives. In others, the condition is severe, and people can suffer from hundreds of breaks in a lifetime. (2)
While osteogenesis imperfecta inheritance depends on one or both parents passing a defective gene onto their child, the condition can also happen spontaneously. That means that a mutation in the osteogenesis imperfecta gene can happen by accident, so that someone can have the disease even if neither of the parents passed down a defective gene. It is equally common in males and females and all racial or ethnic groups. It affects about six or seven in every 100,000 people. (1)
The condition happens when the mutated gene does not tell the body to make enough (or good enough) type I collagen. Type I collagen is a protein that helps build connective tissue, like the tissue in bones, ligaments, teeth and the whites of the eyes. (2)
Osteogenesis imperfecta life expectancy is normal or close to normal. (3) However, this is not the case for people with Type 2 (see below), which can be deadly before or shortly after birth.
Main types of osteogenesis imperfecta
There are four main types or categories of osteogenesis imperfecta, but the disease does not get worse from Type 1 to Type 4. There are other types now identified that fall somewhere in between the four most common categories in terms of symptoms and severity. According to the National Institutes of Health, there are eight types total. Type 1 is mild, Types 4, 5 and 6 are moderate, and Types 2, 3, 7 and 8 are severe. (4)
Osteogenesis imperfecta Type 1
Type 1 or Type I is the mildest form of the disease and is also the most common. (2) In this form, collagen has a normal structure but there is not enough of it made. Bones are still brittle and break easily, but they look normal (they aren’t deformed). Some people with Type 1 have trouble with their teeth as well, with lots of cavities or cracking. They may also have purple, gray or blue sclerae (the white part of the eyeball).
Osteogenesis imperfecta Type 2
Type 2 or Type II is the most severe form of osteogenesis imperfecta and is often deadly during infancy. (2) Many babies may even break bones in the womb. This type of the disease happens when collagen isn’t made correctly; it doesn’t form the right structure to keep bones and other connective tissue together.
Osteogenesis imperfecta Type 3
Type 3 or Type III osteogenesis imperfecta causes severe bone deformities. Fractures are very common and many babies are born with bones already broken. This type of disease can also cause discolored sclerae, short height, spine deformities like scoliosis, problems with breathing, and teeth that break easily. (2) It is caused by collagen that doesn’t come together correctly. This form of the disease gets worse over time. As the child grows, hearing loss and deformities usually become severe and may restrict motion. (1)
Osteogenesis imperfecta Type 4
Type 4 or Type IV also has improperly formed collagen that leads to brittle bones. However, it is considered moderately severe, since bone deformities may be milder and since the sclera aren’t discolored. (2) People with osteogenesis Type IV may also be shorter than average and have teeth that break easily.
Signs & Symptoms
Symptoms of osteogenesis imperfecta include: (4,5)
- Deformed or misshapen bones
- Frequent bone fractures or bones that break easily
- Short height
- Weak muscles
- Loose joints
- Brittle teeth
- Blue, purple or gray sclerae
- Rib cage shaped like a barrel
- Triangular face shape
- Curved spine
- Trouble hearing, often starting in the 20s or 30s
The infamous osteogenesis imperfecta blue sclerae are often the first sign of the disease in babies who do not have other bone deformities. However, an osteogenesis imperfecta diagnosis requires a series of tests, such as blood or skin tests, X-rays and other imaging, a family and medical history, and a physical exam. (4)
Causes & Risk Factors
Causes of osteogenesis imperfecta are genetic. It is either inherited (one or both parents pass a defective gene to the child) or spontaneous (it happens randomly). In either case, it results in problems making collagen, which holds bone and other tissue together.
The only real known risk factor for osteogenesis imperfecta is having a family member with the disease or having a gene for the disease. If you have osteogenesis imperfecta, each child of yours has a 50 percent chance of also having the condition. As many as 35 percent of people with the condition have no family history, however. (1)
This group of bone diseases was historically managed with surgeries to correct bone deformities. Now that brittle bone disease is better understood, and research has found drugs to help improve bone health and other symptoms, surgery is saved for cases where it may improve the ability to move or function. Conventional treatment often includes: (6)
- Use of wheelchairs, walking aids and mobility devices
- Orthotics (such as braces) to support loose joints and prevent fractures or new deformities
- Bisphosphonates, such as pamidronate, to help improve bone density and prevent breaks. It may also decrease pain and increase height and energy levels.
- Pain relievers for broken bones or for people with pain caused by deformity or motion limitations
- Surgery that places rods, pins and wires to keep bones stable and prevent deformities and breaks
Most people with osteogenesis imperfecta are also given dietary and exercise guidance to help bones grow, to prevent fractures and to promote overall health. (6)
Osteogenesis Imperfecta: 7 Natural Ways to Manage Symptoms
For anything other than very mild cases, people with osteogenesis imperfecta need to be managed by medical professionals to effectively treat the condition and prevent as many complications as possible. However, there are many natural ways people can manage aspects of osteogenesis imperfecta, including:
- Work with a dietitian
- Eat foods and take supplements for bone health
- Do physical and occupational therapy
- Use assistive devices
- Manage pain naturally
- Learn first aid for broken bones
- Speed bone healing
Work with a dietitian
Dietary management is critical in people with osteogenesis imperfecta. It essential to make sure you take in the right amount of nutrients that help in bone growth and healing. In addition, many people with severe disease have trouble eating solid foods or may have poor appetite or unique calorie needs because of their size, deformities, or physical activity levels. People with osteogenesis imperfecta may be more prone to constipation, trouble eating solids, failure to thrive, malnutrition, obesity and other weight control issues. (7)
- You should meet with a dietitian who is familiar with the specific needs of someone with osteogenesis imperfecta (6); insurance usually covers this and regular visits may be needed, especially in infancy, childhood and adolescence.
- You can expect to talk with the nutritionist about your activity level, dietary preferences, dental health and symptoms, appetite and gastrointestinal health. (7)
- The dietitian will likely work with you to: (7)
- Identify the right portion sizes and total number of calories you should be eating each day
- Find out if you have any nutrient deficiencies (for example, calcium and vitamin D)
- Develop an individual diet plan for you
- Fix problems like constipation with a high-fiber diet
- Help introduce solid foods for children who have been on milk and pureed foods for a long time due to trouble swallowing
- Make referrals to other health professionals, for example to find out if you have specific problems swallowing or with reflux, growth, weight management, or malnutrition
Eat or take supplements to support bone health
Supplements will not cure osteogenesis imperfecta, since bone problems come from the genes and not from a nutrient deficiency. However, getting enough calcium and vitamin D in your diet or via supplements can help you develop better bone mass and stop bone loss. (7) It may also help your body heal broken bones better. Ask your doctor about these supplements:
- Calcium. This important mineral helps bones develop mass and stops bones from thinning. When bone loss happens in anyone, it makes bones more fragile, which is especially risky for someone with osteogenesis imperfecta. (7)
- Depending on your age, gender, weight and activity level, you may need a total of 500–1,200 milligrams per day of calcium. (7) A physician or nutritionist can help you figure out how much you get in your diet and whether you can simply make dietary adjustments to get enough calcium, rather than taking a supplement.
- Foods and drinks rich in calcium include:
- Yogurt or kefir
- Bok Choy
- Vitamin D. This vitamin helps your body use the calcium you take in to make bone, and may also play a role in your immune system health and pain levels. Our bodies make vitamin D when we absorb sunlight through our skin. A doctor or nutritionist can take a blood test to check your levels and let you know if you require a supplement.
- Doses are based on weight for people with osteogenesis imperfecta. Daily recommendations start at 600–800 IU per day for people around 50 pounds and go up to 2,000–2,800 IU per day for people 150 pounds and above. (7)
- Top dietary sources of vitamin D include:
- Fish, such as halibut, carp fish, mackerel, salmon, whitefish, swordfish, rainbow trout, sardines and tuna
- Maitake or Portabella mushrooms
- Cod liver oil
- Vitamin C. This vitamin helps your body build connective tissue and recover from fractures. (7)
- It can be found in fruits such as citrus, strawberries and cantaloupe and vegetables such as tomato, bell peppers and sweet potatoes.
- You may not need a supplement unless your doctor says you are deficient. Many people get enough vitamin C through their diet, and supplements can have negative impacts for some people with osteogenesis imperfecta. This is because they can raise the risk of kidney stones in people who lose a lot of calcium in their urine, which affects some people with osteogenesis imperfecta. (7)
Do physical and occupational therapy
Comprehensive physical and occupational therapy programs can help improve mobility and develop muscle strength. (6)
- Work with a rehabilitation specialist who is familiar with osteogenesis imperfecta
- You can expect the following types of physical therapy exercises, depending on age and physical abilities: (6)
- Swimming and pool aerobics or weight exercises
- Walking, pushing a walker, or self-wheeling a wheelchair
- Strength training
- Occupational therapy will aim to increase people’s independence and motor skills. They may need it as they age and start school or work. Or it may be needed as a deformity worsens or when healing from fractures. Occupational therapists can help with activities such as: (8)
- Getting in and out of bed or a wheelchair (transferring)
- Lifting things safely
- Moving around with a new cast or assistive device
- Bathing and self-grooming
- Preparing food
Use assistive devices
Many people with moderate or severe osteogenesis imperfecta can achieve some independence in getting around the house or other places. By using tools to help them adapt to physical limitations, people can often function to their fullest extent. (8) This is a fairly new concept for people with severe osteogenesis imperfecta who for many years were not expected or encouraged to learn to self-care by health care providers.
- Adaptive or assistive devices may include: (8)
- Walkers, crutches or canes
- Pillows and positioning
- Seat elevators
- Custom car pillows and pedals
- Step stools
- Ramps and railings or grab bars
- Hearing aids
- Blenders or feeding tubes
Manage pain naturally
According to the Osteogenesis Imperfecta Foundation, the acute and chronic pain caused by broken bones, deformity and other symptoms of the disease may be eased by a number of physical or nonmedical approaches. These include: (7)
- Heat packs and warm showers to ease stiff muscles and chronic pain
- Ice packs to numb pain and reduce swelling
- Transcutaneous Electrical Nerve Stimulation (TENS) to block pain signals and control swelling using electrical currents
- Exercise under the guidance of a physical therapist or physician specialized in osteogenesis imperfecta; low-impact exercise can relieve pain, improve strength, and improve mobility and posture
- Acupuncture and acupressure to relieve pain
- Gentle massage for sore muscles and pain spots
The OI Foundation also suggests attacking acute and chronic pain via your brain, which is called psychological pain management. (7) Methods they recommend include:
- Formal relaxation training, involving slow deep breathing to relieve tension and pain
- Biofeedback, first practiced with a biofeedback professional and then independently
- Visualization or distraction techniques to help focus on things that distract you from the sensation of pain
- Hypnosis to reduce your perception of pain
- Psychotherapy to cope with depression, frustration and other emotions that stem from chronic pain and disease
Learn first aid for broken bones
If someone you love has osteogenesis imperfecta (or if you have it!), it’s important to learn first aid for a broken or fractured bone: (9)
- Stop any bleeding
- Keep the broken bone from moving by using a splint or sling, or by having them lie still
- Put on an ice pack wrapped in a cloth for 10 minutes at a time
- Call 911 or take them to an emergency department
- Help them stay calm by saying reassuring things and helping them stay warm and comfortable
Speed bone healing
Since broken bones are common for many people with osteogenesis imperfecta, it is natural to want ways to help your bones heal as quickly as possible. You can do this by following Dr. Axe’s simple dietary and self-care tips to help bones heal:
- Eat a diet rich in calcium and vitamin C, taking into account the recommendations from your nutritionist (see tips 1 and 2)
- Ask if it is safe for you to up your intake of vitamin K. Both vitamins K1 and K2 help your blood clot and aid in the formation of new bone. Eat foods such as kale, spinach and other leafy greens, broccoli, dairy and kefir to get plenty of dietary vitamin K.
- Consider increasing your intake of zinc, which helps set the things in motion for new bone to be built. Zinc is found in beef, spinach and pumpkin seeds.
- Up your omega-3 fatty acid intake. Healthy fats can give your body some help in healing injuries and reducing inflammation.
- Avoid foods and drinks that weaken your bones. This includes alcohol, salt, sugar, refined grains, soda and sugar-sweetened drinks, and caffeine. These can cause bone loss and result in slower healing.
- Explore Dr. Axe’s other tips for natural bone healing. However, be sure to discuss the strategies with the doctor who treats your osteogenesis imperfecta before you make dietary changes or try other ideas, such as vibration therapy. Not every therapy may be appropriate for people with osteogenesis imperfecta.
- Broken bones require treatment from a health care professional. Do not attempt to set broken bones at home.
- Herbs and supplements can interact with common osteogenesis imperfecta medications. Before adding or removing a drug, herb, or supplement from your overall routine, discuss the change with a pharmacist or health care professional.
- Do not overload your diet with foods and drinks high in calcium and vitamin D unless you are told to do so by a dietitian who is familiar with your condition and your medications.
- Learn how to safely handle an infant, child, or adult with osteogenesis imperfecta before attempting to help them move. (8) This can help prevent broken bones, pain and other problems.
- If you believe someone has broken a bone in their back, neck, or head, or if a bone has cut through the skin, immediately call 911 for emergency care.
Osteogenesis Imperfecta Key Points
- Osteogenesis imperfecta is a genetic condition, also called brittle bone disease, which results in bones that break easily. There is no cure.
- Conventional treatment includes drugs to aid bone growth and relieve pain, and supportive therapies such as braces, surgery, and household accommodation to increase mobility.
- Overall, the osteogenesis imperfecta prognosis is good for people with mild forms of the disease, who may not even know they have the condition or who may only have a few fractures throughout their lives.
- Even for people with moderately severe forms of the disease, life expectancy is near normal despite the problems caused by broken bones and deformities. People with very serious forms of the condition may die in the womb or in infancy.
Natural ways to manage osteogenesis imperfecta symptoms include:
- Work with a dietitian
- Eat and take supplements for bone health
- Do physical and occupational therapy
- Use assistive devices
- Manage pain naturally
- Learn first aid for broken bones
- Speed bone healing
Read Next: 6 Natural Remedies for Bone and Joint Pain
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