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How common is Osteogenesis Imperfecta?
This condition affects an estimated 6 to 7 per 100,000 people worldwide. Types I and IV are the most common forms of Osteogenesis Imperfecta, affecting 4 to 5 per 100,000 people.
How do people inherit Osteogenesis Imperfecta?
Most cases of Osteogenesis Imperfecta have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. Many people with type I or type IV Osteogenesis Imperfecta inherit a mutation from a parent who has the disorder. Most infants with more severe forms of Osteogenesis Imperfecta (such as type II and type III) have no history of the condition in their family. In these infants, the condition is caused by new (sporadic) mutations in the COL1A1 or COL1A2 gene.
Less commonly, Osteogenesis Imperfecta has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means two copies of the gene in each cell are altered. The parents of a child with an autosomal recessive disorder typically are not affected, but each carry one copy of the altered gene. Some cases of Osteogenesis Imperfecta type III are autosomal recessive; these cases usually result from mutations in genes other than COL1A1 and COL1A2. When Osteogenesis Imperfecta is caused by mutations in the CRTAP or LEPRE1 gene, the condition also has an autosomal recessive pattern of inheritance.
What other names do people use for Osteogenesis Imperfecta?
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- Brittle bone disease
- Fragilitas ossium
- OI
- Vrolik disease
What to do When a Bone Breaks
- Stay calm, especially when a child has a fracture.
- Do a quick assessment – check if the person is conscious, breathing and trying to move. If there is any danger of a neck or back injury or any doubt about the person's condition, immediately call 911.
- Do a thorough assessment - determine how the accident happened and where It hurts. Gently touch the arms and legs down the length of each, one at a time.
- Move the broken bone only if necessary and as gently as possible.
- Treat the pain. Elevate the broken limb on a pillow if possible and apply an ice bag (or bag of frozen vegetables wrapped in a dish towel).
- Contact the orthopedic surgeon or primary care physician and determine whether an ambulance is needed or if the injured person can be transported by private car.
- Decide whether to go to the doctor's office or the Emergency Room. Call ahead before leaving for the doctor's office. Know if your health plan requires notification before an Emergency Room visit.
- Determine whether a trained parent or friend can temporarily immobilize the injured body part. A splint often makes transport more comfortable. Splint the bone in the position in which it is found; never try to straighten the bone.
- Avoid angry words or saying things you will regret later. When OI is involved, breaks occur even when everyone does everything right.
Can a parent tell if the bone is really broken?
Sometimes there is no external sign of injury, but people who live with OI - affected adults, teens, older children and parents of children with OI—know the difference between a minor injury and a fracture. They look for certain clues to help determine how serious the injury might be:
- Changes in the size or shape of the injured body part.
- Location, duration and intensity of pain.
- Reactions to moving the injured area.
- Infants may stop moving the injured body part or cry every time the injured part is moved.
- Parents may learn to detect a change in how their child cries when a fracture occurs.
Will every bump cause a broken bone?
Fractures are unpredictable. Sometimes a serious fall or accident will not cause a fracture, but other times a bone will break during normal daily activities.
What should be done if the break does not show up on the x-ray?
Because of the nature of OI bone, sometimes the fracture does not show up on the first x-ray. If the area is painful and the person who has OI thinks there is a fracture, then the area should be immobilized with a splint and wrap and otherwise treated as if there is a fracture. If pain continues, the bone should be x-rayed again in a week. If pain goes away, the splint can be removed. Subsequent x-rays sometimes reveal call us formation that is a sign of a healing fracture.
What can parents and adults who have OI do to prepare for the next broken bone?
- Take a first aid class.
- Get training from your orthopedic surgeon on how to safely splint a broken bone.
- Prepare a "Home Fracture Kit."
What is a Home Fracture Kit?
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This kit contains necessary items in an easily moved container such as a small tool box or fishing tackle box. Keep it in an easy to find place in the home. It's a good idea to also have one in the car or at daycare or school. Talk with your orthopedic surgeon about the best items for your personal kit.
Content scan include:
- General first aid supplies: sterile gauze, antiseptic ointment, small bandages, tape, alcohol pads.
- Stiff items for making splints: popsicle sticks, rulers, or cardboard.
- Something to tie the stiff item to the limb: elastic bandages, neckties, long socks, gauze.
- Something to make a sling: pillowcase, cutup table cloths, large safety pins.
- Other helpful items: egg-crate style foam piece, washcloth, phone numbers
What other emergency plans should everyone have in place?
- Keep a list of important phone numbers on hand or programmed into your cell phone. These should include doctors, ambulance, hospital, family, insurance company and anyone who can help in an emergency.
- Plan ahead for child care for your other children.
- Talk with your orthopedic surgeon about what to do if the fracture occurs during office hours, at night, on weekends or on a holiday.
- Setup a plan with your child's school for how to handle a suspected broken bone and review the plan every semester.
- College students need a plan for what to do if a fracture happens away from home. They should meet the college health center orthopedic surgeon before there is an emergency.
- Adults need a plan for what to do if they fracture in the work place, including arranging transportation and notifying family members.
- Consider visiting your local fire and rescue station to inform them about OI and possibly leaving a diagram of your house to show where the person with OI sleeps.
Can a person with a new fracture travel by air?
Doctors advise delaying air travel until the swelling has gone down. Depending on the severity of the fracture, this can take a week or more. Altitude causes swelling and aggravates inflammation. This additional swelling can make a wrap or cast dangerously tight and extremely painful. When air travel is absolutely necessary, applying ice to the area around the break prior to take off and throughout the flight will reduce pain.
What if rodding surgery is needed and the hospital is far away?
Contact your usual orthopedic surgeon as soon as possible after the fracture to plan the best course of action. Variables to consider include how long the person will be immobilized, pain control and the best hospital for the surgery. If on vacation or several hours drive from physicians who are familiar with OI, the nearest ER can stabilize the fracture with a splint or cast and prescribe pain medication. The patient can then be transported to the hospital of choice. Most physicians will understand that the patient prefers to have surgery performed by a surgeon who is familiar with the patient and his/her condition.
Each situation is unique and open communication is vital.
When planning ahead for rodding surgery, work with the surgeon to create an action plan in case a fracture occurs before the scheduled operation.
Are there any special recommendations for treating fractures in people with OI?
Until a broken bone is stabilized, any movement will cause pain and in some cases muscle spasms, which cause more pain. Immobilizing the broken bone can relieve pain and encourage healing. Orthopedic surgeons who are experienced in the care of people with OI recommend using the lightest weight materials possible for the shortest period of time possible. Plaster casts, when used, need to be handled carefully. They are heavy and may cause another bone break above or below the cast.
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