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Vrolik's Disease

Osteogenesis Imperfecta

Brittle Bone Disease

How Did This Happen?

Osteogenesis Imperfecta is hereditary and is caused by a defect in the gene that produces collagen type 1, which is an essential building block of bone. There are many different defects that can affect this gene. The severity of OI depends on the specific gene defect. OI is an autosomal dominant disease. That means if you have one copy of the gene, you will have the disease. Most cases of OI are inherited from a parent, although some cases are the result of new genetic mutations. A person with OI has a 50% chance of passing on the gene and the disease to their children.

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What is Osteogenesis Imperfecta?

Can It Be Cured?

There Are Different Types

Osteogenesis Imperfecta (OI) is a hereditary disorder in the connective tissue that weakens bones, causing them to break easily. OI is a lethal form of “brittle bone disease” and varies from Type I to IV based on severity.

  • Type I OI is the moderate form of Vrolik's disease, people who have Type I suffer bone fractures during childhood and adolescence, but lessens once they reach adulthood.
  • Type II OI is the most severe form. Infants with Type II have bones that appear bent or crumpled and fractured in the womb. Those infants are more likely to perish before or after birth due to breathing failure from underdeveloped lungs.
  • Type III OI has relatively severe symptoms. Infants with OI Type III have very soft and fragile bones that fracture before or during early infancy. Some infants have rib fractures that can cause life-threatening problems with breathing, and bone abnormalities can affect walking in later life.
  • Type IV OI is the most variable of OI. Symptoms of OI Type IV can range from mild to severe. About twenty-five percent of infants with OI Type IV are born with bone fractures. Infants with OI Type IV have leg bones that are bowed at birth, but bowing usually lessens as they get older.

Because OI is a genetic condition, it has no cure. However, specific therapies can reduce the pain and complications associated with OI. Bisphosphonates are drugs that have been used to treat osteoporosis which can increase the strength and density of the bone, and also have been shown to greatly reduce bone pain and fracture rate. Low impact exercises, such as swimming, keep muscles strong and help maintain strong bones. In more severe cases, surgery to place metal rods into the long bones of the legs may be considered to strengthen the bone and reduce the risk of fracture. Bracing can also be helpful for some people. Reconstructive surgery may be needed to correct any deformities.

Bones Involved

Any bone in the body can be affected, but long bones such as the tibia, fibula, femur, metatarsals, phalanges, humerus, ribs, etc. It's also common for the limbs to occasionally pop out of their sockets.

Sources

Why This Topic Is Important

https://www.nlm.nih.gov/medlineplus/ency/article/001573.htm

https://www.genome.gov/25521839

http://www.nytimes.com/health/guides/disease/osteogenesis-imperfecta/overview.html

https://www.google.com/search?q=osteogenesis+imperfecta&espv=2&biw=1366&bih=623&site=webhp&source=lnms&tbm=isch&sa=X&ved=0CAYQ_AUoAWoVChMIzZD1_biqyAIVAe6ACh0DaAJa

It's important to know what "Brittle Bones Disease" is because it informs people the essential building blocks to strong bones in order to lead healthy lives.

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