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What is Osteogenesis Imperfecta

What is Osteogenesis Imperfecta?

Osteogenesis imperfecta (OI) is a genetic disorder characterized by fragile bones that break easily. It is also known as “brittle bone disease.” A person is born with this disorder and is affected throughout his or her life time.

What causes OI

OI is caused by an error called a mutation on a gene that affects the body’s production of the collagen found in bones, and other tissues. It is not caused by too little calcium or poor nutrition.

Genetics

* The majority of cases are caused by a dominant mutation to type 1 collagen (COL1A1 or COL1A2) genes
* Other types are caused by mutations of the cartilage-associated protein (CRTAP) gene or the LEPRE1 gene. This type of mutation is inherited in a recessive manner.
* OI occurs with equal frequency among males and females and among all racial and ethnic groups.
* Approximately 35% of children with OI are born into a family with no family history of OI. Most often this is due to a new mutation to a gene and not by anything the parents did before or during pregnancy

What are the types of OI

OI is variable with 8 different types described in medical literature.The types range in severity from a lethal form to a milder form with few visible symptoms. The specific medical problems a person will encounter will depend on the degree of severity.A person with mild OI may experience a few fractures while those with the severe forms may have hundreds in a lifetime.

How does one diagnose OI?

Diagnosis for OI is primarily based on signs seen in a doctor’s examination. When there is uncertainty about the diagnosis, it is best to consult a physician who is familiar with OI. Genetic testing is available to confirm a diagnosis of OI through collagen or gene analysis—a skin sample or a blood sample are used to study the amount of Type I collagen or to do a DNA analysis.

What are the Health issues frequently seen in children and adults with  OI ?

  • Short stature
  • Weak tissues, fragile skin, muscle weakness, and loose joints
  • Bleeding, easy bruising, frequent nosebleeds and in a small number of people heavy bleeding from injuries
  • Hearing loss may begin in childhood and affects approximately 50% of adults
  • Breathing problems, higher incidence of asthma plus risk for other lung problems
  • Curvature of the spine

Types of OI

What is the treatment for osteogenesis imperfecta

The team:

Doctors who see children and adults with OI include primary care physicians, orthopedists, endocrinologists, geneticists and physiatrists (rehabilitation specialists). Other specialists such as a neurologist may be needed.

The goals:

  • At this time, there is no cure.
  • Treatments focuses on minimizing fractures,  maximizing mobility, maximizing independent function and general health
  • Treatments include
    • Physical therapy and safe exercise including swimming
    • Casts, splints or wraps for broken bones
    • Braces to support legs, ankles, knees and wrists as needed
    • Orthopedic surgery, often including implanting rods to support the long bones in arms or legs
    • Medications to strengthen bones
    • Mobility aids such as canes, walkers, or wheelchairs and other equipment or aids for independence may be needed to compensate for weakness or short stature.
  • Treatment to improve bone strength
  • Medications
  • Bisphosphonates (pamidronate/ alendronate/zoledronic acid)
  • Growth Hormone
  • Increased vitamin D intake
  • Physical activity
  • Potential for gene therapy

What is the prognosis for children and adult with OI?

The prognosis for a person with OI varies greatly depending on the number and severity of symptoms.

  • Life expectancy is not affected in people with mild or moderate symptoms.
  • Life expectancy may be shortened for those with more severe symptoms.
  • The most severe forms result in death at birth or during infancy.

Respiratory failure is the most frequent cause of death for people with OI, followed by accidental trauma.Despite the challenges of managing OI, most adults and children who have OI lead productive and successful lives. They attend school, develop friendships and other relationships, have careers, raise families, participate in sports and other recreational activities and are active members of their communities.

Managing OI

  • Techniques for safe handling, protective positioning and safe movement are taught to parents
  • Infancy, early childhood and the pre-teen years are often challenging
  • Growth and hormonal changes can affect the frequency of fractures
  • Children and youth learn which activities to avoid and how to practice energy conservation
  • The number of fractures usually decreases in adulthood
  • Following a healthy lifestyle including not smoking, and maintaining a healthy weight is beneficial

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