Updated: 2018, May 21

Osteogenesis Imperfecta – Types, Causes and Treatments

Osteogenesis Imperfecta

What is Osteogenesis Imperfecta?

Osteogenesis Imperfecta also was known as Lobstein’s syndrome is a disorder that makes the bones weak and fractures easily. People who have osteogenesis imperfecta have Type-I collagen deficiency causing them to have a defective connective tissue or sometimes not able to make the connective tissues.

How Common is Osteogenesis Imperfecta?

Facts Bone Density Info

In the world, around 6 to 7 out of 100,000 people are affected. Type I and Type IV are the common type of osteoporosis Imperfecta and affect 4 to 5 out of 100,000 people in the world.

In America, about 20,000 to 50,000 people have the disorder.

What Genes are Related to Osteogenesis Imperfecta?

Genes that are responsible for osteogenesis Imperfecta include:

  • COLIA1
  • COLIA2
  • CRTAP
  • LEPRE1

COLIA1 and COLIA2 genes are involved in more than 90% of the cases of osteogenesis imperfecta while CRTAP and LEPRE1 genes are responsible for the rare types of Osteogenesis Imperfecta.

There are some types of osteogenesis that have no types of genes identified with them.

How do People Inherit Osteogenesis?

Most people with type I and type IV osteogenesis imperfecta inherited it from their parents who have the autosomal dominant disorder.

Some people will inherit the disorder from parents who have the autosomal recessive disorder.

What are the Types of Osteogenesis Imperfecta?

Types of Osteogenesis Imperfecta

There are about 8 types of osteogenesis Imperfecta. The most common types include:

1. Type I:

It characteristics include:

  • Less amount of collagen.
  • Few bone deformities.
  • Weak muscles.
  • Bone fractures.
  • Grey-purple eyes (eyes).
  • Hearing problems which begin in early 20s to 30s.
  • Brittle teeth.
  • Spinal curvature tendencies.

2. Osteogenesis Imperfecta Type II

This is the most severe type of osteogenesis Imperfecta. Its characteristics include:

  • Deformed collagen.
  • It’s chronic at birth or shortly after birth because of respiratory failures.
  • Underdeveloped lungs.
  • Severe bone fractures.
  • Discoloured sclera.

3. Type III

The characteristics of this type of Osteogenesis Imperfecta include:

  • Deformed collagen.
  • Kyphosis (spinal curvature).
  • Discoloured sclera( blue, purple, grey).
  • Triangular-shaped faced.
  • Severe bone deformation.
  • Hearing problems.
  • Poor muscle tone in arms and legs.
  • Possible respiratory problems.
  • Kyphosis.

4. Type IV

The characteristics include:

  • Its severity is between Type I and type II.
  • Affected people have short stature.
  • Triangular-shaped face.
  • Deformed collagen.
  • Severe bone fractures. This occurs mostly at puberty.
  • Spinal curvature tendencies.
  • Little sclera discoloration.
  • Brittle teeth.

Other types of osteogenesis imperfecta are Type V and Type VI which the gene causing them have not been identified, and the recessive forms of osteogenesis imperfecta which are type VII and type VIII.

What Causes Osteogenesis Imperfecta?

Osteogenesis Imperfecta is caused by genes that don’t function properly. These genes can be passed from the parents while in some cases the genes start working abnormally.

Osteogenesis is usually caused by poor quality of type I collagen or lack of enough type I collagen in the body as a result of genes abnormalities.

What are the Symptoms of Osteogenesis Imperfecta?

Symptoms of Osteogenesis Imperfecta

The symptoms of osteogenesis Imperfecta range from mild to severe depending with the type.

The most common symptoms include:

  • Deformed bones.
  • Triangular face.
  • Curved spine.
  • Weak muscles.
  • Discoloured sclera.
  • Hearing problems.
  • Respiratory problems.
  • Small body.
  • Loose joint.
  • Brittle teeth.
  • Little or poor quality of collagen.

How is Osteogenesis Imperfecta Diagnosed?

Osteogenesis Imperfecta cannot be diagnosed by a single test. Healthcare providers can diagnose osteogenesis Imperfecta by performing several procedures. These include:

  • Checking family history of the disorder.
  • Performing collagen and molecular test (DNA) which takes some time before the results are out.
  • Checking medical history of the patient.
  • Checking X-ray and results physical examination.

How is Osteogenesis Imperfecta Treated?

Osteogenesis Imperfecta Treated

Osteogenesis Imperfecta has no cure. The treatment of the disorder is directed towards the symptoms.
If you have osteogenesis Imperfecta you can do the following to prevent bone fractures:

  • Involved in exercises such as swimming, running, weight-lifting, and jogging.
  • Avoiding excessive alcohol consumption and smoking.
  • Having a balanced diet.
  • Avoiding excessive consumption of caffeine.
  • Avoiding taking steroids.
  • Ensuring a normal body weight.

Patients can also undergo a surgery called ‘rodding’ where a metal rod is put in the long bones to prevent the bone fractures, fix bone deformation, and strengthen the bone.

People who have osteoporosis Imperfecta can use wheelchairs for mobility help and orthodontic braces for teeth.

Conclusion

The National Human Genome Research Institute (NHGRI) researchers are currently developing advanced methods for studying mechanisms of inherited and acquired genetic disorders. This will help them discover the molecular basis of human genetic diseases and create technologies that will help in genetic research.

NHGRI researchers are also studying families with a history of Osteogenesis Imperfecta. The studies will help them to come up with gene-based diagnostic tests that are reliable and effective.

Author

Melissa Feldman

Melissa Feldman is an independent research writer living in Toronto, Canada. She has professional experience as a researcher, and educa

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