Osteogenesis imperfecta


Know the basics

What is osteogenesis imperfecta?

Osteogenesis imperfecta (OI), also called “brittle bone disease”, is a genetic disorder related to the structure of bones. One suffers from this disease might have easily breakable bones, often from little or no apparent trauma. In addition to broken bones, people with OI sometimes have muscle weakness or joint laxity (loose joints), and they often have skeletal malformations including short stature, scoliosis (curvature of the spine), and bowing of long bones. There are 4 well-known types of osteogenesis imperfecta, characterized by fracture frequency and severity features.

  • Type I OI is the mildest and the most common form of the condition. People who have type I OI have bone fractures during childhood and adolescence often due to minor trauma.
  • Type II OI is the most severe form of OI. Infants often die in the first year of life.
  • Type III OI also has relatively severe signs and symptoms. Infants with OI type III have very soft and fragile bones that may begin to fracture before birth or in early infancy.
  • Type IV OI is similar to type I. People often needs a help form braces or crutches to walk. Life expectancy is normal or near normal.

Some types of OI are also associated with progressive hearing loss, a blue or grey tint to the part of the eye that is usually white (the sclera), teeth problems (dentinogenesis imperfecta), abnormal curvature of the spine (scoliosis), and loose joints. People with this condition may have other bone abnormalities and are often shorter in stature than average.

How common is osteogenesis imperfecta?

It equally affects males and females. Also, it occurs in racial and ethnic groups. It can be managed by reducing your risk factors. Please discuss with your doctor for further information.

Know the symptoms

What are the symptoms of osteogenesis imperfecta?

The common symptoms of osteogenesis imperfecta are weak and fragile bones, deafness, blue sclera, weak and discolored teeth, muscle weakness, loose joints and skeletal malformations.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

Severe forms are most often diagnosed early in life, but mild cases may not be noted until later in life. If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Know the causes

What causes osteogenesis imperfecta?

OI is an inherited disease which means you have a 50% chance to receive the gene and the disease from your parents. However, some cases are the result of new genetic mutations.

Know the risk factors

What increases my risk for osteogenesis imperfecta?

There are many risk factors for osteogenesis imperfecta, such as:

  • Thin or small frame;
  • Family history of the disease;
  • Being postmenopausal and particularly having had early menopause;
  • Abnormal absence of menstrual periods (amenorrhea);
  • Prolonged use of certain medications, such as those used to treat lupus, asthma, thyroid deficiencies, and seizures;
  • A diet low of calcium, vitamin D intake;
  • Lack of physical activity;
  • Smoking;
  • Excessive alcohol consumption.

Understand the diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is osteogenesis imperfecta diagnosed?

  • Physical exam. Check your child’s eyes have a blue tint in the whites.
  • Genetic testing. Chorionic villus sampling (CVS) may be done during pregnancy to determine if the baby has the condition. However, because so many different mutations can cause OI, some forms cannot be diagnosed with a genetic test.
  • The severe form of type II OI can be seen on ultrasound when the fetus is as young as 16 weeks.

How is osteogenesis imperfecta treated?

There is currently no cure for OI. OI is best managed by a medical team, including the child’s own doctor, and genetic, orthopedic and rehabilitation medicine.

Some treatments include physical and occupational therapies, bisphosphonates, intramedullary rodding (placing rods in the bones).

Lifestyle changes & Home remedies

What are some lifestyle changes or home remedies that can help me manage osteogenesis imperfecta?

The following lifestyles and home remedies might help you cope with osteogenesis imperfecta:

  • Eating food rich in calcium and vitamin D or supplements contains these elements for healthy bones.
  • Physical activity. Like the muscle, bone is living tissue that responds to exercise by becoming stronger.Weight-bearing exercises are highly recommended for bone loss prevention, such as walking, standing, lifting and swimming. However, all adults, including those who spend most of their time in wheelchairs, need to consult with their doctor and a physical therapist about developing an appropriate exercise program.
  • Healthy lifestyle. Stop smoking and limit the amount of alcohol consumption to reduce the negative effects on body systems.
  • Bone density test.Bone mineral density (BMD) tests measure bone density in various sites of the body. BMD measurements are often reported in terms of peak bone mass in young adults. However, people with OI, because of short stature, the curvature of the spine, past vertebral fractures, or the presence of metal rodding, may not be able to get an accurate reading. Nearly all adults who have OI have low BMD.
  • There is no cure for osteoporosis. However, medications are available to prevent bone loss, increase bone mass, and treat the disease. Women and men who have OI seem to be using these medications successfully. Consult with your doctor to determine which medication is right for you. Many of these medications require long-term use.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

msBahasa Malaysia

Review Date: October 8, 2016 | Last Modified: January 4, 2017