Osteogenesis imperfecta – congenital osteoporosis

Osteogenesis imperfecta, OI, is also called congenital osteoporosis because osteoporosis is one of the most common symptoms. This means that people with OI easily break different bones in the body. OI can occur in several levels of difficulty.

The disease is due to genetic changes, so-called mutations, which are usually hereditary. They affect the collagen type 1 fiber protein, which is found in the bone tissue, among other things, so that the skeleton is weakened. The same protein is found in ligaments, eye whites and teeth. It allows the disease to affect several parts of the body.

Osteogenesis imperfecta is an uncommon disease. many countries, about five children are born each year with the form of OI that is already detected at birth.

Symptoms of osteogenesis imperfecta

The most common symptom of osteogenesis imperfecta is that different bones in the body are easily broken. It can happen without any real stress on the part of the body where the bone fracture occurs. Already when the baby is born it can have several fractures.

OI is found in various difficulty levels. The mildest form involves few or no bone fractures. The only symptom then may be that the whites of the eyes are bluish.

Other common symptoms of osteogenesis imperfecta:

  • Short growth, especially in more severe variants of the disease. But even if you have the milder variant, you will be slightly shorter than others in the same family.
  • Movable joints.
  • Fragile teeth, called dentinogenesis imperfecta.
  • Hearing loss.
  • Dizziness and balance difficulties.
  • Blue-tinted eye whites. But everyone with OI does not have this and healthy children can have shimmering eye whites up to about two years old.
  • Easy to get bruises.
  • Pain.
  • Cardiac failure.

When should I seek care?

If you suspect you or your child has OI may consult a doctor on the medical center , child care centers , pediatric clinic for an initial assessment. 

Adults with OI should be given the opportunity to assess a doctor who is a specialist in osteoporosis.

If you have OI and are pregnant, you should be checked for specialist maternal care. You should also consult your doctor, as there is a 50 percent risk that your child will also get OI. Recommendations for how the birth should go and a possible assessment of the child vary depending on the severity of your OI.

You can  seek care  at any healthcare center you want throughout the country. You also have the opportunity to have a regular doctor’s contact at the health center.

Investigations and investigations

The more severe forms of OI can be detected already during an ultrasound examination during pregnancy or during the baby’s first day. If the newborn shows symptoms of OI, the doctor can often make the diagnosis after an X-ray examination.

Mild forms of OI can be detected later. Then several different examinations are usually required for the doctor to make a diagnosis. Most often it is an X-ray examination in combination with an examination by a doctor, physiotherapist or dentist.

You can live with the mildest forms of OI without ever being detected.

You have the right to understand

In order for you to be able to participate in your care and make decisions, it is important that you understand the  information you receive  from the healthcare staff. Ask questions if you don’t understand. You can also ask for information printed so that you can read it peacefully.

Treatment of osteogenesis imperfecta

There are no drugs or treatments of osteogenesis imperfecta yet to cure the disease. However, there are various treatments that can relieve the symptoms and reduce the bone’s degradation.

Newborn babies with the more severe forms of OI need to be taken care of with caution, for example when lifting, changing diapers and dressing.

If needed, children with OI throughout their childhood will have the opportunity for various forms of habilitation. This means support in everyday life to avoid injuries. It is very individual what each person needs and what is included in the habilitation. It can be aids, treatments, information and call support.

It is also important that family members, playmates, teachers and other people in the child’s vicinity receive information about the illness so that accidents can be avoided.

Physical activity

Both children and adults with OI need to move , even if there is a risk of fracture. By being active you reduce the risk of the skeleton becoming even more calcified. It is good to work out in a hot water pool. For those who have the opportunity, it is good for the skeleton to walk and stand a lot

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