What is brittle bone disease
Brittle bone disease
is a lifelong genetic disorder that causes your bones to break very easily,
usually without any injury, such as from a fall. Your doctor may also call this
osteogenesis imperfecta.
It affects both sexes
and all races equally.
There is no cure for
brittle bones, but your doctor can treat it.
Causes
Brittle bone disease
is inherited. It is caused by a defect in the gene that is supposed to produce
a substance called collagen. Collagen is the protein in your body that forms
and strengthens bones. If it's not enough, your bones become very weak and
break easily.
Most children with
brittle bones get this gene from only one parent, but it is possible to get it
from both. Sometimes a child does not inherit a gene from either parent, and
the gene mutation develops on its own.
Symptoms
The main symptom of
bone fragility is a broken bone. They break very easily. Your baby may break a
bone during a diaper change or even burp. A person with this condition may have
only a few broken bones in their lifetime, or maybe hundreds. Sometimes babies
are born with broken bones or forced to grow in the womb. In other cases,
symptoms do not appear until adolescence or later.
General symptoms of
brittle bones can be mild or very severe. They include:
- Broken bones (fractures)
- Bleeding and easy bruising (frequent nosebleeds or heavy bleeding after an injury)
- Blue color in the white part of the eyes
- Bowing of the legs
- Breathing problems
- Brittle, discolored teeth
- Curved spine, called scoliosis
- Feeling very tired
- Skin that is easily hurt
- Hearing loss that starts in early adulthood
- Can’t stand warm temperatures
- Loose joints
- Low height
- Weakness of muscles and tissues
Doctors classify bone
fragility into types based on symptoms and number of fractures. The most common
types of bone fragility are:
Mild
- Few signs of the condition
- Little to no bone deformity
- Number of broken bones from a few to many
- Height not usually affected
- May have premature hearing loss
- Broken bones decrease after puberty
- Average life expectancy
Moderate to severe
- Increased number and frequency of broken bones
- Babies can be born with many broken bones, an unstable neck, or soft skull
- Problems with long bones slowly get worse
- Short height
- Abnormally shaped spine and rib cage
- May have a dozen to several hundred broken bones in a lifetime
- May not be able to move and may need a motorized wheelchair
- Severe breathing problems can lead to early death
Lethal
- Babies usually die in the womb or soon after birth
- Severe fractures and breathing problems cause death soon after birth
Diagnosis
If your baby was born
with broken bones, a doctor can diagnose the condition with a physical exam.
Your doctor will
examine your child and ask questions about your family and medical history.
Blood and urine tests
will rule out other health problems that can cause bone weakness, such as
rickets.
Genetic testing can
confirm bone fragility. Genetic testing can also determine if you or your family
members are carriers of the gene.
Treatment
There is no cure for
brittle bone disease, but treatment can relieve symptoms, prevent bones from
breaking, and increase mobility.
Severe forms of the
disease can affect the shape of the chest and spine, which can lead to
life-threatening breathing problems. Some people may need oxygen.
But in many other
cases, people with the condition lead healthy, productive lives with regular
monitoring and proper treatment.
This treatment may
include:
- Splints and casts for broken bones
- Braces for weak legs, ankles, knees, and wrists
- Physical therapy to strengthen the body and improve movement
- Medicine to make the bones stronger
- Surgery to implant rods in the arms or legs
- Special dental work, such as crowns, for brittle teeth
Other things that
could be helpful:
- Try to maintain a healthy weight. Too much weight adds stress to the bones.
- Talk to the doctor or physical therapist about a safe exercise routine.
- Eat a diet rich in vitamin D and calcium. But high doses of these supplements are not recommended.
- Avoid alcohol, or drink it only occasionally.
- Cut back on caffeine.
- Discuss the use of any steroid medications with your doctor. These drugs reduce bone density.
- Do not smoke. Avoid secondhand smoke.