Symptoms And Treatment For Brittle Bone Disease

Brittle bone disease is a genetic disorder that causes bones to break easily due to collagen production problems and bone integrity. This disorder is also known as Lobstein syndrome or Osteogenesis Imperfecta. Eight separate types of this condition exist based on the severity of the condition. There isn't a cure for brittle bone disease, but the symptoms are manageable. Along with physical effects, there are also social and psychological effects. Child abuse has been suspected in some cases where the condition has not yet been diagnosed and children appear with unexplained broken bones and bruises.

 

What Is Brittle Bone Disease?

Brittle bone disease presents a variety of symptoms based on the severity of the condition. Eight types of brittle bone disease have been identified that include genetic variation, levels of collagen, and other symptoms.

 

Types of Brittle Bone Disease

  • Types I-V are caused by a child receiving an abnormal gene from one parent, called autosomal dominant genes
  • Types VII and VIII are caused by both parents passing the abnormal gene, or autosomal recessive
  • Type VI could be a mutation as it is unclear whether it is recessive or dominant

Causes

This genetic condition is typically passed on by one or both parents. It can also be due to a spontaneous gene mutation. Most cases are due to the dominant mutation where the gene is passed on to the child by the parents. It can also come from a recessive gene where neither parent has the condition but passes on the gene to their child.


How to Diagnose

Not all people with brittle bone disease have visible symptoms so they can be difficult to diagnose. Unless bones have been broken many times, X-rays and bone density testing will not be reliable as they won't show any problems. Looking at collagen or genes that can cause collagen mutations is sometimes the best way to make a diagnosis, but these are not always reliable methods either. Some children are diagnosed early in their lives.

Babies born with brittle bone disease who suffer from broken bones can be diagnosed with a physical from your physician. Sharing your medical history and that of your family and taking urine and blood tests will help to rule out other conditions that can cause bone weakness such as rickets.

Genetic testing can also be done to confirm if members of your family have brittle bone disease or carry the gene that can be passed on to your children.


Symptoms

The symptoms present will depend upon the type of brittle bone disease that one has been diagnosed with. People with this condition have a lot of bruises and fractures. They will have a higher than normal voice. Their teeth will be brittle. About half of the people with brittle bone disease will have hearing problems due to their inner ear bones breaking easily or being deformed. They may sweat a lot and get overheated easily. The whites of their eyes will have a blue cast, but those with Type IV don't present this symptom. Type V possesses collagen cells that resemble mesh and Type VI have collagen with a fish scale pattern.

Types and symptoms associated with brittle bone disease range from mild to lethal severity. Below are some symptoms of brittle bone disease categorized by severity.


Mild Condition

  • Average life expectancy
  • A decrease in broken bones post-puberty
  • Premature hearing loss
  • Height not affected
  • A few to many broken bones
  • Little to no bone deformity
  • Few signs of the condition

Moderate to Severe

  • Severe breathing problems
  • May be immobile and need a motorized wheelchair
  • May suffer a few to hundreds of fractures throughout a lifetime
  • Deformed ribcage and or spine
  • Short in height
  • Long bone problems that get progressively worse with age
  • Infants are born with a soft skull, an unstable neck, or many broken bones
  • Increased frequency and number of broken bones

Lethal

  • Breathing problems and severe fractures that cause death shortly after birth
  • Babies die in the womb or soon after birth

Some Physical Symptoms That Indicate Brittle Bone Disease:

  • Loose ligaments
  • Bluish sclera
  • Hearing defects
  • Tooth defects
  • Scoliosis
  • Short stature
  • Bone fragility

Types

  • Type I is the mildest form and is often seen in preschool children
  • Type II lethal at birth
  • Type III seen at birth, there are many fractures and the child is often unable to walk
  • Type IV symptoms are between Type I and III

Treatment

As there is no cure for brittle bone disease, treatment options of how to avoid breakages and deformities, relieve symptoms, and maximize movement are prescribed. Bones are more vulnerable to breakage in Types I and IV during growth spurts and can happen in the simplest of accidents. Children with this condition should work with a physical therapist to help the building of muscle and to avoid breakage of their bones.

People who suffer from deformed ribcages and spines will sometimes experience life-threatening breathing difficulties. In these cases, they may need to be on oxygen.

Others living with this condition may live a productive and healthy life with regular monitoring and the correct treatment which may include:

  • Dental work such as crowns to strengthen brittle teeth
  • Metal rod implants in the legs or arms
  • Bone-strengthening medication
  • Physical therapy to improve movement and strengthen the body
  • Braces to support weak wrists, knees, ankles, and legs
  • Casts and splints for broken bones

Other things you can do:

  • Avoid smoking or second-hand smoke
  • Discuss steroid use with your doctor as it can diminish bone density
  • Minimize caffeine
  • Drink alcohol occasionally or avoid completely
  • Include calcium and vitamin D in your diet, excessive amounts are not recommended
  • Make sure to get a physician-approved exercise routine
  • Maintain a healthy weight, too much weight can put additional stress on the bones

Surgery

Some people will go through spinal fusion surgery to fuse the spine which helps with curvature and posture. Often bones are so fragile in these patients that the procedure is risky. Some patients respond well to osteoporosis medication, but there is no medicine specifically for the treatment of this condition. Surgery is done based on the severity of the condition and the patient's age. When children are diagnosed at a young age, surgical stabilization of fractures is a common treatment.

Broken bones are stabilized with surgery and it is done to prevent deformities. A procedure call intramedually rodding is performed by placing a metal rod into the center of the bone to support fragile bones. To prevent deformity, such as scoliosis, aggressive treatment is taken in children with this condition.


Medication and Other Treatment Modalities

Calcium supplements and bisphosphonates are showing promise in the treatment of brittle bone disease. It is thought they can decrease the number and frequency of fractures and strengthen the bones. Growth hormones are also used in research settings and genetic therapy.

Treatment also includes maintaining healthy bones by maintaining a healthy weight, getting regular exercise, and eating a nutritious diet.

 

Psychological and Social Effects

Being that this is mostly an inherited condition, it has also been found that brittle bone disease can be a genetic mutation occurring in approximately 25% of cases. When a child has a lot of broken bones and bruises that are unexplained it is sometimes assumed that they are victims of child abuse. This can be resolved with genetic testing, but for those cases where there are still questions, a trained expert can look at other symptoms such as physical features and conditions.

When children have brittle bone disease, they may be afraid of physical activities due to the fact that they are prone to experiencing injuries or broken bones when they engage in them. Psychotherapy is often used to address these fears and a physical therapist can help children discover what their physical limitations are. Many children develop body image problems that come to light in their teen years. Support groups and psychotherapy can help these young people to cope with their condition.


Conclusion

Brittle bone disease is caused by a defect in collagen production. Collagen protein is vital in supporting the body. Of the several types of collagen we have, Type I is the most abundant and found in the bones, teeth, ligaments, and eye sclera.

Brittle bone disease affects both men and women and people of all races. It may show itself in a baby having their diaper changed or being burped and they suffer a broken bone. Some people experience only a few broken bones in their lifetime while others may have hundreds. Some babies are born with fractures or while they are developing in the womb. Some children won't experience symptoms until they are in their teens. The general symptoms of brittle bone disease include:

  • Weak tissues and muscles
  • Short height
  • Loose joints
  • Intolerance for warm temperatures
  • Hearing loss that develops in early adulthood
  • Easily injured skin
  • Feeling tired
  • Scoliosis
  • Discolored, brittle teeth
  • Breathing issues
  • Bowed legs
  • Bluish sclera
  • requent nosebleeds, heavy bleeder when injured, bruises easily
  • Fractures and broken bones

There are preventative measures that can be taken to prevent injury and strengthen the muscles supporting the bones. This condition is untreatable, but it can be managed.