Glass bone disease is a disease that causes bones to break easily. It is a congenital or genetic disease. This disease is the most common type among genetic diseases (skeletal dysplasias) affecting the musculoskeletal system.
The disease is often referred to as osteogenesis imperfecta (OI), meaning “imperfectly formed bone.”
What problems does it cause?
Glass bone disease can affect bones in varying degrees. Some cases are mild and result in several bone fractures. However, severe forms of the disease can cause problems such as multiple fractures, curvatures in the bones, hearing loss, heart failure, spinal problems.
Multiple fractures that occur in infants before or shortly after birth can sometimes be life-threatening. About one person out of 20,000 develops glass bone disease. It occurs equally among men and women and among ethnic groups.
What are the causes of glass bone disease?
Glass bone disease is caused by a defect in the gene that produces type 1 collagen, a protein used to build bone and maintain its strength. Although the defect in the gene can be seen for the first time in the family, there may also be a hereditary transmission within the family.
What are the types of glass bone disease?
Some or all of the genes responsible for collagen production may be affected in people with glass bone disease. Defective genes can produce many types of glass bone disease. The first four (types 1-4) are the most common. Other species have been described as genetic diagnostic methods have evolved. These are extremely rare and present with a clinical picture like most subtypes of type 4 glass bone diseases.
What are the four main types of glass bone disease?
Type 1 is the mildest and most common form of glass bone disease. In this type of glass bone disease, your body produces quality collagen, but not enough. This results in slightly brittle bones. Type 1 glass bone disease typically occurs in children with bone fractures due to minor trauma. Such bone fractures are especially common before school age, and with adolescence, bone density improves and fractures decrease. Typically, the whites of these children’s eyes are light blue (blue sclera) rather than pure white. Teeth can also be affected, causing tooth cracks, deformities and spills.
Type 2 is the most severe form of glass bone disease and can be life-threatening. In type 2 glass bone disease, the structure of the collagen produced is not suitable. Unfortunately, mortality rates in infancy are high due to numerous fractures and internal organ anomalies that develop especially in the womb, during or just after birth.
Type 3, like type 2, is a form in which the quality of collagen is insufficient but better compatible with life. Easy fractures of bones are seen especially when the child starts to stand up or walk. Before or after this, curvature of the bones may also develop. In these children, the white part of the eye is not blue, but white, which is its normal color. These children are well below average in height and will also develop bone deformities and be prone to fractures throughout their lives.
Type 4 is the most variable form of glass bone disease, as its symptoms range from mild to severe. As with type 3 glass bone disease, your body produces enough collagen but of poor quality. The clinical picture of the disease is generally better than type 3 and worse than type 1. These children also typically do not have blue sclera.
What are the symptoms of glass bone disease?
Symptoms of glass bone disease differ depending on the type of disease. Everyone with glass bone disease has brittle bones, but the severity varies from person to person. Glass bone disease, bone deformities, multiple broken bones, loose joints, weak teeth, blue sclera or a bluish tint to the white of the eye, bent legs and arms, kyphosis or abnormal outward curve of the upper spine, scoliosis or abnormal lateral curve of the spine, early hearing loss can cause respiratory problems and heart defects.
How is glass bone disease diagnosed?
Your doctor can diagnose glass bone disease with the clinical picture and X-rays. X-rays allow your doctor to see current and past broken bones. They also make it easier to see defects in bones. Laboratory tests, bone density measurements and genetic tests can be used to analyze your child’s bone structure.
How is glass bone disease treated?
There is no treatment for the genetic basis of glass bone disease yet. However, studies on genetic therapy methods continue all over the world and we look forward to the release of a treatment in the future. However, there are supportive treatments that can help reduce your child’s risk of bone fractures and improve their quality of life. These treatments are organized by pediatric endocrinology specialists and are applied in a certain program depending on the tests performed at regular intervals.
Treatments for glass bone disease include:
In addition to the existing bone density-enhancing drug applications, physical and occupational therapy to increase your child’s mobility and muscle strength, device applications to support the extremities, surgical treatments to correct bone deformities, heal fractures or prevent fractures are applied. Recently, telescopic nails have been frequently applied in long bone operations of children with a diagnosis of glass bone disease in growing age.
In order to get personal information about glass bone disease, it is necessary to get information from a doctor who is an expert in the field.