What is Glass Bone Disease (Osteogenesis Imperfecta)?

What is Glass Bone Disease (Osteogenesis Imperfecta)?

Glass bone disease, also known as osteogenesis imperfecta, is a genetic disease characterized by easy fracture of bones, which develops due to collagen deficiency that forms the structure of the musculoskeletal system. Especially when babies are born with glass bone disease, they have a sensitive and fragile bone structure. In glass bone disease, which generally develops due to collagen deficiency, which forms the building block of the muscular and skeletal system in the body, bones break easily without any injury.

Common symptoms of glass bone disease, the severity of which varies from person to person, are easily developing bone fractures, blueness of the whites of the eyes and hearing loss. With early diagnosis and treatment methods, the symptoms of glass bone disease can be reduced and the risk of complications can be reduced.

What are The Causes of Glass Bone Disease (Osteogenesis Imperfecta)?

The most abundant protein in bone is type 1 collagen. If there is a malfunction in the synthesis of this protein, Osteogenesis Imperfecta, or Glass Bone Disease, occurs. This disorder is transmitted genetically.
In other words, this defective gene in the parents can be transferred to the children.
This gene may be a dominant gene or it may be transmitted recessively. If it is the dominant gene, it is definitely seen in the child.
If the gene is recessive, the disease may not be seen in the child. The disease can occur even if there is no history of this disease in the person’s family. New mutations are held responsible for this.
Mutations in the gene may occur as a result of situations such as radiation and chemical exposure.
This may occur individually, even if there is no glass bone disease in the person’s family.

What are The Symptoms of Glass Bone Disease (Osteogenesis Imperfecta)?

Glass Bone Disease or osteogenesis imperfecta is a genetic disease that causes bones to break easily due to the lack of collagen protein in the structure of bones and connective tissues.

The symptoms and severity of this disease may vary from person to person.

• Bone Fractures:

Bones that break easily are the most obvious symptom of the disease. Bone fractures can occur even with minor trauma or light activities.

• Nosebleeds:

Frequent nosebleeds may occur.

• Bleeding Problems:

It is difficult to stop bleeding even after minor injuries.

• Bruises:

Bruises and bruises can occur easily.

• Crooked Legs:

Curves or distortions may appear in the legs.

• Breathing Problems:

Breathing problems may occur.

• Dental Problems:

Weak and yellowed teeth.

• Scoliosis (Spine Curvature):

Spinal curvature is a common symptom.

• Short Stature:

The neck is shorter than normal.

• Tiredness:

Feeling of chronic fatigue.

• Inability to Stand the Heat:

Hypersensitivity due to hot weather or activity.

• Eye Problems:

Blueness or color change in the whites of the eyes.

• Loose Joints:

Looseness and flexibility in joints.

• Weak Muscles:

Muscle weakness.

What are The Types of Glass Bone Disease (Osteogenesis Imperfecta)?

Glass Bone Disease is clinically classified into five different types, and each type has distinct characteristics.

These types are:

1. Type I Glass Bone Disease (Mild Type):

• Fewer symptoms are observed.
• Bone deformation is rarely or never seen.
• Height remains normal.
• The number of bone fractures is relatively less and may decrease during adolescence.
• There are usually no dental problems, but blueness may be observed in the whites of the eyes.
• There is a risk of hearing loss in adulthood.
• Joints are loose and slight curvature of the spine may be observed.

2. Type II Glass Bone Disease (Fatal Type):

• In the postnatal period, serious bone fractures and breathing problems occur.
• Babies’ bones are long and wide.
• Babies are often born with broken bones.
• The white of the eye is dark.
• This type is a disease that can result in death.

3. Type III Glass Bone Disease:

• Tends to be short and may have a triangular face shape.
• Scoliosis (spine curvature), almost gray eye whites and dental problems are common.
• It can cause serious spine and rib cage deformations.
• Muscle development is low, muscle mass is low.
• Babies can be born with broken bones.
• There is a risk of hearing loss.

4. Type IV Glass Bone Disease:

• Short stature is seen, but it is not as pronounced as in Type III.
• Bone fractures may be more common.
• Complications such as scoliosis, hearing loss, spinal curvature and bone deformations are common.

5. Type V Glass Bone Disease:

• There is short stature, but it is not as pronounced as in Type III and Type IV.
• Bone fractures may occur more frequently than other types.
• Problems such as scoliosis, spinal curvature and bone deformations may also occur.

How is Glass Bone Disease (Osteogenesis Imperfecta) Diagnosed?

The diagnosis of glass bone disease is made based on the symptoms seen in the patient, family history and clinical examinations.

The methods used for this purpose are:

• Clinical Evaluation:

The first step in diagnosing the disease is to examine the patient’s symptoms and look at his medical history. The patient’s bone fractures, short stature, bone deformities and dental problems are examined.

• Genetic Tests:

Since the disease is genetic in origin, DNA analysis is an important part of the diagnostic process. During these tests, mutations that can cause disease can be detected.

• Views:

The structure of bones and fractures can be seen with direct bone graphs, computed tomography or MRI.

• Collagen Analysis:

Collagen level in the body can be determined with blood samples. In this way, collagen production disorder can be determined.

• Bone Biopsy:

In rare cases, a bone biopsy may be required.

• Amniocentesis:

An amniocentesis performed after the 14th week of pregnancy can be used to evaluate the genetic status of the fetus in the prenatal period and to detect genetic diseases such as glass bone disease.

What is The Treatment of Glass Bone Disease (Osteogenesis Imperfecta)?

Glass Bone Disease is a genetic disease and there is no definitive treatment. Treatment is aimed at relieving the symptoms of the disease, preventing complications and improving the patient’s quality of life.

• Fracture Treatment:

When bone fractures occur, they are treated appropriately. Surgical or non-surgical methods such as fixing fractures with plaster or steel rods can be used.

• Physical Therapy and Rehabilitation:

Physical therapy programs can help patients increase muscle strength and improve mobility. This is intended to reduce bone fractures and increase the patient’s independence.

• Medication:

Medications such as bisphosphonates can increase the density of bones and help reduce fractures. Additionally, vitamin and mineral supplements can be used to support bone health.

• Surgical Intervention:

Surgical intervention may be required to correct bone deformities or, in severe cases, to use implants or prostheses.

• Dental Care:

Since dental problems are common, it is important to regularly check dental health and perform the necessary interventions.

• Precautions to Protect Bones:

In order to reduce the load on the bones, it is important for patients to pay attention to weight control and create a safe environment to reduce the risk of falling.

• Regular Doctor Checks:

It is critical for patients to see a doctor regularly to monitor the progression of the disease and adjust treatment when necessary.

Treatment is individualized depending on the type of disease, severity, and symptoms. The treatment plan aims to improve the patient’s quality of life and minimize bone fractures and complications.

What are Some Diseases That Resemble Glass Bone Disease or Show Similar Symptoms?

• Bruck Syndrome:

Bruck syndrome is a genetic disease that causes fragility of bones and joint contractures. Similar to Glass Bone Disease, bones can break easily.

• Osteoporosis Pseudoglioma:

Osteoporosis pseudoglioma is a genetic disorder that causes bones to weaken. This disease begins in childhood and can cause vision problems.

• Panostotic Fibrous Dysplasia:

This rare bone disease affects the growth of bones and can cause swelling of the bones of the head. It can cause deformities and pain in the bones.

• Idiopathic Hypophosphatasia:

Idiopathic hypophosphatasia is a disease caused by a deficiency of an enzyme that affects the mineralization of bones. This can cause bones to become weak and break.

• Juvenile Paget’s Disease:

This rare genetic disease causes bones to remodel rapidly, leading to weak bones. Fractures and deformities are common.

• Idiopathic Juvenile Osteoporosis:

This disease can cause the development of osteoporosis at a young age and leads to weakening of the bones.

How to Improve The Quality of Life of Osteogenesis Imperfecta Patients?

The support that can be provided to individuals living with glass bone disease and their families can contribute to patients achieving a better quality of life.

For this purpose the following can be done:

• Physical Activity Recommendations:

It is very important for patients with glass bone disease to engage in physical activity to increase muscle strength and support bone health. It is important that these activities are planned carefully and performed under the supervision of a doctor. Swimming, sports with low risk of trauma and physiotherapy help strengthen bones.

• Nutrition Consultancy:

A balanced diet is important to support bone health. It is aimed to increase bone density with a diet rich in calcium, vitamin D and protein. Planning is made according to the individual needs of the patient.

• Psychosocial Support:

Coping with this disease can be difficult for both the patient and their family. Patients’ emotional needs can be met with psychologist support and counseling.

• Barrier-Free Life Support:

It is important for these patients to arrange their homes and the environment appropriately for the patient. In this way, the patient’s quality of life can be improved.

• Regular Follow-up and Treatment:

Treatment of individuals with glass bone disease usually lasts a lifetime. It is important for these patients to go to their doctor for regular check-ups and to stick to the treatment. In this way, complications can be prevented and quality of life can be improved.