The brittle bone disease or osteogenesis imperfecta is a genetic disease in which the collagen balance is disturbed and as a result, the bones break easily and deform. The course of vitreous bone disease depends on the type of gene damage.

What is the vitreous bone disease?

Even slight bumps or heavier loads on the bones can cause a fracture under certain circumstances. These fractures are then called spontaneous or fatigue fractures.
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The glass brittle disease is a hereditary disease in which collagen formation in the body is disturbed. Collagen is important for bone formation. It is also found in ligaments and tendons, in the conjunctiva of the eye and in the teeth.

Osteogenesis imperfecta means something like "incomplete bone formation." Normally, the bones of the human skeleton consist of collagen rods, which in turn are formed from collagen fibers, and minerals. Both together provide both stability and elasticity of the bones.

In vitreous bone disease, either insufficient collagen is present or the collagen fibers form abnormally shaped collagen rods. This changes the structure of the bones; they are no longer stable enough and break like glass, which has led to the colloquial name glassbone disease. Originally, four different types of the disease were assumed, but in the meantime, another three have been discovered, so that today there are 7 types of vitreous bone disease.

causes

The cause of the vitreous bone disease is a mutation (change) of the gene responsible for the production of collagen. This genetic defect transmits a defective messenger substance to the body cells, which then produce incomplete or modified collagen fibers.

This results in deformed or broken collagen rods that are unable to give the bone the required stability. The severity of the disease is dependent on the extent of defects in the collagen rods.

However, there are also types of vitreous bone disease, in which, although completely normal shaped collagen rods are produced, but their number is far too low, that they could stabilize the bones. In this type of vitreous bone disease, only weak symptoms develop.

Symptoms, complaints & signs

The symptoms of osteogenesis imperfecta are highly dependent on the type of disease. Most severely affected are patients of type 2, where the disease is usually fatal at a young age. The commonly used term of vitreous bone disease otherwise circumscribes the characteristic features of those affected already figuratively quite apt. Due to insufficient bone formation, bone fractures are excessively common.

Even slight bumps or heavier loads on the bones can cause a fracture under certain circumstances. These fractures are then called spontaneous or fatigue fractures. As a result, deformities of the skull, dwarfism and deformities of the spine (for example scoliosis) occur. This insufficient bone formation can also be visualized on the X-ray.

The bones allow more X-ray radiation and the bone is darker in the X-ray image. Physicians describe this phenomenon as increased radiation transparency of the bones. The teeth may also be affected by the increased brittleness. The other symptoms of hereditary disease are very complex.

They include deafness, weak muscles and hyperextensible joints, tinnitus, myopia and increased sweating. Outwardly conspicuous, the type 1 osteogenesis imperfecta may be the blue sclera. Sclera is the normally visible white of the eye.

Diagnosis & History

The course of vitreous bone disease varies depending on the underlying type of genetic defect. The diagnosis is usually based on the symptoms and confirmed with an X-ray.

On x-rays, healthy bones look white, while less dense bone appears more translucent. The bends and healed old fractures resulting from the vitreous bone disease can also be easily recognized on an x-ray. The disease varies depending on the type.

Type 1 is most common and mildest, while type 2 is the most severe. People with type 2 do not have a long life expectancy and often do not survive childbirth. The typical symptoms of vitreous bone disease are fractures and deformations of the bones. The sclera (the dermis = the white of the eye) can be shaded bluish, reddish or gray.

The body can be largely normal, as in Type 1, but it can also severe spine curvature or dwarfism occur (Type 4). The teeth are often fragile and the hearing deteriorates in adolescence. Underdeveloped lungs and associated respiratory problems also occur in vitreous bone disease.

complications

Osteogenesis imperfecta severely limits the patient's quality of life. The everyday life of the person affected is usually associated with severe pain and limitations. Not infrequently, it also causes depression and other mental upsets that can be treated by a psychologist. The bones break easily and can also be easily deformed.

Not infrequently, patients also suffer from stunted growth and very often bruises on the skin. The spine can also be affected by osteogenesis imperfecta. Furthermore, most sufferers also suffer from respiratory complaints, which can lead to a reduced oxygen supply. It is not uncommon for children to become victims of bullying or teasing, which can lead to depression or inferiority complexes.

The relatives and parents of the children may be affected by depressive moods. A causal treatment of osteogenesis imperfecta is not possible. For this reason, only the symptoms are usually limited. The person concerned, however, has to renounce risks and certain sports and suffers from severe restrictions in life. The pain can also be limited by therapies. There are no further complications.

When should you go to the doctor?

A visit to a doctor is necessary as soon as irregularities of the body structure are present. If it comes to deformations, unusual bone stomachs or a short stature a doctor is to be consulted. Children who show low growth in direct comparison to their peers, or whose joints may extend unnaturally far, are to be presented to a doctor for follow-up. If visible deformations of the spine are discernible, this observation should be discussed with a physician.

If the affected person's bones break very fast, a doctor is needed. If the fractures already occur in light falls or bruises, this is considered unusual. The procedures are to be observed well and clarified as soon as possible with a physician, in order to avoid further complications.

If the person suffering from the frequent formation of bruising or bruising, a doctor should be consulted. In case of respiratory complaints, a white eye skin and a conspicuous weakness of the connective tissue, a doctor is needed. If there is a mental health problem in a diagnosed vitreous bone disease, a doctor's visit is also necessary.

The patient needs emotional help in everyday life in order to deal with the illness and its consequences. Therefore, a doctor should be visited for behavioral problems as well as personality changes. In the case of social withdrawal, a melancholic or depressive mood as well as aggressive tendencies, a doctor must be consulted.

Treatment & Therapy

The glassbone disease is a disease that lasts for life. Since it is caused by a genetic defect, it is not curable. People are advised to set up their lives so that their bones are not additionally burdened or damaged. That is, they should eat healthily, enjoy nicotine and alcohol in moderation, and pay attention to their weight.

Even if there is no healing therapy, it is important for the further course to recognize the disease early. If the symptoms are treated at an early stage, complications can be prevented and the symptoms at least somewhat alleviated. At present, three treatment routes are common. One way is to administer biphosphonates. This is a substance that stores itself in the bone and inhibits the degradation of the bone material.

Another treatment option for vitreous bone disease is intramedullary nailing. In this case, metal rods are inserted into the interior of the longitudinal bone in an operative procedure. These act like splints, they stabilize the bones and prevent fractures and deformations. As a further treatment, physiotherapy is used with the aim of strengthening the muscles so that they can support the bones.

Most of the training is done in the water, since there is no risk of falling and patients can move well themselves. However, the success of the treatments also depends on the type of vitreous bone disease.

Outlook & Forecast

Patients with osteogenesis imperfecta have a genetic defect. Because of this, there is no cure. Through medical interventions and modern therapy options, the living conditions for those affected have improved significantly. Yet many of them have suffered physical pain and mental health throughout their lives.

The forecast and course of a vitreous bone disease depend on type and aggressiveness of a disease. In severe cases, the life expectancy is significantly reduced. Patients with Type 1 vitreous bone disease usually have a good prognosis. In them, the fractures decrease significantly after puberty, with women becoming more common in menopause again. For the most part, you can pursue a regular life and practice a job in a sitting position.

If Type 2 or Type 3 are present, the prognosis is much worse. Patients with osteogenesis imperfecta type 3 die very early. Some of them do not survive the birth and already die in the womb. Many affected children die due to numerous fractures within the first days of life to cerebral hemorrhage or difficulty breathing. The prognosis of type 3 is unfavorable. The patients are usually dependent on the wheelchair. Many of them get respiratory problems.

prevention

At present it is not possible to prevent the vitreous bone disease as it is genetically determined. In order to avoid complications and a difficult course, the early start of treatment is important.

aftercare

The follow-up of a glass-bone disease is enormously important. The person concerned should take care that he does not lift too heavy and avoids demanding activities. The bones are very sensitive and especially in the early stages of follow-up care should be given eight to the body. It is important that the instructions of the attending physician are strictly adhered to.

Also, the medication may not be discontinued in case of improvement. In order to avoid further fractures, these guidelines should always be followed. Lightweight gym exercises also help to strengthen the bones. In addition, swimming is a good activity to strengthen the weak body in a good way. Another important factor is the intake of vital vitamins and minerals.

The intake of vitamins such as vitamin B12, vitamin C or even zinc can support bone strengthening. The diet itself should be varied and healthy. Many sufferers do not know how important a balanced diet is for the bones and neglect them with fatal consequences. If these helpful aftercare options are followed by the affected person, the complaints are guaranteed to be alleviated.

You can do that yourself

Vitreous bone disease is a disease caused by a genetic defect. This disease is not curable and self-help measures are restricted accordingly.

Due to the very high risk of injury in patients suffering from such a disease, care must be taken to protect the body. Physical efforts are strongly discouraged. Even in everyday life, those affected must take care that they do not hurt themselves. The bumping on a piece of furniture can already lead to a bone fracture.

Most patients need help from family members or nursing staff who help them master everyday life. This is also important as those affected often rely on a wheelchair.

Those affected are severely restricted in their lives. This can lead to psychological problems as well as depression. Psychological treatment of patients suffering from vitreous bone disease is therefore of great importance, so that patients can learn to deal with their situation.

Participation in a self-help group on the subject of glassbone disease can also act as a mental aid for those affected. Sharing with other sufferers does not make them feel alone with this situation and they can learn more about how others master their everyday lives.

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