Osteogenesis Imperfecta Definition, Reason, Symptoms, Treatment & Prevention
Understanding
Osteogenesis imperfecta is a bone disease caused by genetic disorders. This disorder causes bones to be brittle and break easily, even without impact. This disorder is quite rare and is generally inherited from both parents.
Symptoms
Osteogenesis imperfect itself has eight types that are distinguished by the type of mutation. Types I–IV are types of domain genetic mutations that cause type 1 collagen abnormalities. Meanwhile, the location of the mutations for types V and VI is unknown. Meanwhile, types VII and VIII are types of recessive genetic mutations that result in disruption to the production of collagen itself. Each of these types has different symptoms from one another.
Osteogenesis imperfect type I
Some of the symptoms and signs that appear in this type include:
- The most common and relatively mild type of imperfect osteogenesis
- Bones break very easily and generally occur before puberty
- Posture looks normal
- Joints are not strong and muscles experience weakness
- On the whites of the eyes, visible dots of blue, purple or gray
- Triangular shaped face
- Bone abnormalities that occur minimally or not at all
- Sometimes accompanied by brittle teeth
- In some cases, hearing loss is found, especially at the age of 20–30 years
- Normal collagen structure, but the amount is less than normal
Osteogenesis imperfect type II
Signs to look out for include:
- The heaviest type
- Generally causes death shortly after birth due to respiratory failure
- Fractures are very common and cause severe bone deformities
- Short stature with underdeveloped lungs
- There are patches of color on the whites of the eyes
- Collagen is not fully formed
Osteogenesis imperfect type III
Some of the symptoms and signs that appear in this type include:
- Bones break easily. Fractures can occur during birth and X-rays can show bone healing before birth
- Short stature
- The white part of the eye has blue, purple or gray spots
- Loose joints and weak muscles, especially in the hands and feet
- Barrel-shaped chest
- Triangular face
- There may be respiratory problems
- There are bone deformities, generally severe
- In some cases, brittle teeth are also found
- In some cases, hearing loss is found
- The collagen structure is not fully formed
Osteogenesis imperfect type IV
Signs to look out for include:
- The severity of the disease is between types I and III
- Bones break very easily and generally occur before puberty
- Posture looks shorter than his age
- No abnormalities were found in the whites of the eyes
- Bone abnormalities that occur minimally or not at all
- Triangular shaped face
- Barrel-shaped chest
- Sometimes accompanied by brittle teeth
- In some cases, hearing loss is found
- The collagen structure is not fully formed
Osteogenesis imperfect type V
Some of the symptoms and signs that appear in this type include:
- Clinically resembles type IV
- Thick bands are found on bone X-rays, especially on the growth plates of long bones
- There is the formation of an abnormally large callus in the fractured area
- Calcification occurs in the layer between the radius and ulna
- The whites of the eyes are normal
- Normal teeth
- Examination of the bones under the microscope shows a net-like appearance
- Dominant abnormality type
Osteogenesis imperfect type VI
Signs to look out for include:
- Clinically resembles type IV
- Production of alkaline phosphatase (an enzyme that plays a role in bone formation) has increased. This is known from blood tests
- The image of bones under a microscope looks like fish scales
- Diagnosed from bone biopsy
- It is not certain whether the type of genetic inheritance is dominant or recessive. However, experts strongly suspect the recessive type.
Osteogenesis imperfect type VII
Some of the symptoms and signs that appear in this type include:
- Clinically resembles type IV
- Some cases resemble type II which causes death shortly after birth.
- Short stature
- Short arm and thigh bones
- Coxa vera occurs, namely changes in the shape of the head of the femur so that it affects the pelvis
- There is a recessive mutation of the CRTAP gene ( Cartilage-Associated protein )
Osteogenesis imperfect type VIII
Signs to look out for include:
- Clinically it resembles type II or type III which causes death shortly after birth.
- Growth disturbance with severe intensity
- Bone mineralization is severely disturbed
- There is a deficiency of P3H1 ( Prolyl 3-hydroxylase 1 ) due to a mutation in the LEPRE1 gene
Reason
Osteogenesis imperfect is caused by a genetic disorder of collagen, the main structure that forms bone. In imperfect osteogenesis where the mutation type is dominant, this genetic abnormality occurs in collagen type 1.
Type 1 collagen is produced abnormally, so bones become brittle and break easily. Whereas in recessive mutations, abnormalities occur in the collagen production process. Most cases of imperfect osteogenesis that occur are dominant mutation types, around 85–90 percent, the rest are recessive mutation types.
Diagnosis
To determine a diagnosis of imperfect osteogenesis, the doctor will conduct a detailed medical interview, physical examination, and other supporting examinations.
Patients with imperfect osteogenesis generally experience very frequent fractures, which can even occur hundreds of times each year. Fractures can occur anywhere in the body, including long bones and small bones.
The medical interview and physical examination were then confirmed by DNA testing in the laboratory. Ninety percent of the results of DNA examination of Osteogenesis imperfect patients show a type 1 mutation of collagen. Collagen itself is the main structure of bone formation. If this collagen is abnormal, bone density will be sacrificed, so it breaks easily.
Although this DNA examination is a confirmatory test, a negative result does not necessarily rule out imperfect osteogenesis. It could be that the cases that occur are still imperfect osteogenesis, it’s just that the mutations that occur are not detected. Or another possibility is that the patient has osteogenesis imperfect, a type of recessive mutation. In recessive mutations, there are no abnormalities in the DNA of collagen type 1, but disturbances occur in the production of collagen itself.
Reason
Osteogenesis imperfect is caused by a genetic disorder of collagen, the main structure that forms bone. In imperfect osteogenesis where the mutation type is dominant, this genetic abnormality occurs in collagen type 1.
Type 1 collagen is produced abnormally, so bones become brittle and break easily. Whereas in recessive mutations, abnormalities occur in the collagen production process. Most cases of imperfect osteogenesis that occur are dominant mutation types, around 85–90 percent, the rest are recessive mutation types.
Treatment
Until now, there is no treatment available that can completely cure patients with osteogenesis imperfecta. Handling is more aimed at improving the quality of life of sufferers. Fractures are treated with surgery, both small and large, physiotherapy and if necessary using a walker or wheelchair.
In addition, hormone therapy using growth hormones, drugs and gene therapy is also often used in patients with osteogenesis imperfecta.
Apart from medical treatment, exercise and nutritional management of patients with osteogenesis imperfecta are equally important. The recommended sports are low-impact sports such as swimming or walking. This type of exercise can minimize the potential for fractures that can occur and can help increase bone and muscle strength.
In addition, patients with osteogenesis imperfecta are also expected to be able to maintain a healthy lifestyle by not smoking, drinking alcohol, consuming excessive caffeine, and avoiding steroid drugs. All of these things can reduce bone density and increase the risk of fractures.
Complications
Various complications can occur in patients with osteogenesis imperfecta. The severity of complications depends on the severity of clinical symptoms.
The most severe complication is respiratory failure which leads to death. In addition, the psychological condition of the sufferer also often becomes the second victim after the bones. Limitations on activities, short stature often make sufferers have low self-esteem and do not have an optimal life. Depression is a threat of psychological complications that should not be ruled out.
Prevention
Osteogenesis imperfecta itself is a disease that cannot be avoided. Preventive measures are more aimed at minimizing the risk of fractures. This prevention is done by maintaining a healthy lifestyle and choosing a variety of activities that are classified as safe to do.