Osteogenesis Imperfecta (Brittle Bone Disease,)

Osteogenesis Imperfecta
Body Parts: Whole Body
Medical Subjects: Children's Health Bone Genetic disease

What Is Osteogenesis Imperfecta?

Osteogenesis imperfecta, also called brittle bone disease, involves not only bones but also muscles, ligaments, fascia, dentin, and sclera. It is named because its main clinical manifestation is fragile bone.

Patients with brittle bone disease present with repeated fractures, malformed bone growth, short stature, blue sclera, discolored or even depressed and defective teeth, loose joints/skin, and hearing abnormalities.

Is osteogenesis imperfecta common?

The disease is rare and has a very low incidence, probably one in 10,000 to 100,000 people.


What Is The Cause Of Osteogenesis Imperfecta?

What causes osteogenesis imperfecta?

Osteogenesis imperfecta is a disease caused by a mutation in a certain gene in the body. This gene determines the quality of type I collagen.

Type I collagen is present in bones, muscles, ligaments, fascia, dentin, and sclera, and can cause lesions in these tissues when quality problems arise.

Is osteogenesis imperfecta hereditary?

Yes. Most osteogenesis imperfecta is inherited, and about 90% of osteogenesis imperfecta is dominant. In case of dominant inheritance, one parent suffers from the disease, and the probability for the offspring to suffer from the disease is at least 1/2.


What Are The Symptoms Of Osteogenesis Imperfecta?

What are the manifestations of osteogenesis imperfecta?

According to the genetic method and clinical manifestations, it is divided into:

  • Type I: autosomal dominant, characterized by fragile bone mass, postnatal fracture, and blue sclera.
  • Type II: autosomal recessive with a possibility of fetal death and survivors with dark blue sclera, femoral deformity, and beaded ribs.
  • Type III: autosomal recessive with bone fractures at birth, progressive exacerbation of multiple fractured skeletal malformations, and normal sclera and hearing.
  • Type IV: autosomal dominant with normal sclera and hearing, presenting only as fragile bone.

Does not plenary session of ossification affect infantile growth and development?

Osteogenesis imperfecta not only leads to short stature, but also leads to skin relaxation, tooth growth limitation, hearing impairment and the like, and not only affects physical development of children, but also affects psychological development, so parents should actively guide.

Does osteogenesis imperfecta affect life span?

In some serious cases, the patient dies in the fetal period. Patients with mild symptoms can be the same as normal people, with normal height and life expectancy, but slightly brittle bone.

Most patients with osteogenesis imperfecta are prone to fracture because of their fragile bones, poor quality of life and short life span.

Is osteogenesis imperfecta and dwarfism the same disease?

No, although both diseases can lead to short stature, their pathogenesis and treatments are different.

Dwarfism is a growth retardation caused by insufficient secretion of growth hormone. If growth hormone is replenished as early as possible, the growth height can be increased.

The type III and type IV of osteogenesis imperfecta may cause the patient to be lower than normal in height. If medication and orthopedic surgery can be given as soon as possible, the normal growth direction can also be restored, which is beneficial to children's growth.


How To Check For Osteogenesis Imperfecta?

Clinical diagnosis is usually made by physical examination with questions about the symptoms and family history. If the symptoms are atypical and a definitive diagnosis of osteogenesis imperfecta is required, genetic testing is required.


How To Prevent Osteogenesis Imperfecta?

Can osteogenesis imperfecta be prevented?

Osteogenesis imperfecta is a genetic disease, and if one of the parents falls ill, the offspring can be evaluated for the disease through genetic counseling and prenatal screening. If genetic counseling determines that the likelihood of future generations developing the disease is high, breeding is not recommended.

If pregnancy is possible, close prenatal care is required during pregnancy. If everything is normal in the prenatal examination, pregnancy can continue, as long as the child is not sick, so later his offspring will not be sick. Prenatal screening for osteogenesis imperfecta requires an analysis of its severity, in cases of severe congenital osteogenesis imperfecta the physician usually recommends termination of pregnancy and in milder cases cesarean section during delivery is recommended to reduce damage to the fetus.

Is osteogenesis imperfecta screened during fetal life through antenatal care?

Ultrasound is preferred and can generally be seen at 16 weeks of gestation in the fetus with agenesis. It is recommended to find an experienced sonographer and conduct multiple examinations when necessary to avoid omissions.

Second, genetic testing of the fetus can also diagnose osteogenesis imperfecta and detect the specific type of gene mutation.

If no abnormalities are found in the above two examinations, and there is a high suspicion that the fetus has incomplete bone formation, we may consider using uterine X-ray imaging to determine the condition of the fetus. X-rays have the potential to cause radioactive damage to the fetus and are used only in highly suspicious cases.


How To Treat Osteogenesis Imperfecta?

When should osteogenesis imperfecta patients begin treatment?

Treatment should be started as soon as the disease is found.

Which department should patients with osteogenesis imperfecta go to?

Orthopedic, preferably pediatric orthopedic, larger children's hospital with pediatric orthopedic. You can also consult the genetics department at the same time.

Does osteogenesis imperfecta require hospitalization?

If a fracture occurs, hospitalization is definitely required and will be longer and more difficult to treat than for the average fractured patient.

How to treat osteogenesis imperfecta?

First of all, drug treatment, the current treatment of effective drugs for bisphosphonates. The effectiveness of drugs such as growth hormone and estrogen is still under investigation. When fractures, bone deformities, and so on and so forth, then need surgery treatment.

  • Bisphosphonates have the effect of strongly inhibiting bone resorption and increasing the strength of the bone, thereby treating osteogenesis imperfecta.
  • At present, the commonly used bisphosphate drugs include: alendronate, nelliphosphonate, opadronate, risedronate, ibandronate, zoledronic acid, clodronate, pamidronate, and tildronate. Some medications are administered intravenously, and some may be administered orally.
  • The earlier bisphosphate is used, the better the therapeutic effect will be. The best therapeutic period is 2–4 years before long-term child medication. Therefore, once osteogenesis imperfecta is diagnosed, treatment should be started immediately.

What are the side effects of bisphosphonates used in the treatment of osteogenesis imperfecta?

  • The most common are mild gastrointestinal complaints, such as heartburn, nausea, and vomiting.
  • Cold-like symptoms such as fever, myalgia, arthralgia, and headache may occur with the first use of bisphosphonates. This is a normal phenomenon, there is no need to panic.
  • A rare and serious side effect is mandibular necrosis.
  • In some patients, teething may be delayed for 1–2 years after medication.
  • Respiratory distress may occur after use in infants and young children.
  • There are also rare complications, such as conjunctivitis, uveitis, and scleritis.

When does osteogenesis imperfecta need surgical treatment?

Surgery is recommended in the following situations.

  • Fracture, requiring surgical fixation.
  • Bone malformations, such as femoral flexures, spinal flexures, and the like, require surgical correction to restore their normal height and growth orientation.
  • In some patients with severe osteogenesis imperfecta, surgical treatment is required before the fracture occurs in order to prevent the occurrence of fractures or bone deformities. For example, children with type III osteogenesis imperfecta should receive lower limb intramedullary nailing preventively before they can stand and walk on their own to prevent bone bending or fracture caused by walking.

How to rehabilitate after operation of osteogenesis imperfecta?

If the operation is preventive, no plaster or braces are usually needed to fix the joints after the operation, and the rehabilitation exercise can be started immediately. Leg lifts can be performed on the bed to prevent muscle atrophy, alleviate edema, and enhance lower limb strength.

In the case of orthopedic surgery, the lower limbs may be fixed post-operatively with a cast. The cast can generally be removed after 3 weeks and rehabilitation exercises can then be started. First, exercise the joint range of motion. After the bone parts are long, you will begin to practice walking, help the crutches and bear some weight.

Does osteogenesis imperfecta and spinal deformity patient must operation?

Not necessarily. It depends on the angle and progression of the spinal deformity and scoliosis. The doctor will make a decision whether to operate after comprehensively evaluating and measuring the degree of bone development of the patient.

If surgery is needed, it is usually better to perform the surgery after the progression of spinal deformity stops. For example, mild osteogenesis imperfecta can be reoperated after the rapid growth and development stops (generally after 13 years old).

However, if it is serious osteogenesis imperfecta, the spinal deformity will be obvious at the age of 7–13 years old, and early surgical intervention is required.

Is stem cell therapy reliable for osteogenesis imperfecta?

The prospect is promising, and there have been several cases of osteogenesis imperfecta patients successfully treated with stem cell therapy. However, the research data at this stage are limited and cannot be carried out on a large scale.

Is gene therapy of osteogenesis imperfecta reliable?

Unreliable. Some people have tried to treat osteogenesis imperfecta by genetic modification of cells, but it is only in the animal experiment stage. Don't buy into all the ads for gene therapy.


What Should Patients With Osteogenesis Imperfecta Pay Attention To In Life?

Does osteogenesis imperfecta patient have children?

Sure. It is recommended that a geneticist be consulted prior to pregnancy to assess the risk of osteogenesis imperfecta in the offspring.

If pregnancy is possible, antenatal check-ups during pregnancy and, if necessary, pre-natal screening will be strengthened.

Are patients with osteogenesis imperfecta unable to move, or moving as little as possible?

No. Many parents ask their children to move as little as possible or not even exercise because they are worried about their children's brittle bones and easy fracture. This is wrong. Moderate exercise does not result in fractures, but non-exercise results in further deterioration of bone quality.

Sports need to do according to one's ability, and to prevent falls, bruises, etc. Many scholars recommend patients with osteogenesis imperfecta to carry out swimming and other water sports, because swimming does not need to bear weight, and there is no collision, so the risk of fracture is low.

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