What is osteogenesis imperfecta and how to live with it

Miscellaneous / by admin / July 31, 2021

The life hacker, together with the experts, figured out the peculiarities of the "crystal" people.

What is osteogenesis imperfecta

ImperfectOsteogenesis Imperfecta (OI) / Medscape osteogenesis, or “fragile person” disease, is a genetic disease in which collagen protein synthesis is disrupted. Therefore, bones break easily, and organs and tissues that contain collagen fibers also suffer.

The disease is very rare: it is foundOsteogenesis Imperfecta (OI) / Medscape about 1 in 20,000 children. But these statistics are inaccurate, since mild forms of pathology are not always taken into account.

Elena Meshcheryakova

Founder and Director of the Fragile People Foundation.

It is not known for certain how many people with osteogenesis imperfecta in Russia. The register for this disease is maintained by the Ministry of Health. But around 2013, there were about 700 people on the list. We have our own database in the fund, into which we enter children and adults. There are over 600 patients living throughout the country.

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Why osteogenesis imperfecta develops

main reasonOsteogenesis Imperfecta (OI) / Medscape — gene mutationthat code for collagen synthesis. It can occur spontaneously under the influence of unknown factors or be inherited from parents.

The severity of the disease and its manifestations depend on the gene in which the changes occur.

What are the symptoms of osteogenesis imperfecta

Researchers highlightOsteogenesis imperfecta / U. S. National Library of Medicine 19 variants of pathology. Of these, type I is the lightestOsteogenesis Imperfecta / National Institute of Arthritis and Musculoskeletal and Skin Diseasesand II is the hardest. The rest are in between in terms of their effect on the body. But for all, approximately the same symptoms are characteristic. Here they areOsteogenesis Imperfecta / National Institute of Arthritis and Musculoskeletal and Skin Diseases:

Frequent fractures.
Irregular shape or curvature of long bones.
A small person, usually below average.
Easy bruising.
Very flexible joints.
Weak muscles.
The whites of the eyes are blue, gray, or purple.
The face is triangular.
Barrel chest.
Rachiocampsis.
Destruction of the vertebrae.
Brittle, deformed and discolored teeth.
Loss of hearing.
Deformity of the hip joint.
Heart diseases. They arise due to malfunctioning valves and changes in the arteries.

As a rule, signs of osteogenesis imperfecta begin to appear from childhood. Although mild forms of pathology can go unnoticed until a person grows up.

What is the danger of osteogenesis imperfecta

It all depends on the type of illness. So, in severe forms, the following complications may occurOsteogenesis Imperfecta (OI) / Medscape:

A person often develops respiratory diseases. Sometimes they lead to developmentWhat are the symptoms of osteogenesis imperfecta (OI)? / Eunice Kennedy Shriver National Institute of Child Health and Human Developmentrespiratory failure.
Children with osteogenesis imperfecta often have very large heads. If a woman gives birth naturally, the pelvic bones will press hard on the skull. Because of this, cerebral hemorrhage can occur.
In pregnant women with osteogenesis imperfecta, it is more likely that placental abruption will occur, the baby will be born with low birth weight, intrauterine growth retardation, congenital malformations or prematurely.

Elena Meshcheryakova notes that people with osteogenesis imperfecta live about the same as the rest. But they are often hampered by secondary complications. For example, with severe scoliosis, internal organs suffer, a person is more likely to get sick and may die earlier.

How is osteogenesis imperfecta diagnosed?

If a child or adult often has fractures without serious external damage or if there are other symptoms listed above, you need to contact a pediatrician or therapist. The doctor will conduct an examination and prescribe an examination to exclude other pathologies.

Elena Meshcheryakova

The disease is very rare, so simple therapists and pediatricians in the clinic do not often encounter pathology. Usually, people with fractures come to the attention of orthopedists, who are already beginning to observe the violation.

For primary diagnosis in children and adults, various methods are used:

Collagen research. To begin with, they will takeOsteogenesis Imperfecta (OI) Workup / Medscape cell sample skinto study in vitro how they synthesize this protein.
Radiography. In the pictures, the specialist canOsteogenesis Imperfecta (OI) Workup / Medscape consider fresh or fused fractures, abnormal growths of bone tissue, changes in the structure of the skull, deformation of the chest and pelvis.
Densitometry. This method allowsOsteogenesis Imperfecta (OI) Workup / Medscape evaluate the mineral density of bones, and therefore their fragility.

If, according to the test results, the pediatrician or therapist suspects that this is osteogenesis imperfecta, the patient will be referred to a genetist. He will offer to do analysis DNA to find gene mutations. To do this, you will have to donate blood. This method is effective in 60–94% of people.

If a woman is carrying a child who may have a genetic disorder, she may be prescribed:

Unscheduled ultrasound. HelpsOsteogenesis Imperfecta (OI) Workup / Medscape to detect signs of osteogenesis imperfecta in the fetus before delivery. Usually these are abnormally short arms and legs, which can be seen as early as 16 weeks. Sometimes doctors find abnormalities in the structure of the skull, rib fractures. At the same time, according to Elena Meshcheryakova, doctors who do ultrasound during pregnancy are poorly informed and practically do not encounter osteogenesis imperfecta. Therefore, they have no vigilance regarding this pathology and they can make a different diagnosis. For example, achondroplasia, in which limb shortening is also observed. Because of this, the disease is not always recognized during the gestation of the child and it can be injured at birth.
Chorionic villus sampling. Through a puncture in the anterior abdominal wall, the doctor will gently take a tissue sample of the future placenta. The study is carried out up to 3 months pregnancy.

How is osteogenesis imperfecta treated?

You cannot get rid of this disease. But there are ways to reduce the number of fractures and make life easier. Usually, a comprehensive approach is taken that includes drugs and other treatment options.

The main care for patients is provided by pediatricians and therapists. But when endocrine, neurological problems, complications from the cardiovascular system appear,Treatment / Osteogenesis Imperfecta Foundation narrow specialists: endocrinologists, neurologists, cardiologists, and so on.

Elena Meshcheryakova

All over the world there is such a practice when patients are treated in specialized centers, where doctors already have sufficient experience in treating this disease. But because of the size of our country, ours is different. Usually a person goes to the federal center, undergoes diagnostics, confirms the diagnosis and receives an extract. It indicates with what means and in what dosage you need to be treated. Then he can go to the medical institution at the place of residence, where he will be injected with the drug.

The method of therapy depends on the severity of the disease.

Diet

The diet should have enoughOsteogenesis Imperfecta (OI) Treatment & Management / Medscape calcium, phosphorus and vitamin D, otherwise bones will become even more fragile. Therefore, you need to eat more fish, dairy products, eggs and nuts. It is also worth making sure that the food is high in calories, especially in severe forms of pathology.

Surgical methods

In severe forms of osteogenesis imperfecta, in order to prevent fractures of the lower extremities, aOsteogenesis Imperfecta (OI) Treatment & Management / Medscape telescopic rods, sometimes pins.

Elena Meshcheryakova

In such operations, the skill of a specialist and the ability to install these structures is very important. Indeed, with osteogenesis imperfecta, bones are specific, very fragile, and one must be able to handle them. Therefore, in our country there are not many clinics where this is already possible and available.

Sometimes in children or adults, the structure of the skull changes and it begins to put pressure on the brain. In such cases, surgery is required to fix it. Also, surgery can be performed when scoliosis.

Orthopedic aids

These are differentOsteogenesis Imperfecta (OI) Treatment & Management / Medscape devices for external fixation of limbs and stabilization of joints: splints, orthoses, supports. They help in the recovery period after surgery or fracture, and are used for walking. Although some people have to move to invalid wheelchair.

Exercises

Physical activity is essentialOsteogenesis Imperfecta (OI) Treatment & Management / Medscape those who are recovering from a fracture or surgery, as well as for the prevention of injuries. The exercise therapy doctor selects a special set of movements that help strengthen the muscles.

Nadezhda Epishina

Head of the Mobile Rehabilitation Service project of the Fragile People Foundation, a physical therapist.

In osteogenesis imperfecta, activity often decreases due to fractures, there is a fear of getting another injury, which leads to even greater fragility of bones and new fractures. Exercise helps you get out of this vicious circle. They develop dexterity, endurance, coordination of movements, strengthen the musculoskeletal system.

Medicines

Worldwide, the main type of drugsOsteogenesis Imperfecta (OI) Treatment & Management / Medscape for the treatment of osteogenesis imperfecta are bisphosphonates. But the instructions to them do not mention the genetic anomaly. It is only indicated that they are used for osteoporosis in adults. Although even when collagen synthesis is impaired, these drugs help to stop the destruction of bone, increase its mineral density, reduce pain and reduce the number of fractures.

There are difficulties with the use of such funds in Russia. As Elena Meshcheryakova notes, there are no clinical guidelines, a standard of care in our country. There is only an international treatment protocol. Therefore, doctors are very often afraid of prescribing medicines for children, which prevents the spread of drug therapy.

It is easier for adult patients: as a rule, they have concomitant osteoporosis, for the treatment of which bisphosphonates are just needed.

Also, scientists allow in some cases the use of growth hormone and hormone of the parathyroid glands.

Cell and gene therapy

While these techniques are in the development phase. Scientists noteOsteogenesis Imperfecta (OI) Treatment & Management / Medscape that bone marrow transplant can be used in people with osteogenesis imperfecta. For treatment, a person is planning to inject stem cells, which are precursors of osteoblasts that form bone tissue and synthesize collagen.

Also, studies are being carried out in which they try to transplant into the patient's bone his own osteoblast cells with an altered genetic structure. They must synthesize collagen with a normal molecular structure.

Who pays for the treatment

Drugs, like other therapy options, are available on compulsory medical insurance. But for this you need to undergo an examination and have a medical record.

Elena Meshcheryakova

You can get medicines on discharge from the federal center free of charge. By themselves, they are relatively inexpensive: about 30 thousand rubles are spent on one dropper. Taking into account the fact that they are done for children two or four times a year, and for adults - once every 12 months, for the budget of the region it is quite uplifting.

But at the same time, there are quotas for treatment, which are not enough for everyone. Therefore, medical care, such as orthopedics, is often paid for by charitable foundations.

Even in our country, difficulties arise due to the fact that drugs are often prescribed not by the trade name, but by the active substance. Therefore, at the place of residence, a generic can be issued, an analogue of the main type of medication with less effectiveness. And here it is important that the parents of the child or the adult patient himself do not give up, but seek the necessary means.

How to live with osteogenesis imperfecta

Canadian Osteogenesis Imperfecta Foundation has developed guidelinesOsteogenesis Imperfecta (OI) / Medscape for those families where there are children with this disease.

Don't be afraid to touch and lift your child, but use caution. Never take baby for the armpits. It is better to place one hand between the legs under the buttocks, and the other under the shoulders and head.
When changing a diaper, do not lift the pelvis while holding the baby's ankles.
Choose a reclining car seat that is easy to remove from your child. Place a layer of foam rubber underneath the seat belts to prevent crushing.
Do not carry a baby in a sling or roll a cane in a stroller. Use wide strollerin which the child fits well.

Adults with osteogenesis imperfecta are not advised to smoke, consume alcohol and steroid hormones, as this reduces bone mineral density.

In addition, you can reduce the likelihood of fractures at any age if you properly equip your home.

Nadezhda Epishina

To reduce the risk of injury, you need to remove slippery rugs, rearrange furniture so that there are no sharp corners, secure handrails, and wear shoes with non-slip soles or spikes. It is also helpful to do exercises for balance and endurance development, correct vision and take medications prescribed by your doctor. And some patients need to deal with the fear of falling.