Congenital fragility of bones – symptoms and treatment

Proven content

Congenital fragility is a condition caused by a genetically determined abnormality in the structure of the skeleton. It is characterized by significantly increased bone fragility and brittleness. This disease is a monogenic disease resulting from damage to one gene. Currently, osteogenesis imperfecta is detected already in the prenatal stage.

What is osteogenesis imperfecta?

Congenital fragility of bones is a disease of connective tissue with a genetic basis, occurring to the same extent in people of both sexes and all races. It is caused by disorders in the structure of collagen, which makes bones more susceptible to brittleness and brittleness. We can distinguish several types of osteogenesis imperfecta, which differ in their course, symptoms and prognosis. The course of the disease may be mild or severe, but is mild in most patients. Severe forms of osteogenesis imperfecta often cause permanent deformities, hearing loss, and even heart failure. It is worth mentioning that the disease of brittle bones is classified as a single-gene disorder, i.e. the ones the formation of which is related to the damage of a single gene. Then the genes responsible for the proper structure of type I collagen are damaged.

WARNING! Occasionally, the disease may cause a baby to die before or shortly after it is born.

Congenital bone fragility – causes of formation

The cause of osteogenesis imperfecta is a defect in the genes responsible for the proper synthesis of collagen! The damaged gene is usually inherited, but can sometimes arise as a consequence of a spontaneous mutation. The disease may be inherited autosomal dominant or autosomal recessive. Most people with osteogenesis imperfecta have the predominant w genie COL1A1 l or COL1A2. This means that for the symptoms of the disease to occur, it is enough to have only one defective gene.

Our bones are built, among others by collagen. It is a substance that, thanks to its properties, gives the bones adequate strength. It is as strong as steel rods, giving concrete structures the right shape and reinforcement.

What happens when the body produces abnormal collagen?

If cells produce abnormal collagen, brittle bones are formed, devoid of strength and prone to multiple fractures – even during normal activities, in severe forms, even during sleep!

Symptoms of osteogenesis imperfecta

In addition to greater fragility and brittleness of bones, there are also:

1. short stature,
2. hearing loss
3. abnormal development of the dentition,
4. blue sclera and bone deformities, i.e. curvature of the spine,
5. bent forearm bones,
6. shortened limb bones,
7. too flaccid joints easily dislocated,
8. wounds healing with the formation of an excessively large scar,
9. susceptibility to easy bleeding – e.g. from the nose,
10. bruising (because the blood vessels are more fragile, the walls of which also contain collagen).

To support the condition of your bones, it is worth using dietary supplements, such as Natiflex Osteum Xenico, which contains hyaluronic acid, vitamin C and vitamin D3.

Types of osteogenesis imperfecta

1. Typ 1 OI – is the mildest and most popular form of osteogenesis imperfecta. In children, good-quality collagen is produced, but in too little amount. This causes brittleness and brittleness. Fractures usually appear as a result of minor injuries, e.g. a broken tooth and the formation of a cavity in it.

2. Typ 2 OI – is the most severe form of osteogenesis imperfecta, which is fatal. In this case, the baby’s body produces a small amount of poor-quality collagen. Babies born with type 2 Ol often have deformed ribs, a narrowed chest, or underdeveloped lungs. Usually, the baby dies in the womb or right after it is born.

3. Typ 3 OI – is a severe form of osteogenesis imperfecta, where the body produces low-quality (although in adequate amounts) collagen. Bone fragility appears in the prenatal stage. The distortions worsen as the child grows.

4. Typ 4 OI – in this form of the disease, the symptoms can be both mild and severe; the body produces enough collagen, but of poor quality. Children with this type of osteogenesis imperfecta are often born with crooked legs.

Is a congenital fragility always associated with a poor prognosis?

Abnormalities in the formation of collagen may occur at various stages, therefore the disease may proceed in different ways. The most common form is type I – mild. The child may be perfectly normal in height and the bones may only show a slight fracture tendency. Only early hearing loss can be a serious problem. Again, type II – the most severe – is a lethal form, i.e. one in which the sick child has no chance of survival and dies in the womb (in the mother’s womb) or shortly after birth.

Diagnosis of osteogenesis imperfecta

The diagnosis of congenital brittleness is based on a medical examination of the child, biochemical examination of collagen and molecular tests, thanks to which it is possible to diagnose a defect in the genes. Since the disease is inherited and may affect different family members, it is very important to determine who or who may be sick in the family. Families with osteogenesis imperfecta have the right to genetic counseling, which can be important when planning a pregnancy. X-ray examinations of the bones are also used, which show both current and past bone fractures. In turn, thanks to laboratory tests, it is possible to analyze the structure of the child’s collagen.

Can Prenatal Testing Help?

Currently, the disease can be detected in the womb during the ultrasound examination performed in a woman in the 11th – 13th week of pregnancy. If the disease is suspected later in pregnancy, it is also possible to test for the presence of markers of genetic diseases and to take chorionic villus sampling to assess the structure of collagen. The aforementioned prenatal tests (still in the mother’s womb) give a chance to start treatment early and prevent many of the consequences of the disease.

This is extremely important as there is no miracle cure for this genetically determined disease.

What are the hopes for a cure for osteogenesis imperfecta?

Treatment of people with osteogenesis imperfecta aims to reduce the number of fractures and prevent spinal distortions and minimize pain. In any case, it should be conducted in specialized centers under the supervision of a specialist.

Scientists see some hope in stem cells. These are unique cells that can differentiate into cells with different functions. Perhaps if properly prepared and introduced into the body of a sick child, it would help him to produce proper collagen? There is currently no answer to this question.

While there is no single effective treatment for osteogenesis imperfecta, there are some treatments that can significantly reduce the risk of bone fractures and, most importantly, improve the patient’s quality of life.

Treatment of osteogenesis imperfecta

Symptomatic treatment is:

1. fracture prevention and treatment (dressing broken bones),
2. gentle exercises to help build bones,
3. neurological care,
4. rehabilitation rehabilitation, thanks to which the child may become more agile; physical therapy to increase the strength of the child’s muscles,
5. pain relief with preparations,
6. use of medications and diet to help strengthen bones,
7. psychological counseling (acceptance of the appearance of one’s own body),
8. reconstructive surgery aimed at correcting bone deformation,
9. placing rods in the bones to strengthen them.

In order to support the bones, it is worth taking preparations with vitamin K. At Medonet Market you can order, among others Monolipid K – a supplement that is sufficient for a month of treatment.

Drug treatment of osteogenesis imperfecta is based on ingestion bisphosphonates. In addition, attempts have been made to treat the disease with bone marrow transplant. However, animal studies using gene therapy are still ongoing. However, before this method can be used, a series of studies on its safety and effectiveness are necessary.

Is it possible to cure osteogenesis imperfecta completely?

Unfortunately, this is not possible. However, thanks to the selection of the appropriate treatment, it is possible to improve the patient’s quality of life and improve their daily functioning. As mentioned above, the prognosis depends on the form of osteogenesis imperfecta, e.g. in a mild form they are an idea and life expectancy remains unchanged. Conversely, patients with moderate or severe disease are at increased risk of death.

Also read: Bones don’t like computers

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