Crystal bones: causes and treatment

Osteogenesis imperfecta has its main origin in an abnormality in the genes that establish the production and formation of type 1 collagen, which makes up 90% of the total collagen in the body, forming part of structures such as bones, tendons, muscles, skin. , intervertebral discs, and the cornea, it is also essential to provide flexibility and stretch to the body.

Likewise, an abnormality in the CRTAP or LEPRE1 genes may be the origin of this disease, since they are associated with the production of cartilage and in the process of some types of collagen, so their deficit prevents the proper development of bone tissue. .

For this reason, it is a disease that you are born with, that is, the cause of crystal bones is a defective gene that is inherited from one or both parents even though neither of them has developed it, as long as there is a family history of this condition. there is a probability that it will be expressed in a generation later. However, the development of osteogenesis imperfecta can also be due to a spontaneous mutation, being the first family record.

Depending on which or which of the 4 genes that establish the production of collagen present the mutation, they can give rise to one of the 8 types of crystal bone disease, although types 5 to 8 are very rare cases, being the most frequent :

• Type 1: Corresponds to the form with the least problems, since collagen is processed correctly but its quantity does not meet the body’s demand. Fractures can occur from minor trauma in children, while in adults they are less common. Their quality of life is good and they usually live the normal number of years.
• Type 2: It is the most serious variety of the disease, the baby dies in the womb or after delivery. Both the quality and the production of collagen in the body are deficient, leading to bone malformations that impede vital functions, for example, underdeveloped lungs.
• Type 3: Although it is a serious condition, the death rate is not total. In this case, the amount of collagen can meet the needs of the body, but its quality is not good. The baby can be born with bone deformities that will cause more problems as they grow and suffer from constant fractures, even during pregnancy.
• Type 4: It is less serious than type 3 and in many cases there is a normal life expectancy . Collagen in the body is formed in sufficient quantity but of low quality, producing variable symptoms, that is, some may be more problematic than others. Babies are mostly born with bow legs, and although this problem may lessen as you grow older, you may need to use crutches during the process.

The main symptom of osteogenesis imperfecta is the fragility of the bones, whose degree of affectation can vary according to what type of this pathology is presented, in some cases a slight trauma could cause a serious fracture. Likewise, there are other symptoms that could accompany this characteristic, it also depends on the severity of the crystal bone disease, among them are:

• Brittle teeth with abnormal development.
• Triangular shaped face.
• Weak muscles
• Joints lacking stiffness.
• Bone malformations, especially in the extremities and chest, causing respiratory and heart problems.
• Scoliosis , when the spine deviates to one side forming a curvature.
• Kyphosis, the spine curves outward at the top, giving the appearance of a hump.
• Short stature.
• Continuous bruising
• White membrane of the eyes turns bluish or gray.
• Progressive hearing loss, usually in early adulthood.
• Constipation.
• Excessive sweating

After diagnosing osteogenesis imperfecta using X-rays, observing any existing fractures and bone defects, a skin sample to analyze collagen and a genetic analysis if necessary, your doctor can give you the treatment that best suits your condition.

As it is a disease of congenital origin, there is no way to eliminate it , so the treatment consists of alleviating the symptoms, correcting some deformations and strengthening the structures of the bone tissue, in addition to other necessary care.

• To start the recovery it is important to go to physiotherapy , where with the help of the specialist exercises are performed to strengthen the bones and muscles, helping that bone mass is not lost and it is less prone to fractures. Likewise, the physical recommendations should be followed after immobilization for any breakage and not worsen the condition.
• On the other hand, the doctor could recommend the use of drugs belonging to the group of bisphosphonates to mainly avoid the decrease in bone mass and that the number of fractures is reduced. Its administration can be oral or intravenous, as the professional considers the best option.
• The doctor can also analyze whether it is possible to correct any bone structure, usually the limbs that are bowed. For this, the surgical intervention known as osteotomy is necessary , in which special rods or nails are placed, as the case may be, in the affected bones and in this way achieve the alignment of the structure and provide greater mechanical resistance, thus reducing the deformity progressive and improve walking if it is in the legs.

This article is merely informative, at FastlyHeal .com we do not have the power to prescribe medical treatments or make any type of diagnosis. We invite you to see a doctor in the case of presenting any type of condition or discomfort.

If you want to read more articles similar to Crystal Bones: Causes and Treatment , we recommend that you enter our Bones, Joints and Muscles category .