Osteogenesis imperfecta: symptoms, causes and treatment

Definition of osteogenesis imperfecta

What is osteogenesis imperfecta?

Osteogenesis imperfecta (OI), also known as brittle bone disease, is a disorder of the bone structure that makes the bones weak. In other words, the meaning of osteogenesis imperfecta is a bone formation that is not completely formed.

People who have this musculoskeletal disorder indicate that their bones are very fragile and can break with little or no trauma. There are OI sufferers who may experience hundreds of bone damage throughout their life, although there are others who only experience fractures a few times during their life.

This condition causes the life expectancy of each patient to be different, depending on the severity.

Types of Osteogenesis imperfecta

There are about 15 types of brittle bone disease. However, in most cases, the symptoms shown by the sufferer refer to the following types of osteogenesis imperfecta:

1. Type 1

OI type 1 is a condition that is classified as the mildest and most common. People who suffer from this type of condition experience fractures during childhood and adolescence. Damage to the bones is generally caused by trauma or minor injury.

2. Type 2

OI type 2 is the most severe. Generally, this type of sufferers cannot survive long. Even newborn babies or fetuses that are still in the womb are at risk of dying. This condition is caused by the formation of imperfect collagen in the body.

3. Type 3

This type of OI also has relatively severe signs and symptoms. Sufferers tend to have below average height. In addition, sufferers are at risk for other health complications, such as spinal disorders, breathing problems, and brittle teeth.

4. Type 4

This type of OI is similar to type I, but is slightly more severe. Teeth condition and height in sufferers are also problematic. Bone damage that occurs is generally classified as mild to moderate.

Some types or types of OI are also associated with progressive hearing loss, blue or gray spots on the whites of the eyes (sclera), and loosening of the joints.

How common is this disease?

Osteogenesis imperfecta or brittle bone disease is a rare bone disorder. According to the Medline Plus website, osteogenesis imperfecta affects about 1 in 10,000 to 20,000 people worldwide.

Signs & symptoms of osteogenesis imperfecta

Osteogenesis imperfecta is a disease with varying signs and symptoms. Each symptom can give an indication of which type of brittle bone disease you have.

The signs and symptoms that appear will be different for each individual, depending on the severity and type of OI suffered.

The following are signs and symptoms of osteogenesis imperfecta (brittle bone disease) when divided by type.

1. OI type 1

In this type of OI, fractures generally occur during childhood and adolescence. As you grow older, the frequency of fractures will decrease. Some of the signs and symptoms include:

• Bones break easily, occurring before puberty.
• Normal or almost normal stature.
• Experiencing muscle weakness and looseness of the joints.
• The whites of the eyes are usually blue, purple, or gray.
• Have spinal disorders, such as scoliosis.
• Bone defects are absent or occur slightly.

2. OI type 2

People with OI type 2 experience the most severe bone damage. Most babies born with this condition usually do not survive long after birth. In fact, some babies die before they are born.

This condition is generally caused by damaged ribs and incomplete lung development, so that the baby fails to breathe. Common signs and symptoms include:

• The bones appear bent and broken before the baby is born.
• Short arms and legs and hunched body.
• Crooked hips.
• The skull bones are unusually shaped.
• The whites of the eyes are colored.

3. OI type 3

Type 3 OI also has relatively severe signs and symptoms. Fractures can start before birth or early in the baby's growing period. These bone abnormalities tend to get worse over time and can interfere with the ability to walk. Some of the signs and symptoms of this condition are:

• Bones break easily.
• Loose joints and weak muscle development in the arms and legs.
• Ribs can break, which can cause breathing problems.
• The whites of the eyes are blue, purple, or gray.
• Curved spine.
• Bone defects.

4.OI type 4

This type of OI has the most varied severity. The severity can range from mild to severe (between type 1 and type 3).

About 25% of babies born with OI type 4 have a fracture shortly after birth. Some of the signs and symptoms of this type of OI are:

• Bones break easily, usually before puberty.
• Shorter body.
• It wraps up more as you get older.
• The whites of the eyes are white or almost white.
• The spine tends to curve.

When should I see a doctor?

If you or those closest to you experience the above signs and symptoms, immediately visit your doctor or the nearest medical service center. The severe form is most often diagnosed early in life, but mild cases may go unnoticed until late in life.

Causes of osteogenesis imperfecta

The cause of osteogenesis imperfecta (brittle bone disease) is a gene mutation. You have a 50% chance of inheriting the gene and disease from your parents. However, some cases are the result of new genetic mutations.

Osteogenesis imperfecta can be caused by mutations in one of several genes. Mutations in the COL1A1 and COL1A2 genes cause about 90 percent of all OI cases.

In people with OI, the genes in their bodies do not function properly. This gene is responsible for telling the body to produce collagen type 1 protein.

Collagen type 1 is needed in the formation of connective tissue found in bones. In addition, collagen is also important in forming ligaments, teeth, and white tissue on the outside of the eyeball (sclera).

Abnormalities that occur in genes make collagen type 1 production in the body not optimal, either because there is a decrease in quantity or quality. As a result, bones become more brittle and break more easily.

Apart from COL1A1 and COL1A2, the types of genes that mutate can cause brittle bone disease are:

• LEPRE1
• IFITM5
• SERPINF1
• PPIB
• SERPINH1
• FKBP10
• SP7
• BMP1
• TMEM38B
• WNT1
• SPARC

Risk factors for osteogenesis imperfecta

Osteogenesis imperfecta is a disease that can affect anyone, from various age groups and races. However, the risk is higher in people who have family members with brittle bone disease.

Diagnosis & treatment of osteogenesis imperfecta

The information provided is not a substitute for medical advice. ALWAYS consult your doctor for more information.

Osteogenesis imperfecta (brittle bone disease) is a disease that can be diagnosed by a thorough physical examination. An examination can be performed on the eye to check for stains on the sclera.

In addition, the doctor will also ask for a family history of diseases to find out if there are risk factors for heredity. Several additional tests will be performed by the medical team to get a more accurate diagnosis:

1. Test shooting

The doctor will recommend imaging tests, such as X-rays, so that the bone structure can be seen clearly. In addition, the doctor may also perform an ultrasound test on the fetus in the womb who is at risk for this disease.

2. Genetic testing

Test chorionic villus sampling (CVS) can be run during pregnancy to determine if the baby has this condition. However, because several different types of mutations can cause OI, some types of OI cannot be diagnosed by genetic testing.

What are the treatments for osteogenesis imperfecta?

There is no effective treatment and treatment for osteogenesis imperfecta (brittle bone disease) to date. The medical treatment given is aimed at reducing symptoms and improving the patient's quality of life.

More specifically, the ways to treat osteogenesis imperfecta that are usually done are:

1. Handling without surgery

In most cases, OI can be managed without any surgical or surgical procedures. Your doctor may prescribe a bisphosphonate medication, which is commonly used for bone loss or osteoporosis, to reduce pain and bone damage.

In addition, sufferers can also undergo physical therapy, rehabilitation, and installation of assistive devices, such as bracing and casting.

2. Operation

Surgical or surgical procedures will be recommended if the damage continues to occur in the same bone area over and over again, treatment does not show results, and scoliosis develops. The following are the types of surgery for OI:

• Rodding. A stick (rod) metal will be inserted in long bones, such as in the arms and legs. This procedure helps strengthen the bone structure.

• Spinal fusion. This procedure is done by repairing a spine that is damaged, such as scoliosis.

Home remedies for osteogenesis imperfecta

Not only treatment from doctors, people who have brittle bone disease also need care at home. The aim is to support the effectiveness of the current treatment as well as to prevent possible fractures and bone loss (osteoporosis) from occurring.

Therefore, various things that need to be applied by patients with osteogenesis imperfecta are:

Eat foods that are healthy for your bones

In order for bones to stay healthy, you must meet your daily nutritional needs with bone-strengthening foods. Primarily, are vitamin D, calcium and phosphorus. You can get these nutrients from dairy products (milk, cheese, and yogurt), salmon, mackerel, milkfish, eggs, green vegetables, and nuts.

If these nutritional needs cannot be fulfilled through food, supplements can be used as an alternative. However, you must first consult with your doctor before consuming it.

Bask in the morning

Vitamin D is not only obtained from food. The greatest source of vitamin D that you can easily get is sunlight. You can bask in the morning for about 10 minutes every day. However, make sure if the sun is directly on your skin.

Quit smoking and drinking alcohol

Smoking and drinking alcohol can interfere with bone health. Alcohol can also interfere with the effectiveness of the drugs you are currently taking. So, it is highly recommended to stop this habit.

Exercise regularly

Exercise is very important to maintain bone resistance from loss. You can do sports for osteoporosis or bone loss. Make sure you also do this physical activity regularly.

However, consult your doctor first, when is the best time to start exercising. Intense exercise, such as walking, may be a safe choice for people with this bone disorder.

Prevention of osteogenesis imperfecta

Osteogenesis imperfecta (brittle bone disease) is a disease related to genetic problems. Therefore, there is no way you can do to prevent this disease.