Osteogenesis Imperfecta: Treatment, Procedure, Cost and Side Effects

Brittle bone disease

Lobstein syndrome

Fragilitas ossium

Vrolik disease

Osteogenesis imperfecta is a very rare group of genetic disorder that affects the bones. This disease makes the bones brittle and breaks easily without any cause.

People who have this disease are born with either defective connective tissue or the inability to make it due to defective genes. It affects collagen production which is the protein found in the connective tissue responsible for bone strengthening. There are IX types of the disease I being mild and IX being lethal.

The symptoms too can vary from mild to severe. The major sign of osteogenesis imperfecta is frequent fractures. Other symptoms include loose joints, deformed bones loss of hearing, breathing issues and teeth problems. Osteogenesis imperfecta can be confirmed through DNA or collagen testing.

Since, it is a genetic disorder; there is no cure for it. Healthy lifestyle choices like exercising and avoiding smoking can help prevent fractures. Painkillers, braces and proper care for fractured bones are useful. Bone infections can be healed with the use of antibiotics and antiseptics.

Apart from these, there are several treatments which help people with different stages of the disease. They include bone strengthening medication and dietary supplements, physiotherapy and orthopaedic surgery.

Treatment for osteogenesis imperfecta is done to manage the symptoms of this disease as there is no cure for it. The main objective of all treatment for this disease is minimizing fractures, pain reduction, enhancing independent function and promotion of general health.

Adults and children who have this disease will require medications such as IV and oral bisphosphonates like alendronate, teriparatide or other drugs for maintaining bone mass. The doctor will also provide vitamin D and calcium supplements if they do not get enough from their regular diet.

Surgery will be needed to repair broken bones, stabilize the spine and correct bone deformities for severe cases. The various surgical methods include joint replacement, fracture repair and rod repair for the ones who have severe osteogenesis imperfecta. Many children undergo rod positioning which is a type of surgery where metal rods are inserted into the long bones to provide support and facilitate growth.

The ones who have this disease need regular monitoring of muscle pain changes, bone and muscle strength and lax joints.

Taking care of fractured bones is crucial for avoiding deformed bones. Acute immobility after a fracture may cause the bones to become more brittle and reduce muscles. It is recommended to address pain and manage it, wear a proper splint and slowly move muscles.

A person is eligible for starting treatment for Osteogenesis Imperfecta if they show symptoms such as: bone deformity, several fractures due to no reason, teeth problems, loose joints, breathing problems, loss of muscle tone, easy bruising, fatigue, blue color in the whiten portion of the eye, temperature sensitivity and loss of hearing. The disease will be confirmed through DNA or collagen testing.

A person will not be eligible for treatment if they do not show symptoms of the disease or show common symptoms of other diseases. Sometimes children suspected to have Osteogenesis Imperfecta due to repetitive fracture may either be a victim of domestic violence or have a vitamin D deficiency which can be corrected by adding foods rich in vitamin D and calcium.

The side effects of the medicines used for the treatment of Osteogenesis Imperfecta are mild and absent in many patients. People taking alendronate or risedronate might have gastric discomfort, a burning sensation in the esophagus and other gastric disturbances. Other problems reported include muscle pain, severe headaches, and eye irritation. Recent evidence has associated bisphonates with birth defects if consumed at the time of conception or during pregnancy.

Some of the post-treatment guidelines include maintaining a healthy diet rich in vitamin D and calcium, regular exercise and avoiding caffeine and smoking. You must avoid bone fracture and take precautionary measures depending on the severity of your condition. Follow the instructions given by the doctor and do not exert too much pressure on your bones. People who have this disease generally lead a normal life with few restrictions.

The different orthopaedic surgeries need minimum 3 months for full recovery. Precautionary measures should be taken to avoid post-surgical mishaps. Immobility can cause acute pain and weakened bones which can be avoided with exercise.

The revised price range as per the latest Government guidelines for joint replacement surgery is Rs 54, 20- Rs 76,600.

Oral bisphosphonates like alendronate, teriparatide cost Rs 115.60 in India and Rs 1,259- Rs 2774 vitamin D supplements.

The result of joint replacement surgery is usually permanent. However, complications may arise if you do not take proper post-surgical care. A healthy diet and light to moderate physical exercise are recommended. Oral bisphosphonates have a long-term effect on increasing bone mass. Vitamin D and calcium supplements help strengthen bones but it is advisable to not continue them for a prolonged period of time and instead consume a diet rich in vitamin D and calcium.