Anyone who has never watched the movie Unbreakable, known as Corpo Fechado in Portuguese, based on comics and starring Samuel L. Jackson and Bruce Willis, doesn’t know the best action movie ever made on the topic. It tells the story of a man with brittle bone disease, osteogenesis imperfecta, and on the other extreme, an immortal and invincible man. But the disease is not just fiction, it is real and unfortunately affects both children and adults. Rare, it impacts bone structure—brittle bone disease makes bones fragile and prone to breaking from birth or after a certain age. Brittle bone disease can manifest in three forms:
Type 1: The most common form of the disease, which appears later in life, around 20 to 30 years of age. It starts with a simple loss of bone mass and, consequently, bone strength, making them break easily.
Type 2: The most severe and serious form of the disease because it is congenital, and the child may not survive the fractures still inside the womb and may pass away. If the birth occurs, it can be accompanied by multiple fractures throughout the body, often requiring procedures immediately after birth.
Type 3: This form of the disease causes bone deformities due to direct fractures. The bones become curved and those who have the disease end up with serious aftereffects from these deformities, which can even limit walking and movement. These bone deformities also cause pain that needs extremely strong painkillers to manage.
Type 4: Type 4 of the disease results in deformities of the long bones such as arms and legs, along with severe abnormalities in the spinal column and vertebrae.
Brittle bones or osteogenesis imperfecta is a congenital disease.Osteogenesis imperfecta or brittle bone disease is a genetic disease, even if the child’s or individual’s DNA does not have the gene, it is acquired only in this way. It brings to the patient a significant deficiency in the body’s production of collagen and the proteins that process it. This lack of collagen is what causes the extreme fragility of the bones, especially the largest bones, which should be the strongest.
Most brittle bone fractures occur in the arms and legs due to falls, bumps, and recurring traumas from daily activities. This disease limits the child born with this condition and also requires the whole family to help make the child’s life safer and as “normal” as possible. In addition to all the pain and fractures, the disease causes further complications, such as bluish teeth and mouth, square face, hearing loss, and in more severe cases, compression of the lungs and heart.
How to Diagnose Brittle Bone Disease and Treatments
Brittle bone disease is diagnosed through several steps, usually an X-ray and bone densitometry can detect bone fragility in a child. A clinical examination can help doctors confirm the diagnosis. A child may have the disease and show no sign of it in their DNA, which is very common among those affected. They may simply have brittle bone disease.
Unfortunately, brittle bone disease has no cure, but it can be treated. Treatment can relieve pain and also reduce bone fragility. Medicinal treatment for this disease is based on disodium pamidronate and zoledronic acid (bisphosphonates). Both medicines are very expensive, but the Brazilian public health system (SUS) provides them for children or individuals with the disease. However, a child with brittle bone disease also needs follow-up with physical therapists, surgical interventions, and constant clinical supervision.
Recently, a technique was developed in which metal plates are implanted along the bones to support correct growth of the long bones, the most affected by brittle bone disease. The surgery to insert these plates must be performed on children around 5, 6 up to a maximum of 8 years old. This surgery is not covered by the public health system, so only those with private insurance or the means to pay for it can benefit from this new treatment.
Life with brittle bone disease is a life full of care, but quality of life has improved with each passing day…
See also: What is Craniosynostosis and What is the Treatment?
Photo: El Mnopo
