What is osteogenesis imperfecta, also known as brittle bone disease?

Bone health is and should be an important aspect of life. There are many bone disorders, and among them is osteogenesis imperfecta, whose main symptom is bone fragility causing multiple recurrent fractures, bone deformity and short stature.

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According to Dr Sheetal Sharda, clinical geneticist and director of genomics division, Neuberg Centre for Genomic Medicine (NCGM), in this disease low bone mineral density is observed, and extra-skeletal manifestations such as bluish colouration of the eyes, abnormal tooth development and hearing impairment can also be present.

“This rare hereditary bone fragility disorder is caused by collagen mutations in around 90 per cent of cases. In severe cases, this condition can also occur before birth. In mild cases, few fractures are seen in an individual in their entire lifetime, while in moderate cases, the person may have hundreds of fractures,” the doctor says.

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She adds that the disease is identified in around 22 different forms, and may not always be distinguished based Genetic testing is necessary to diagnose and describe rarer forms of osteogenesis imperfecta (OI).

“Some forms are so severe, an individual’s mobility may get affected and they may have to use a walker or wheelchair. Sometimes an individual diagnosed with severe OI would have underdeveloped lungs with a small and fragile rib cage. Babies born with severe OI often have life-threatening breathing problems and survive only for a short period,” says Dr Sharda.

According to her, other types of mild to moderate OI are medically and surgically manageable. Babies born with mild types can live healthy lives. Unlike more severely affected patients, people with mild OI gain near to normal height with full functional capacity.

Monitoring options

* Screening to detect hearing loss
* Regular dental care consultation
* Pulmonary function tests
* Baseline echocardiogram
* Serial screening for scoliosis to improve the quality of life of individuals with OI

“Treatment aims to control symptoms, maintain individual mobility, and strengthen bone and muscle. Attention to nutrition and overall physical and psychological well-being is also significant,” says the expert, adding that currently there is no cure for OI except for managing fractures and complications. If anyone has OI or if there is a family history, one must opt for  genetic testing.

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