Friends, many young Indians have started developing BRITTLE BONES. There are mainly two types of brittle bones.
Osteogenesis Imperfecta (OI) is an inherited (genetic) bone disorder that is present at birth. It is also known as brittle bone disease. A child born with OI may have soft bones that break (fracture) easily, bones that are not formed normally. It is a life long condition.
Then there is another form of brittle bones, Osteoporosis. In this condition, the bone becomes so brittle that a fall or even mild stresses such as bending over or coughing can cause a break. Osteoporosis-related breaks most commonly occur in the hip, waist, or spine.
In today’s blog, I am writing about OI, and I will cover brittle bones by Osteoporosis in a future blog.
What Happens in Osteogenesis Imperfecta (OI)
Type I collagen is a material in bones that helps make them strong. The defect in genes causes the body to make collagen incorrectly or not make enough, leading to weak bones that break more easily. There is no way to prevent the disease. Type I collagen is also in other connective tissues such as tendon, ligament, lung, and skin, and these tissues can sometimes be affected.
Though anyone can be born with OI, people with family history of the disease are at greater risk of inheriting the disease through an abnormal gene that is passed on from one or both parents.
Types of OI
There are several types of OI, and different classifications are used on the severity of the disease or on the nature of underlying gene defect.
Type I– Bones likely to break from mild to moderate trauma, with most broken bones occurring before puberty; No change or only slight changes to stature with aging; Loose joints and muscle weakness; Blue, purple or gray tint to white of the eyes; Curved spine with potential for compression of the vertebrae with aging; mild bone deformity; Possible changes to the strength and colour of teeth; Possible hearing loss; Normal collagen structure, but less than the normal amount is produced.
Type II– Causes death at birth or shortly after because of inability to breathe; numerous broken bones that develop before birth while the baby is still in the womb; Severe bone deformities; Very small stature; Under developed lungs; Blue, purple or gray tint to white of the eyes; Improperly formed collagen.
There are totally eight types (Type I to type VIII) of OIs, and every type severity of the symptoms increases drastically.
Dominant OI
Most people with OI have dominant form. This means they carry one normal copy and one copy of gene that causes OI. The abnormal copy of the gene is stronger or dominant over the normal copy of gene. This causes the person to have OI. A person with dominant mutation has a 50-percent chance (1 in 2) of passing on the disorder to each of his or her children. Some children with the dominant form of OI inherit a gene that causes OI from parent. While others are born with the dominant form of OI even though there is no family history of the disorder and the mutation occurs in the genome for the first time in family.
Diagnosis of OI
Doctors may diagnose OI by- Asking about family history: Completing a physical exam; Ordering X rays and bone density tests. In addition doctors can also diagnose OI and identify the type of OI with genetic blood test that detects the change in the inherited gene. These tests can detect OI in most people who have it. Sometimes, additional genetic testing may be necessary. People who have genetic testing should see a specialist or genetic counselor to help them understand test results. A negative genetic test does not rule out an OI diagnosis.
Treatment of OI
There is no cure for OI. The goal of treatment, depending on the type of OI, is to prevent or control symptoms, increase bone mass and muscle strength, and maximize a person’s ability to be independent. These treatments include
Physical or Occupational Therapy– this can help in building muscle strength, how to avoid injuries, Safely perform activities of daily living and recover from broken bones.
Medicines– medicines for bone strengthening and pain medicines to treat pain caused by broken bones and chronic bone pain.
Bone Care– An orthopedic specialist can treat broken bones with cast, splint or brace. Sometimes people need surgery to repair a broken bone.
Mobility Aids– This may help people safely perform daily activities like using Walkers, Canes and Crutches, Braces or prosthetics and wheelchairs.
Oral and Dental Care– some people with OI have teeth that easily chip or break; Changes in tooth colour and shape; Tooth decay; Small jaw size; and Incorrect position of teeth. Regular dental check ups and care are important to prevent dental symptoms and improve bite, alignment and appearance of teeth.
Hearing– Doctors recommend hearing testing beginning of childhood, with regular testing throughout person’s life. OI treatment can include- hearing aids; Cochler implants, small electronic devices that have two pieces, one outside behind the ear and another under the skin.
Who treats OI patients
The person suffering with OI may need the services of many doctors like primary care physician, Pediatricians, Clinical geneticist, Endocrinologist for treating bone disorders, Orthopaedists who can perform surgery for bone and joint diseases, Occupational therapists, Physical therapists. Dental providers such as orthodontists and oral-maxillofacial surgeons.
Living with OI
Certain activities can help people with OI stay healthy and prevent broken bones- Follow nutritious diet with enough calcium and vitamin D; Exercise as per doctor recommendations; Keeping healthy weight; Do not smoke and avoid second hand smoke because smoking can also weaken bones; Do not drink a lot of alcohol or caffeine because they may weaken your bones.
Waiting for your feedback on this blog.
Anil Malik
Mumbai, India
25th February 2025