Best Osteogenesis Imperfecta Doctors in Kolkata

Osteogenesis imperfecta (OI) is a rare genetic condition characterised by extremely fragile bones that break easily. It affects both children and adults, varying widely in severity among individuals. In this disorder, the body either produces poor-quality collagen or insufficient amounts of collagen, leading to excessively brittle bones and frequent fractures. Mutations in genes responsible for collagen production are the underlying cause of this condition.

Kolkata has its share of osteogenesis imperfecta cases. However, with doctors treating osteogenesis imperfecta available at Apollo Hospitals in this city, managing this condition has become more feasible.

Types/Stages of Osteogenesis Imperfecta

Osteogenesis imperfecta can manifest in several forms:

• Type I: This is the mildest form, characterised by frequent but relatively mild fractures, normal or near-normal stature, and minimal bone deformities.

• Type II: This is the most severe form, often lethal in the perinatal period, due to multiple fractures, severe bone deformities, and respiratory issues.

• Type III: This severe form is characterised by significant bone deformities, short stature, and fractures often occurring before birth or during infancy.

• Type IV: This is a moderate to severe form with noticeable bone deformities, frequent fractures, and short stature.

Symptoms of Osteogenesis Imperfecta

The symptoms associated with osteogenesis imperfecta can vary widely based on the severity of the condition:

• Frequent fractures, often with minimal trauma

• Bone deformities such as bowed legs or arms

• Short stature

• Loose joints and hypermobility

• Hearing loss (due to abnormalities in the bones of the inner ear)

• Blue or grey tint to the sclera (whites of the eyes)

Tests to Diagnose Osteogenesis Imperfecta

The doctors specialising in osteogenesis imperfecta treatment use various diagnostic methods, including:

• Clinical Evaluation: A comprehensive medical history and physical examination are performed to identify signs of OI, such as blue sclera, bone deformities, and frequent fractures.

• Imaging Studies: X-rays are used to evaluate bone density, detect fractures, and assess bone deformities. Additional imaging, like bone density scans (DEXA), may be employed to measure bone mineral density.

• Genetic Testing: This is conducted to confirm the diagnosis by identifying mutations in the COL1A1 or COL1A2 genes responsible for OI.

Treatment or Surgery Options for Osteogenesis Imperfecta at Apollo Hospitals, Kolkata

The best doctors for osteogenesis imperfecta at Apollo Hospitals in Kolkata offer tailored approaches to meet individual patient needs, including:

• Orthopaedic Care: Comprehensive management of fractures, orthopaedic surgeries such as intramedullary rodding to strengthen long bones, and the provision of orthotic devices help to support and protect bones.

• Physical Therapy and Rehabilitation: Personalised exercise programmes are designed to improve muscle strength, joint flexibility, and overall mobility.

• Pain Management: This includes alleviating chronic pain through medications (such as analgesics and anti-inflammatory drugs), nerve blocks, physical therapy techniques, and psychological interventions such as cognitive-behavioral therapy.

• Genetic Counseling: This encompasses providing information and support to individuals and families affected by osteogenesis imperfecta.

Individuals can also consult surgeons treating osteogenesis imperfecta at Apollo Hospitals in Kolkata to develop a personalised care plan.