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OI Diagnosis

How is OI Diagnosed

OI is usually diagnosed due tof family history and/or clinical observation. In most cases, OI will be detected early on in a child’s life as a result of the child having several fractures.

In addition to this, some key clinical observations may be present such as:

Blue Sclerae (whites of the eyes) – this is a characteristic feature of OI Type 1 but is not present in all forms of OI.

Opalescent teeth – Opalescence refers to the optical property of tooth enamel that gives teeth their bluish colour when reflected light hits them, and an orange colour when light passes through them, again this is not always present in all types of OI

Family history – understanding family history is a step in diagnosing OI, however in many cases, there may be no family history of OI.

Blood tests – taken to measure the level of calcium, phosphorus and an enzyme called serum alkaline phosphate (SAP). It is also used to exclude other causes of osteoporosis.

Urine tests – these tests are undertaken to determine the level of bone breakdown and bone turnover.

X-rays – a skull x-ray may indicate the presence of Wormian bones, which are extra bones in the skull of many OI patients.

Bone density is also used to identify OI in patients. This is usually done using a special X-ray machine called a DEXA scan.

Genetic testing – This can also be undertaken to analyse the particular genes that cause OI however, in most cases this is not conducted due to both the expense and time consuming nature of doing these tests.

Introduction to Bone Fragility syndromes
A new Dyadic Naming System for OI and Bone Fragility syndromes
Bone fragility is shared with many other rare disorders
Digenic Inheritance of OI and Bone Fragility in some families
Recognising Sex-Linked inheritance and its consequence for families
Multidisciplinary Care Clinics have revolutionized care of people with OI.

Read moreabout Osteogenesis Imperfecta And Bone Fragility in 2024

Osteogenesis Imperfecta (OI) means “bones formed imperfectly”. It is a genetic condition that someone is born with and will always carry throughout their life. It primarily affects the bones, causing them to be fragile.

Read moreabout Osteogenesis Imperfecta Explained

Osteogenesis imperfecta (OI) is the result of a mutation in one of the two genes that carry instructions for making type 1 collagen (the major protein in bone and skin). Collagen is the major protein of the body’s connective tissue and can be likened to the framework around which a building is constructed. In OI, a person has either less collagen than normal, or a poorer quality of collagen than normal, leading to weak bones that fracture easily.

Read moreabout Causes

OI is treated primarily by managing fractures and promoting as much mobility and independence as possible. Prolonged immobility can further weaken bones and lead to muscle loss, weakness, and more fractures. Many orthopedists prefer to treat fractures with short-term immobilization in lightweight casts, splints, or braces to allow some movement as soon as possible after the fracture.

Read moreabout Research and Treatments

What is a fracture?

A fracture is a break in the bone or cartilage. It usually is a result of trauma.

It can, however, be a result of disease of the bone that leads to weakening, such as osteoporosis, or abnormal formation of the bone from congenital diseases at birth, such as osteogenesis imperfecta.

Read moreabout Types of Fractures

Welcome to our glossary of medical terms! This guide is designed to help you easily understand common phrases, terminology, and lingo used throughout our website. We know that medical language can sometimes be confusing, so we've created this resource to provide clear, simple definitions to help you navigate the content with confidence. We hope you find this glossary helpful.

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