Osteogenesis Imperfecta - Fragile Bones
Published: 24 January 2019
Published: 24 January 2019
Due to its rarity, this can often mean that many nurses and other health professionals may have limited awareness, understanding and experience when caring for individuals with this condition (The OI Society of Australia 2019; Palomo et al. 2015).
There are five main types of OI which range from mild to severe, with the mildest form of OI also being the most common. There are also many subgroups of these types.
Type 1 OI is the mildest form of OI, and may not be diagnosed until later in life, whereas the more severe types of OI can cause infant death during or shortly after birth, often by respiratory failure.
The 5 types of OI can be classified as follows:
OI Type 1: non-deforming OI with blue sclerae
OI Type 2: Perinatally lethal OI syndromes
OI Type 3: Progressively deforming OI
OI Type 4: Common variable OI
OI Type 5: OI with calcification in interosseous membranes
(The OI Society of Australia 2019; Van Dijk & Sillence 2014)
The severity grading of each relies on assessing the individual’s clinical data, historical data, the frequency of their fractures, bone density and their level of mobility. Statistically, however, approximately only 7 people per 100,000 people are born with any type of OI (The OI Society of Australia 2019; US National Library of Medicine 2018; Van Dijk & Sillence 2014).
OI is caused by a mutation in one of the two genes that produce collagen. It causes the person to have either a decreased amount of collagen or poorer quality collagen, which then causes their bones to be weak and consequently fracture more easily.
The mutated gene can be inherited from one or both parents or can be the result of a new and random mutation. It is important to note that parents of a child with OI often will not display OI themselves (The OI Society of Australia 2019; Van Dijk & Sillence 2014).
Diagnosis occurs as a result of investigations being undertaken due to a child having frequent multiple fractures. As well as fractures, diagnostic signs, symptoms and consequent tests include:
(The OI Society of Australia 2019)
People with OI will often be of short stature, have blue tinted sclerae, some form of hearing loss, brittle teeth, muscle weakness, hypermobility and potentially progressive skeletal deformity and restricted breathing.
Many of them will also be diagnosed with osteoporosis. There can also be cardiovascular effects related to OI, which are usually reported in adults rather than children. These may include forms of valve dysfunction and aortic root dilation.
Another implication for adults over 40 years of age with OI is that more than 50% of sufferers will also have some form of hearing impairment. Experiences of vertigo can also be quite common (The OI Society of Australia 2019; Palomo et al. 2015; Van Dijk & Sillence 2014).
Nursing considerations for individuals with OI need to include not only the connective tissue and bone deformities characterised by this condition but also the consequential effects of the condition, such as vertigo.
Pain is also often present in individuals with OI and when uncontrolled, can negatively impact the individual’s quality of life.
It is important to note that depending on which type of OI the individual has, they may experience different symptoms to an individual with another type. There will be many common variables between the types, although some symptoms are more common in certain types of OI then others.
Therefore, if you are a nurse caring for someone with OI, it is important to determine which type of OI they have and what symptoms they display, as everyone can be affected by different symptoms of this condition (US National Library of Medicine 2018; Van Dijk & Sillence 2014).
As a genetic condition, OI will often affect many of the body systems and cannot be cured. Therefore treatment is aimed to manage some of the associated signs and symptoms.
One of these treatments includes intravenous bisphosphonate therapy which will help treat bone fragility and can increase bone density and decrease the fracture rates of the long bones in children with OI. (Palomo et al. 2015; US National Library of Medicine 2018).
The implementation of management strategies for individuals with OI is also an important part of treatment. Therefore, the nurses’ role needs to not only focus on assisting with treatment strategies but also management strategies in areas such as pain, mobility, hearing impairment and any modifications to maintain the individuals quality of life with this condition.