Complications
Patients with OI have a higher risk of death from respiratory diseases and trauma, and are prone to develop restrictive respiratory conditions.[11][44][45][46][47][48]
Pulmonary involvement can be significant, and respiratory failure is the main cause of premature death in patients with OI.
Individualised surveillance for pulmonary health may be performed by a pulmonologist, based on OI severity and the presence of pulmonary symptoms.[45]
Advise all patients with moderate to severe OI to have pneumococcal vaccination and annual influenza vaccination, as individuals with severe OI typically have compromised lung function. Note that many countries, including the US and the UK, offer all children influenza and pneumococcal vaccinations as a part of routine childhood vaccination schedules.
Approximately 50% of people with OI develop hearing loss during adulthood and the prevalence of hearing loss increases with age.[40][41][43]
It is recommended, based on experience in practice, that:
Baseline audiology evaluation is performed in all patients at diagnosis; the frequency of further audiological evaluations should be based on the severity of hearing loss, with particular consideration given to the impact of hearing loss on quality of life for the patient.
Hearing evaluation is performed in children with OI before they start school and repeated every 3 years; annual evaluation should be carried out if abnormalities in hearing are detected.
Children with issues with speech, recurrent ear infections, or whose parents suspect a hearing loss should have a formal audiological assessment regardless of age.
Adults with reported hearing loss should have annual testing and follow-up appointments similar to the schedule for children.
Adults experiencing tinnitus (ringing in the ear) or symptoms of hearing loss should also have an audiological assessment to determine if hearing loss is conductive or sensorineural.
Adults with identified hearing loss should have regular ENT/audiology follow-up and should be reviewed if hearing changes.
Provide all patients with OI advice regarding ear protection (such as use of ear plugs or ear muffs in situations where environmental noise may be high, and controlling volume on devices that send sound directly to the ear) to defer or minimise hearing loss wherever possible.
Consider the use of hearing aids in all patients of all age groups with hearing loss, as many patients are well compensated by hearing aids in the first instance.[5]
Consider surgical procedures such as stapedectomy or cochlear implant in people with severe, conductive progressive hearing loss in whom hearing aids are ineffective.[85]
Pain is a frequently reported symptom in OI and may have a significant impact on quality of life. In one cross-sectional study of 418 adults with OI, 83% reported experiencing frequent episodes of pain.[94]
Patients with OI should be assessed for pain symptoms at regular intervals during follow-up and referral to appropriate pain management services should be considered if symptoms are not adequately managed or worsen.
Patients with OI have an increased risk of cardiovascular disease, including aortic regurgitation, mitral valve regurgitation, atrial fibrillation/flutter, and heart failure.[50]
Individualised surveillance for cardiac health may be performed by a cardiologist, e.g., with echocardiography, based on OI severity and the presence of signs and symptoms indicative of cardiovascular disease.[45]
Patients with OI have a higher risk of death due to trauma (deaths associated with fractures).[44]
One study of 959 adults with OI noted that 64% self-reported a history of fractures.[28] A Danish population-based cohort study demonstrated that the risk of fracture in adults with OI aged between 20 and 54 years was almost 6 times higher than that of the general population.[31]
Methods to reduce fracture-related trauma include:
Provision of information to patients, family members, carers, and healthcare providers regarding safe handling techniques to reduce the risk of fractures.[27]
Encouraging patients to be as physically active as possible to improve bone strength, while avoiding physical activities associated with increased risk of falls or fractures.[27]
Bisphosphonate therapy which may reduce risk of fracture.
Advising patients to avoid smoking and excessive alcohol consumption (where relevant).
Avoidance of medications that adversely affect bone metabolism, such as corticosteroids, wherever possible.
Encouragement of adequate calcium and vitamin D intake in all patients, with supplementation as required, to ensure the recommended daily intake of calcium and vitamin D is achieved.[65]
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