Current Hemophilia Guidelines Inadequate for Musculoskeletal Health Management

Ayse Zengin, PhD

A new review of current hemophilia guidelines found all contained inadequate recommendations for osteoporosis management and fall prevention in patients with hemophilia (PWH) due to a lack of evidence in the literature.

Earlier diagnosis and treatment of osteoporosis in PWH is important, as fracturess have been linked to significant morbidity and mortality.

“Determining the effectiveness of screening programmes and anti-osteoporosis treatment in adults and children with hemophilia will improve the management of musculoskeletal health in PWH,” wrote study author Ayse Zengin, PhD, Department of Medicine, School of Clinical Sciences, Monash University.

Given the low bone mineral density (BMD) and increased fracture prevalence in PWH, there is importance for physicians to screen, diagnose, and treat these patients for osteoporosis. The current study reviewed recent hemophilia guidelines regarding the musculoskeletal management of patient care.

Investigators performed a search using Ovid MEDLINE to identify the most current hemophilia guidelines, limiting them to the past 10 years. Inclusion criteria included recent general hemophilia guidelines from any country in the English language containing a section on osteoporosis and/or fall prevention.

The search ultimately yielded 3 guidelines including the 2020 British, 2020 World Federation of Hemophilia (WFH), and 2016 Australian Hemophilia Guidelines.

The WFH guidelines portray uncertainty around whether all PWH need routine screening for osteoporosis, but do suggest screening may be appropriate for those who are at high risk or have multiple clinical risk factors for osteoporosis.

British guidelines only recommend regular osteoporosis screening for PWH on antiretrovirals and state that the fracture risk assessment tool can be used for guidance. Australian guidance recommend screening according to local guidelines, wherein a risk assessment should be conducted in post-menopausal women and men >50 years with ≥1 major risk factor for minimal trauma fractures.

According to the data, the majority of fractures in PWH were found to have occurred much earlier than the general population, with 81% occurring below the ages of 50 years. Moreover, evidence has shown that fracture prevalence increases with the severity of hemophilia, as data show fracture risk is 44% higher in those with severe disease, compared to mild-moderate disease.

As such, current guidelines on osteoporosis screening and diagnosis remain inadequate due to limited data available to provide improved evidence-based recommendations.

Further, guidelines from the WFH state that anti-osteoporosis medication should be commenced in PWH with osteoporosis, minimal trauma fractures or high fracture risk and additionally commence bisphosphonates if appropriate. However, British guidelines do not advise on specific anti-osteoporosis medication.

Although anti-osteoporosis medications have been effective in improving BMD and subsequently, mortality risk reduction, it has yet to be assessed whether treatment benefits are seen in PWH.

Moreover, fall prevention is not specifically addressed in any of the guidelines. Both the Australian and WFH guidelines recommend that PWH have a team of musculoskeletal specialists and undergo an assessment annually for adults and every 6 months for children.

Investigators in the current study noted falls are a major contributor to fractures in PWH, thus guidelines should include a section on fall prevention. Data show that 53 - 81% of fractures in PWH are due to a fall from a standing height or less, with the annual falls prevalence being 32-50% in PWH.

“Further studies are required to assess the trajectory of bone health in PWH, the mechanism of bone loss in PWH, and the effectiveness of weight-bearing exercises, interventions for fall prevention, screening programmes, and use of anti- osteoporosis medications in PWH across the lifecourse,” Zengin noted.

The study, “Osteoporosis management and falls prevention in patients with hemophilia: Review of hemophilia guidelines,” was published in Haemophilia.