Bone disease in patients with haemophilia A and B – where are we now?

Abstract

It is evident that haemophilia A and B are associated with decreased bone mass in both adults and children. Decreased physical activity and vitamin D deficiency are some of the major factors leading to bone loss. Hepatitis C virus (HCV) infection may also contribute to low bone mineral density (BMD). However, definite conclusions regarding the exact prevalence and pathogenesis of osteoporosis cannot be conducted yet, due to the small sample size and significant heterogeneity among studies. Discordant findings with regard to the skeletal site of low BMD have also been reported. Furthermore, data on fracture risk are sparse. The use of the Fracture Risk Assessment Tool (FRAX) for assessing fracture risk, regular BMD assessment at the age of 25 and thereafter, careful evaluation of risk factors associated with bone loss and optimal calcium and vitamin D intake are recommended. Long-term prophylactic factor replacement therapy, resistance exercise and bisphosphonates, in severe cases of increased fracture risk, can prevent bone loss.

Vitamin D deficiency and osteoporosis in hemophilic children

“…These differences may be partially attributed to the high prevalence of vitamin D deficiency worldwide [22] and small sample size [23].…”

“…The attainment of optimum calcium intake and adequate vitamin D is significant [23]. El-Hajj et al [33] reported that a high dose of 2000 IU/day of vitamin D supplementation for 1 year increased bone area and bone mass in children.…”

“…Bone loss and joint damage can be prevented by longterm prophylactic factor replacement therapy, particularly in severe hemophilia and resistance exercise [23].…”

Premature changes in trabecular and cortical microarchitecture result in decreased bone strength in hemophilia

“…[3][4][5] Although low BMD is well described in PWH, data remains limited on fracture risk, with case series reporting fracture prevalence of 12% to 18%. [6][7][8] Osteoporosis is a pathologic bone disorder characterized by low BMD and microarchitectural bone disruption that results in increased risk for fracture. 9 The majority of studies investigating BMD in males with hemophilia have used areal BMD measurement by dual X-ray absorptiometry, which is unable to account for geometric differences affecting true volumetric BMD.…”

The Role of Angiogenesis in Haemophilic Arthropathy: Where Do We Stand and Where Are We Going?

“…This condition is known as haemophilic arthropathy or haemophilic joint disease (HJD) and it has a progressively negative impact on patients’ quality of life. Haemophilia is found to be associated with decreased bone mass in both adults and children [2]. Haemarthrosis, formed after repeated joint bleeds, could be prevented by providing prophylaxis to these patients by means of administering the missing CF from an early age and in a standard regimen.…”