Bone metabolism and fracture risk in haemophilia:
a narrative review
Giovanna Daniele, Emerito Carlos Rodriguez-Merchan, Silvia Linari, Lisa Pieri, Stefano Giaretta, Laura Masi,
Luisella Cianferotti, Giancarlo Castaman, Christian Carulli
Purpose: Haemophilia is a rare inherited X-linked bleeding disorder caused by deficient levels of coagulative factor VIII (type A) or IX (type B). Deficiency of these factors may interfere with specific biochemical pathways, leading to increased bone resorption and decreased bone production.
To limit severe complications, fractures in patients with hemophilia should be managed by dedicated teams, from the emergency room to the operating theatre when surgery is indicated. The authors set out to analyze the recent literature on haemophilia, impaired bone metabolism, and fracture risk.
Methods: A narrative review was conducted, searching electronic databases for relevant articles and books published over the past two decades.
Results: 71 articles and book chapters were identified by title and abstract. Of these, 37 original articles and three book chapters met the inclusion and exclusion criteria.
Conclusions: Patients with haemophilia have impaired bone metabolism, particularly when haematological treatment is on-demand or prophylaxis is initiated late. To date, however, this impaired bone metabolism has not been shown to increase fracture frequency.
