Haemophilia and Fragility Fractures: From Pathogenesis to Multidisciplinary Approach

Haemophilia A (HA) and haemophilia B (HB) are X-linked inherited bleeding disorders caused by the absence or deficiency of coagulation factors VIII (FVIII) and IX (FIX), respectively. Recent advances in the development of effective treatments for haemophilia have led to a significant increase in life expectancy. As a result, the incidence of some comorbidities, including fragility fractures, has increased in people with haemophilia (PWH). The aim of our research was to perform a review of the literature investigating the pathogenesis and multidisciplinary management of fractures in PWH. The PubMed, Scopus and Cochrane Library databases were searched to identify original research articles, meta-analyses, and scientific reviews on fragility fractures in PWH. The mechanism underlying bone loss in PWH is multifactorial and includes recurrent joint bleeding, reduced physical activity with consequent reduction in mechanical load, nutritional deficiencies (particularly vitamin D), and FVIII and FIX deficiency. Pharmacological treatment of fractures in PWH includes antiresorptive, anabolic and dual action drugs. When conservative management is not possible, surgery is the preferred option, particularly in severe arthropathy, and rehabilitation is a key component in restoring function and maintaining mobility. Appropriate multidisciplinary fracture management and an adapted and tailored rehabilitation pathway are essential to improve the quality of life of PWH and prevent long-term complications. Further clinical trials are needed to improve the management of fractures in PWH.

Automated summary

Haemophilia A (HA) and haemophilia B (HB) are X-linked bleeding disorders caused by the absence or deficiency of coagulation factors VIII (FVIII) and IX (FIX). Recent advancements in haemophilia treatment have led to increased life expectancy, resulting in a higher incidence of fragility fractures. The pathogenesis of bone loss in people with haemophilia involves multiple factors including joint bleeding, reduced physical activity, nutritional deficiencies, and FVIII/FIX deficiency. The management of fractures in people with haemophilia includes pharmacological treatment, surgery, and rehabilitation.