The hidden joint in children with haemophilia on prophylaxis

Daffunchio, Carla; Galatro, Gustavo; Faurlin, Virginia; Neme, Daniela; Caviglia, Horacio

doi:10.1016/j.thromres.2023.04.012

Cited by 4 publications

(2 citation statements)

References 38 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…HA results from repeated joint bleeds or even a single joint bleed, but haemophiliaspecific joint changes are also observed in patients without overt joint bleeding [5][6][7]. Moreover, joint damage in haemophilia shows bleeding-independent progression, especially in on-demand patients [8].…”

Section: Introductionmentioning

confidence: 99%

Towards Personalized Treatment in Haemophilia: The Role of Genetic Factors in Iron and Heme Control to Identify Patients at Risk for Haemophilic Arthropathy

van Vulpen,

Mastbergen,

Foppen

et al. 2024

JPM

View full text Add to dashboard Cite

The treatment landscape for haemophilia is changing rapidly, creating opportunities for personalized treatment. As major morbidity is still caused by haemophilic arthropathy, understanding the factors affecting joint damage and joint damage progression might lead to more individualized treatment regimens. We investigated the association of HFE mutations or HMOX1 polymorphisms affecting iron/heme handling with radiographic joint damage in 252 haemophilia patients (severe and moderate). Although iron levels and transferrin saturation were significantly increased in the 95 patients with an HFE mutation, neither carrying this mutation nor the HMOX1 polymorphism was associated with radiographic joint damage, and the same was true after adjustment for well-known factors associated with arthropathy. In conclusion, this study does not support the hypothesis that HFE mutations or HMOX1 polymorphisms can be used to predict the development of haemophilic arthropathy.

show abstract

Section: Introductionmentioning

confidence: 99%

Towards Personalized Treatment in Haemophilia: The Role of Genetic Factors in Iron and Heme Control to Identify Patients at Risk for Haemophilic Arthropathy

van Vulpen,

Mastbergen,

Foppen

et al. 2024

JPM

View full text Add to dashboard Cite

show abstract

“…The decision on how to treat a bleed is usually made by subjective evaluation by the patient, based on pain, feeling of heat/aura, or swelling. However, owing to the potential absence of the symptoms that accompany more severe, harmful bleeds, smaller bleeds may not be identified and treated, leading to joint damage that only becomes apparent during clinical evaluation [ 3 ].…”

Section: Introductionmentioning

confidence: 99%