Gene therapy for hemophilia, a clinical viewpoint

Chou, Sheng-Chieh; Hsu, Yu‐Chen; Lin, Shi‐Ming

doi:10.1016/j.jfma.2023.05.008

Cited by 4 publications

(1 citation statement)

References 68 publications

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“…4 Standard of care (SOC) to control severe haemophilia includes prophylactic factor replacement therapy (FRT), aimed at compensating for the deficiency of coagulation factors FVIII or FIX, non-replacement therapies and other treatment perspectives, including gene therapy strategies. [5][6][7] It is worth noting that last decades have been seeing a progressive improvement in the global care of haemophilia, with the optimisation of the on-demand treatment on one side, and of prophylaxis, by both its fine tailoring and the use of novel pharmacological approaches (e.g. emicizumab), on the other side.…”

Section: Introductionmentioning

confidence: 99%

The good, the bad and the ugly of pain in haemophilia: Recent evidence on the epidemiology, molecular mechanisms and knowledge gaps preventing optimal treatment

Benemei,

Mattia,

Di Minno

2024

Haemophilia

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IntroductionHaemophilia is an inherited, X‐linked blood clotting disorder caused by the deficiency of coagulation factors VIII (FVIII, haemophilia A) or IX (FIX, haemophilia B). Spontaneous bleeds are common in severe forms of haemophilia and can also occur in moderate and mild haemophilia. Severe or repeated bleeding at a joint can evolve into chronic haemophilic arthropathy, with functional damage of the joint, disability, and intense chronic articular pain. Nonetheless, acute and chronic pain may emerge due to secondary conditions related to bleedings.AimThis narrative review aims to critically discuss the most recent evidence about pain in haemophilia to give healthcare professionals a clear picture of current knowledge hence favouring the optimisation of clinical management of pain.MethodsExtensive literature search with the terms ‘hemophilia’ AND ‘pain’, focusing on the time window 2021–2023.ResultsAcute and chronic pain is a critical aspect of haemophilia at all ages. It should be considered a multifaceted phenomenon, with a positive role as an early emergency signal of a clinical event (haemarthrosis), and numerous detrimental aspects linked to its burden that heavily affects the health‐related quality of life, with psychological and social consequences.ConclusionDespite its prevalence and frequency in people with haemophilia, pain is often underestimated by healthcare professionals, leading to insufficient and inadequate treatment, also due to uncertainty linked to the presence of the coagulation disorder or arthritic flares.

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