Literature DB >> 31676141

Paradigm shift for the treatment of hereditary haemophilia: Towards precision medicine.

Gaia Spadarella1, Alessandro Di Minno2, Graziella Milan3, Nicoletta Franco4, Mariateresa Polimeno4, Francesco Castaldo2, Giovanni Di Minno5.   

Abstract

Patients with haemophilia A (HA) or B (HB) experience spontaneous limb- or life-threatening bleedings which are prevented by regular prophylactic intravenous infusions of the deficient coagulation factor (FVIII or FIX). Prophylaxis with subcutaneous long-acting non-factor products that improve in vivo thrombin generation is now under intensive investigation (concizumab, fitusiran) or successfully employed (emicizumab) in haemophilia patients. Both haemophilia patients with/without inhibitors take advantage of non-factor products employed alone. In those who also need bypassing agents (or FVIII concentrates) for breakthrough bleeds, thromboembolic events and/or thrombotic microangiopathy may occur. By enhancing thrombin generation, prothrombotic mutations co-segregating with FVIII/FIX gene mutations may trigger thrombotic episodes in HA patients carrying acquired thrombogenic factors (e.g. venous catheters). A thorough knowledge of individual needs increasingly contributed to improve comprehensive care and personalize treatments in haemophilia. Integrating genomics, lifestyle and environmental data is expected to be key to: 1) identify which haemophilia patients are less likely to benefit from a given intervention; 2) define optimal dosing and scheduling of bypassing agents (or FVIII) to employ in combination with non-factor products; 3) establish tests to monitor in vivo thrombin generation; 4) improve communication and deliver results to individuals. As individual outcomes will be improved and the risk of adverse events minimized, non-factor products will come into wider use within the haemophilia community, and patients will hopefully have no more risks of breakthrough bleeds. The risks of a normal life for a "former haemophilia patient" is likely to change the treatment landscape and the structure of haemophilia Centers.
Copyright © 2019. Published by Elsevier Ltd.

Entities:  

Keywords:  Antagonizing TFPI; Enhancing coagulation; Inhibiting anticoagulant pathways; Laboratory monitoring; Mimicking FVIII activity; Modifier genes; Non-factor products; Reducing AT expression; Risk of thrombosis; Targeting treatments

Mesh:

Year:  2019        PMID: 31676141     DOI: 10.1016/j.blre.2019.100618

Source DB:  PubMed          Journal:  Blood Rev        ISSN: 0268-960X            Impact factor:   8.250


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