Comprehensive Pediatric Care of Rare Bleeding Disorders

Muriel Giansily-Blaizot; Jean-François Schved

Disclosures

Pediatr Health. 2010;4(2):209-217. 

In This Article

Future Perspective

Future perspectives should focus on three major issues: improving the early diagnosis of RBDs, searching for clinical or biological markers that are capable of predicting any bleeding risk and developing specific therapies where they are not currently available. First, pediatric-specific bleeding scores could be of great interest for both the screening of RBDs and the evaluation of bleeding risk prior to surgery. Many efforts have been made to develop quantitative scoring systems; these systems have recently undergone pediatric-specific modifications and are currently being evaluated in large multicentric studies (reviewed in [28]). However, bleeding histories are subjective and sometimes difficult to obtain since a child may not have undergone any hemostatic challenge at the time of examination. Therefore, other biological parameters such as the thrombin generation time should also be tested to predict the bleeding risk in children. Second, while improving the treatment of RBDs represents a difficult challenge, urgent efforts should be focused on developing a concentrate to treat patients who are affected by FV deficiency or the combined FV plus FVIII deficiencies. Currently, no FV concentrate exists and FV is only available through FFP. However, unfortunately, numerous countries do not have access to virus-inactivated FFP. Finally, the major issue surrounding RBDs is the lack of information available in the literature, with data being from short series or isolated clinical cases. The constitution of international molecular and therapeutic registries, such as the International Rare Bleeding Disorders Database,[101] should provide better access to information regarding the frequency of clinical manifestations and the relationships between genotypes and phenotypes, and may eventually help to regroup experts in the field with a view to forming consensual therapeutic measures.

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