Comprehensive Pediatric Care of Rare Bleeding Disorders

Muriel Giansily-Blaizot; Jean-François Schved


Pediatr Health. 2010;4(2):209-217. 

In This Article

Treatment: When?

There is no international consensus concerning treatment modalities for RBDs. Severe hemorrhagic complications require immediate infusion of replacement therapy or an equivalent. The desired plasma level is likely to differ depending on which factor is deficient, and yet, except for FXIII and fibrinogen, a postinfusion level superior to 30% is recommended. For FXIII, a 5% plasma level is probably enough, while for fibrinogen, the level of security ranges between 0.8 and 1 g/l.

Surgery is sometimes necessary in patients with a RBD. Preoperative screening constitutes the main circumstance of diagnosis. However, the plasma level of each factor that would ensure a safe surgical procedure is poorly documented. There is a general trend of proposing replacement therapy in conjunction with all major surgical procedures, whatever the basal factor level. Yet reports of patients having previously undergone surgery without replacement therapy, when the diagnosis of factor deficiency had not been made, are frequent.[21] Many mildly affected patients only need tranexamic acid for minor-to-moderate surgeries.[2] With this in mind, most patients with a mild deficiency may not require replacement therapy to undergo surgery. The problem lies in determining the minimum plasma level required to ensure that surgery is safe without substitution. This level should vary depending on the form of deficiency and probably varies between patients. However, in every case, all invasive procedures should take place at a specialized center and be carried out by physicians who are experienced in operating on patients with hemophilia.

Another critical question concerns the scheme of long-term treatment and prophylactic measures. Most of the knowledge of congenital hemorrhagic disease management comes from hemophilia, for which there is a large consensus to recommend prophylaxis as a reference treatment rather than an on-demand therapy. In hemophilia, prophylaxis consists of infusions of factor concentrates two- to three-times a week, or on alternate days, even in the absence of bleeding, with the aim of obtaining minimal residual plasma levels of the factor in question in order to prevent hemorrhage. A randomized study confirmed the superiority of this therapeutic approach for preventing chronic arthropathy in hemophilia A patients.[26] In RBDs, prophylaxis therefore likely represents the most suitable therapeutic approach; however, the exact protocol in terms of the dose and frequency of infusions now needs to be determined. For instance, prophylaxis in FXIII deficiency is recommended once a month,[7] whereas in FVII deficiency, two- or three-times a week appears to be a good compromise, despite the short half-life of rFVIIa.[27]

Finally, all the therapeutic decisions concerning this group of patients should be made by a team of specialists, thus requiring the follow-up of all affected children in a specialized reference center for the treatment of hemophilia.


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