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Treatment of rare factor deficiencies other than hemophilia

Marzia Menegatti and Flora Peyvandi

Abstract

The deficiency of fibrinogen, prothrombin, factor V, VII, VIII, IX, X, XI and XIII, called rare coagulation disorders (RCDs), may result in coagulopathies leading to spontaneous or post-trauma and post-surgery hemorrhages. RCDs are characterized by a wide variety of symptoms, from mild to severe, which can vary significantly from one disease to another and from one patient to another. The most typical symptoms of all RCDs are mucosal bleedings and bleeding at the time of invasive procedures, while other life-threatening symptoms such as central nervous system bleeding and hemarthroses are mostly present only in some deficiencies (afibrinogenemia, FX and FXIII). At variance with hemophilia A and B and von Willebrand disease, RCDs are much less prevalent, ranging from 1 case in 500,000 to 1 in 2 million, in the general population. Their clinical heterogeneity associated with the low number of patients has led to a delay in the development of appropriate therapies. Indeed, a similar heterogeneity can also be found in the treatment products available, ranging from the specific recombinant proteins to treat FVII and FXIII-deficient patients to the complete absence of specific products to treat patients with FII or FV deficiencies, for whom PCC or FFP are to date the only option. The recent development of novel hemostatic approaches for hemophilia, such as the use of non-substitutive therapy as RNA interference, anti-TFPI and the gene therapy aimed at improving the patient's quality of life may have an important role also in the treatment of patients with RCDs, in the future.

  • Submitted June 29, 2018.
  • Accepted September 18, 2018.