Congenital Deficiency of FVII and Acquired Idiopathic Thrombocytopenic Purpura – the Rare Combination of Two Bleeding Disorders

Summary

The congenital deficiency of FVII is an autosomal recessive rare disorder. We have observed 15 patients with this deficiency in our haematology department including the only one patient with the FVII level < 1%. The deficiency with the FVII level < 2% is associated with serious bleeding complications including the joint bleeding, bleeding in the retroperitoneum, gastrointestinal system and in central nervous system (CNS). Serious acquired thrombocytopenia can originate from the impairment of platelets production, from their higher sequestration in the spleen but even from the elevated thrombocytes disintegration. The raised thrombocytes disintegration caused by the autoantibodies is the most frequent source of the acute life threatening thrombocytopenia with the massive bleeding in tissues, gastrointestinal system or CNS. We list the case report of a young patient with congenital FVII deficiency (FVII level < 1%) and acute idiopathic thrombocytopenic purpura with yet unknown aetiology of which has not been fully clarified although the very favourable effect of prednisone therapy indicates the autoimmune mechanism.

Key words:
congenital deficiency of FVII, idiopathic thrombocytopenic purpura, haptoglobin.