Abstract
Background: Bernard Soulier syndrome is a rare autosomal recessive platelet function disorder that impairs platelet adhesion to von Willebrand factor, especially at high shear flow. The disorder results from partial to complete deficiency or dysfunction of the GP Ib-IX-V receptor. Bernard Soulier syndrome typically results in prolonged bleeding time, thrombocytopenia, and giant platelets. The main clinical symptoms, evident from early childhood, include frequent episodes of epistaxis and hemorrhage associated with mucocutaneous bleeding or trauma. Specific treatment of bleeding episodes or prophylaxis for the prevention of bleeding during surgical procedures are platelet transfusions. This treatment option is not devoid of complications.
Alloimmunization by HLA antigens and antibody formation to the GPIb-IX-V complex frequently occur and, thus limit future responses to platelet transfusions. Recent patient studies have suggested that recombinant factor VIIa (rVIIa, NovoSeven®) may be an effective therapy for treatment of bleeding in patients with congenital platelet function defects and other acquired platelet disorders, including thrombocytopenia.
Case Reports: We report on our experience with rFVIIa in a 21-year-old woman with Bernard Soulier syndrome and dental extraction (2 wisdom teeth). In 2000, after a first extraction of one wisdom tooth, that was covered by administration of DDAVP and platelet transfusion, a bleeding episode occurred, requiring resurgery. This time rFVIIa was used as first line therapy. An initial dose of rFVIIa (100 μg/kg/bw) was administered 15 min. prior to surgery, followed by two doses of 90 μg/kg/bw at 120 min intervals postoperatively. In the first three days after surgery, 90μg/kg/bw rFVIIa were administered every 12 hrs. Tranexamic acid (Cyklokapron® 3 x 1 g/d) was started postoperatively and continued for 10 days. There were no postoperative bleeding episodes and no platelet transfusion was required.
In conclusion, rFVIIa in combination with tranexamic acid appears to be an effective and safe therapeutic alternative for prophylaxis of bleeding episodes in dental extraction in patients with Bernard Soulier syndrome.
Disclosure: No relevant conflicts of interest to declare.
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