Successful thyroidectomy in a patient with Hermansky–Pudlak syndrome treated with recombinant activated factor VII and platelet concentrates

Abstract

Hermansky-Pudlak syndrome is a rare autosomal recessive disorder characterized by the absence of platelet dense bodies in association with albinism. We present the use of recombinant activated factor VII (rFVIIa) in a patient with Hermansky-Pudlak syndrome who underwent total thyroidectomy because of a large richly vascularized nodule (10 cm) compressing the trachea. The patient had a prolonged bleeding time (> 20 min) that remained unchanged after platelet transfusions. However, after infusion of platelets plus rFVIIa, it diminished to 5 min. The platelet aggregation response to adenosine diphosphate and collagen was diminished. Since an early age, the patient had repeated nose bleeding and an episode of melena requiring several tampons, cauterization and transfusions of packed red cells. In this case, we used rFVIIa in bolus for 1 day (four doses of 120 microg/kg every 2 h and six doses of 100 microg/kg every 3 h) and transfusion of platelet concentrates beginning just prior to surgery. No evidence of local bleeding complication could be detected during the entire post-operative period. The hemoglobin level remained normal and no transfusions of packed red cells were necessary. No adverse events occurred.

The use of recombinant factor VIIa in the treatment of bleeding disorders

“…51 Factor VIIa has also been reported to be successful in the treatment of hemorrhages in a patient with the Hermansky-Pudlak syndrome. 52 More experience is necessary before the efficacy of fVIIa can be clearly established in patients with congenital thrombocytopathy.…”

Pulmonary Fibrosis in Hermansky-Pudlak Syndrome

“…This is standard intervention for many qualitative, as well as quantitative bleeding disorders, such as von Willebrand disease, hemophilia A, various platelet disorders and uremic bleeding [69, 70]. Unfortunately, indiscriminate platelet usage increases risk of exposure to infectious agents.…”

“…Benefits include effective contraception without systemic effects of progesterone and lack of required compliance [72]. Success has also been met with administration of recombinant activated factor VII in 1 reported case [69]. …”

Anesthetic Management of a Patient with Hermansky-Pudlak Syndrome

“…For patients with a poor response to DDAVP, recombinant factor VIIa (rFVIIa) can be considered. Case reports have demonstrated success in both the prevention and termination of bleeding complications in patients with HPS who receive rFVIIa [9] [10].…”