Bleeding Risk Management in a Patient with Familial Macrothrombocythopenia associated with Receptor GpIIb/IIIa Deficit
Author: Maria Francisca Guimarães Peixoto Da Silva Tavares1 ; Cristiana Pereira1 ; Lúcia Marinheiro1 ; Susana Domingues1
1 - Centro Hospitalar Tâmega e Sousa
Introduction
Inherited platelet disorders are rare and their perioperative management may be challenging. We report a case of a patient with a syndrome recently described - Familial Macrothrombocythopenia associated with Receptor GpIIb/IIIa Deficit.
Clinical Case
A 22-year-old female with Familial Macrothrombocythopenia associated with Receptor GpIIb/IIIa Deficit was scheduled for surgical removal of a pilonidal cyst. The patient presented a past history of frequent episodes of abundant epistaxis, menorrhagia, bleeding time prolonged with direct trauma and easy bruising. Preoperative studies revealed isolated thrombocytopenia (92,000 platelets/microL) and a mean platelet volume of 12.3 fL. Preoperative clotting screen (PT, APTT, INR) was within the normal range. After discussion with a haematologist, a one hour preoperatively 1 g of intravenous (IV) tranexamic acid and 24 μg of desmopressin in a slow IV infusion were administered. Surgery was performed under intravenous sedation and analgesia and local infiltration. Nonsteroidal anti-inflammatory drugs were avoided. Postoperatively we prescribed intranasal desmopressin (300 μg) at 24 and 48 hours and per os epsicaprom (6 g) 3 times a day for 7 days. Intra- and post-operative course was uneventful with no bleeding event.
Discussion
Familial Macrothrombocytopenia associated with Receptor GpIIb/IIIa Deficit is a recently described syndrome. Beyond quantitative platelet disorder it implies some degree of platelet impaired function. Bleeding risk is not yet quantified and may be highly variable during surgery. To the extent of our knowledge no cases have been reported of patients with this syndrome submitted to surgery. Therefore the anaesthetic management of the potential bleeding risk of this syndrome is not well known.
Learning points
Anti-fibrinolytics and desmopressin may be useful in the perioperative management of patients with Familial Macrothrombocythopenia with Receptor GpIIb/IIIa Deficit submitted to surgery.

Bleeding risk management in a patient with familial Macrothrombocythopenia associated with decreased receptor GpIIb/IIIa