Anesthetic Care of a Patient With Bernard-Soulier Syndrome for Posterior Spinal Fusion

Abstract

Bernard-Soulier syndrome (BSS), a rare autosomal recessive disorder first identified in 1948, is characterized by excessive and prolonged bleeding due to thrombocytopenia and platelet dysfunction with increased platelet size and deformability. The primary defect in BSS involves the glycoprotein (GP) Ib-IX-V complex, which is important in initiating platelet aggregation and thrombosis after vascular injury by facilitating the adhesion of platelets to von Willebrand factor. The coagulation defect in BSS can lead to significant bleeding during traumatic injury or surgical intervention. We present a 17-year-old adolescent with BSS who presented for posterior spinal fusion for idiopathic scoliosis. Previous reports of perioperative care of patients with BSS are reviewed and options for anesthetic care including perioperative control of the coagulation defect are presented.

Viscoelastic testing in benign hematologic disorders: Clinical perspectives and future implications of point‐of‐care testing to assess hemostatic competence

“…The inherited PLT disorders, though rare, are potentially fatal disorders and have proven challenging in perioperative management and obstetric cases. 38,39,43,45,[47][48][49][50][51][52][53]57 The use of VETs in patients with Glanzmann thrombasthenia (GT) and Bernard-Soulier (BS) has been studied. Because GT and BS are disorders of PLT function, they have been characterized by a hypocoagulable state (Table 2).…”

“…VETs have been used in guiding successful management of actively bleeding GT and BS patients with the standard of care being PLT transfusion and alternative therapies including rFVIIa, tranexamic acid, and desmopressin (Table 2). 38,39,43,[45][46][47][48][49][50]52,53,57 Compared to CCTs, the ability of VETs to provide a more complete view of coagulation status has revealed nuances critical to the management of these disorders. For instance, Male et al 45 used VETs and flow cytometry to demonstrate that only a small number of active donor PLTs were needed to achieve sufficient hemostasis in the perioperative management of GT patients.…”

“…With other cases reporting the successful implementation of VETs in the management of these disorders, further investigation into the utility of these testing modalities may be warranted. 38,39,43,45,47,49,50,52,53,57 Also of valid concern is the use thrombin activation in VETs because it CT: " 26-30 CFT: " 27,31,32 A: # 28-30 MCF: # [26][27][28]30,32,33 MA and MCF appeared to be the most important VET variables in predicting bleeding risk 25,27,33,34…”

“…• PLT transfusion 50,52,53 • Tranexamic acid 52,53 • FFP 50,53 • rFVIIa 52 • rFVIIa and fibrinogen 51 • Desmopressin 50,53 Note: Abnormal TEG/ROTEM variables observed in listed disease states with clinically relevant narrative and documented treatments guided by VET. Abbreviations: A, α-angle; CFT, clot formation time; DDAVP, desmopressin; FFP, fresh-frozen plasma; HD-DXM, high-dose dexamethasone; K, kinetics; TPO-RA, thrombopoietin receptor agonist.…”

“…The inherited PLT disorders, though rare, are potentially fatal disorders and have proven challenging in perioperative management and obstetric cases 38,39,43,45,47–53,57 . The use of VETs in patients with Glanzmann thrombasthenia (GT) and Bernard‐Soulier (BS) has been studied.…”