Inherited Disorders of Platelet Function

שנת פרסום ראשונה: 2013
שנת עדכון:
מפרסם: Pediatric Clinics of North America

KEY POINTS

  • Patients with platelet function disorders (PFD) have abnormal primary hemostasis and typically present with bruising, epistaxis, and especially menorrhagia.
  • PFD are more common than previously recognized and may be more common than von Willebrand disease, especially in adolescents with menorrhagia.
  • Severe PFD such as Bernard-Soulier syndrome and Glanzmann thrombasthenia are rare but fairly straightforward to diagnose.
  • Milder PFD are more common but may be more difficult to diagnose and may not be identified with the readily available platelet function screen tests.
  • Advanced testing for PFD includes platelet light transmission aggregometry, electron microscopy, and biochemical analysis; such testing is less widely available and should be overseen by a pediatric hematologist.
  • Supportive care measures such as oral contraceptives, antifibrinolytic agents, and iron replacement are the mainstay of management for patients with symptomatic PFD.
  • Desmopressin, platelet transfusions, and recombinant activated factor VII may be indicated in certain clinical settings.

Pediatr Clin N Am 60 (2013) 1475–1488
http://dx.doi.org/10.1016/j.pcl.2013.08.004