At present the diagnosis of HPS is made by ascertaining the ethnicity of the patient, as well as assessing for conditions causing acquired thrombocytopenias, and after also excluding the known inherited giant platelet disorders(IGPD) and other congenital thrombocytopenias. Unfortunately some patients with IGPD are treated inappropriately with corticosteroids, immunoglobulin infusions and even splenectomy.
Harris platelet syndrome
Quebec platelet disorder
Fryns-Aftimos syndrome
Bernard–Soulier syndrome
Gray platelet syndrome
COAT platelet defect
Glanzmann's thrombasthenia
WAGR syndrome