Diagnostic suspicion at referral | n | Confirmed IPDs (n = 47) | Presumably misdiagnosed (n = 23) | ||
---|---|---|---|---|---|
Phenotype/Functional | Molecular diagnosis | Cases | Presumptive diagnosis | ||
Signaling and/or secretion disorder | 25 | 19 (76%) | 0 | 6 (24%) | No platelet defect |
Glanzmann thrombasthenia | 20 | 13 (65%) | 12 | 7 (35%) | Signaling and/or secretion disorders |
Bernard-Soulier syndrome | 13 | 8 (61.5%) | 8 | 5 (38.5%) | MUO (n = 4) |
MYH9-RD (n = 1)* | |||||
Chediak-Higashi syndrome | 2 | 2 (100%) | 2 | 0 | - |
Hemansky-Pudlak syndrome | 2 | 1 (50%) | 1 | 1 (50%) | No molecular confirmation of disease |
MYH9-RD | 4 | 2 (50%) | 3* | 2 (50%) | MUO |
Platelet von Willebrand disease | 2 | 0 | - | 2 (100%) | No definitive diagnosis |
Congenital Amegakaryocytic Thrombocytopenia | 1 | 1 | 1 | 0 | - |
Thrombocytopenia 2 | 1 | 1 | 1 | 0 | - |
All IPDs Referred | 70 | 47 (67.1%) | 28 (40.0%) | 23 (32.9%) |