Table 1.
Clinical characteristics and bleeding score of patients included in the study
| GT | BSS | CHS | HPS | MYH9-RD | CAMT | THC2 | SSD | Presumably misdiagnosed | Total | |
|---|---|---|---|---|---|---|---|---|---|---|
| n = 13 | n = 8 | n = 2 | n = 1 | n = 2 | n = 1 | n = 1 | n = 19 | n = 23 | n = 70 | |
| Sex (F/M) | 9/4 | 6/2 | 1/1 | 0/1 | 1/1 | 0/1 | 1/0 | 13/6 | 16/7 | 47/23 |
| Age at clinical suspicion/diagnosis (median ± SD) | 10 ± 10 | 12 ± 5 | 5 ± 1 | 2 | 30 ± 21 | 6 | 12 | 29 ± 24 | 13 ± 19 | 12 ± 19 |
| Age at referral for study (median ± SD) | 32 ± 18 | 40 ± 7 | 12 ± 11 | 28 | 34 ± 16 | 21 | 36 | 38 ± 21 | 36 ± 19 | 35 ± 18 |
| Mean BS | 10.5 | 11.8 | 0 | 6 | 0.5 | 8 | 6 | 8.6 | 6.1 | 7.9 |
| % Patients with BS ≥ 2 | ||||||||||
| • Epistaxis | 54 | 100 | 0 | 0 | 0 | 100 | 0 | 21 | 30 | 38 |
| • Cutaneous symptoms | 58 | 50 | 0 | 0 | 0 | 0 | 0 | 47 | 25 | 38 |
| • Minor wounds | 8 | 13 | 0 | 0 | 0 | 0 | 0 | 26 | 16 | 15 |
| • Oral cavity bleeding | 46 | 38 | 0 | 0 | 0 | 0 | 0 | 21 | 10 | 22 |
| • Gastrointestinal bleeding | 31 | 33 | 0 | 0 | 0 | 0 | 0 | 26 | 21 | 23 |
| • Tooth extraction | 33 | 57 | 0 | 100 | 0 | N/A | N/A | 46 | 31 | 38 |
| • Surgery | 40 | 71 | 0 | 100 | 0 | 100 | N/A | 73 | 38 | 51 |
| • Menorrhagia | 100 | 100 | 0 | N/A | 0 | N/A | 100 | 67 | 62 | 76 |
| • Postpartum hemorrhage | 33 | 75 | 0 | N/A | 0 | N/A | 0 | 40 | 33 | 39 |
| • Hematomas or hemarthrosis | 8 | 0 | 0 | 0 | 0 | 0 | 0 | 11 | 16 | 10 |
The Table reflects the clinical characteristics of patients that were confirmed to have a final diagnosis consistent or not (in such case considered “presumably misdiagnosed”) with the previously suspected IPD, the total bleeding score, and the percentage of patients with clinical significant bleeding (grades 2 or 3) for each symptom. For each symptom the grades of bleeding severity ranged from 0 (absence of symptoms) to 3. Grade 1 was given when a patient reported the presence of bleeding, grade 2 if the symptom required evaluation by a physician but no active intervention, and grade 3 if there was some type of intervention. The final bleeding score was generated by summing the severity of all bleeding symptoms reported by the patient [16,17].
Abbreviations: BS Bleeding score, BSS Bernard Soulier syndrome, CAMT congenital amegakaryocytic thrombocytopenia, CHS Chediak-Higashi syndrome, F Female, GT Glanzmann Thrombasthenia, HPS Hermansky-Pudlak syndrome, M Male, MYH9-RD MYH9 related disorder, N/A not applicable, SSD platelet secretion and signal transduction defects, THC2 thrombocytopenia 2.