Clinical and laboratory characteristics of 23 Hermansky–Pudlak syndrome patients
| Kindred/ number | Sex | Ethnic origin | Consanguinuity | Platelet aggregation | BT | Plalelet nucleotides | Coagulation abnormalities | PFA-100 | Bleeding history | Treatment | Other |
|---|---|---|---|---|---|---|---|---|---|---|---|
| A, abnormal; N, normal; ND, not done; DDAVP, desmopressin; URTI, upper respiratory tract infection. | |||||||||||
| A1 | F | Turkish | + | A | A | A | None | A | None | None | Hyperextendable joints |
| A2 | F | Turkish | + | A | A | A | None | A | Bruising & epistaxis | None | None |
| A3 | F | Turkish | + | N | ND | N | None | A | None | None | None |
| A4 | F | Turkish | + | A | ND | A | None | A | None | None | None |
| B5 | F | Turkish | + | A | ND | A | APTT normal factors | N | None | None | None |
| B6 | M | Turkish | + | A | ND | A | None | N | Epistaxis | None | None |
| C7 | F | Turkish | + | N | A | A | None | A | Menorrhagia | DDAVP, cautery | None |
| C8 | F | Turkish | + | A | A | A | None | A | Bled post dental extract | None | None |
| D9 | M | Turkish | + | A | ND | A | APTT normal factors | A | Gum bleeding | None | None |
| D10 | M | Turkish | + | A | ND | A | APTT normal factors | N | None | None | None |
| D11 | F | Turkish | + | A | ND | A | APTT Fitzgerald deficiency | A | Bruising | None | None |
| D12 | M | Turkish | + | ND | ND | ND | None | N | Bruising | None | None |
| 13 | M | Turkish | − | A | ND | A | None | N | Post circumcision | None | None |
| E14 | M | Pakistan | + | A | A | A | None | ND | Post circumcision & dental extraction | No response to DDAVP | None |
| E15 | M | Pakistan | + | A | A | A | None | ND | None | None | None |
| E16 | F | Pakistan | + | N | A | A | None | A | None | Response DDAVP | Complete heart block |
| 17 | M | Pakistan | + | A | ND | A | None | N | None | None | None |
| 18 | M | UK | − | A | A | A | None | ND | Epistaxis | None | None |
| 19 | M | Peru | − | N | A | A | None | ND | None | None | None |
| 20 | F | UK | − | A | ND | A | None | A | None | None | Ureteric reflux |
| 21 | M | UK/German | − | A | A | A | None | A | Subdural haematoma, retinal haemorrhages | DDAVP induced fitting | None |
| 22 | F | UK | − | A | ND | A | none | A | Epistaxis | Cautery | Mild mitral abnormality |
| 23 | F | UK | − | A | A | A | none | A | Bruising, bit | None | URTI ++ normal |
| tongue needed stitch | Pulmonary function/ echocardiogram | ||||||||||