Abstract Number: PB0711
Meeting: ISTH 2021 Congress
Theme: Hemophilia and Rare Bleeding Disorders » Rare Bleeding Disorders
Background: Congenital congenital bleeding disorders (CBD) comprise a heterogeneous group of diseases that affect hemostasis, in patients with a family history of bleeding.
Aims: Describe clinical and analytical characteristics of the patients in our center with CBD.
Methods: We retrospectively reviewed all factor assays (II, V, VII, VIII, IX, X and XI) performed in our center from 02/09/2009 to 08/31/2020. 3911 assays performed, in 594 cases level was below the reference range. Subsequently, we review medical histories of each patient and hematology paper medical records.
Results:
| Clinical variables | FV | FVII | FVIII | FIX | FX | FXI |
| Patients | 15 | 51 | 12 | 18 | 15 | 59 |
| Families | 2 | 4 | 2 | 4 | 3 | 8 |
| Age at diagnosis (median) | 14 | 37 | 0 | 14 | 35 | 38 |
| Cause of study – Bleeding history – Family study – Prolonged aTTP/PT – Unknown |
1 4 9 1 |
0 7 44 0 |
0 7 3 2 |
3 10 3 2 |
0 6 9 0 |
1 10 48 0 |
| ISTH BAT score ≥1 | 4 | 6 | 7 | 5 | 1 | 3 |
| Spontaneous bleeding | 2 | 6 | 7 | 5 | 1 | 3 |
| Surgeries | 10 | 42 | 3 | 9 | 6 | 46 |
| Perioperative treatment | 4 | 15 | 3 | 4 | 2 | 16 |
| Postoperative bleeding | 2 | 0 | 0 | 0 | 0 | 2 |
Clinical characteristics of the patients in our center with CBD
| Analytical variables | FV | FVII | FVIII | FIX | FX | FXI |
| Patients | 15 | 51 | 12 | 18 | 15 | 59 |
| Median factor level (%) | 49 | 41 | – | – | 48 | 43 |
| Factor range (%) | 28-59 | 13-57 | 0-43 | 0-55 | 36-57 | 1-58 |
| Confirmation deficiency | 8 | 32 | 10 | 13 | 4 | 23 |
| Thrombopenia (< 100.000/mm3) | 1 | 2 | 0 | 0 | 0 | 0 |
| Thrombocytosis (> 450.000/mm3) | 0 | 0 | 0 | 0 | 0 | 0 |
| Prothrombin activity (<70%) | 10 | 33 | 0 | 0 | 8 | 1 |
| PT (>15 s) | 13 | 47 | 0 | 0 | 9 | 2 |
| aPTT (> 36 s) | 13 | 1 | 11 | 18 | 4 | 54 |
Analytical variables of the patients in our center with CBD
We found 168 patients with factor deficiencies. Patients with von Willebrand Disease and thrombopathies were excluded. Tables 1 and 2 shows the clinical and analytical characteristics of our patients. 7 patients had combined factor deficiencies. Most frequent disorder was FXI(35%), FV(55%) and FX(47%) deficiencies. Only one patient was diagnosed with dysprothrombinemia, no patient factor FXIII deficiency. Median factor levels (excluding hemophiliac patients) was 45%, the range of factor levels was highly variable. 3 patients presented thrombopenia. Factor deficiency was confirmed in 90 patients with a second assay test. 23 families were identified. Median age range at diagnosis was 0(hemophilia A)-38(FXI), 55% were male and 45% female. Most frequent cause of study was alterations in coagulation tests. 28 patients had ISTH BAT ≥15 patients had severe bleeding. 9 patients are receiving prophylaxis. 118 surgeries were performed, in 44 cases patients received treatment (factor, FFP, desmopressin) and there was no bleeding. In the other group 3 patients had severe bleeding, but not fatal.
Conclusions: Our data reproduce clinical and analytical characteristics of the registries of patients with CBD previously reported.
In our series there is probably a familial underdiagnosis. Family history is essential and greater awareness is necessary.
Analysis of registry of patients with CBD from each center is essential to improve the quality of care for our patients.
To cite this abstract in AMA style:
Lorenzo Jambrina A, Torres Tienza A, Mosquera Tapia M, Marcellini Antonio S, García Mateo A, Queizán Hernández JA. Registry of Patients with Congenital Bleeding Disorders from a Single Centre: Clinical and Analytical Characteristics [abstract]. Res Pract Thromb Haemost. 2021; 5 (Suppl 2). https://abstracts.isth.org/abstract/registry-of-patients-with-congenital-bleeding-disorders-from-a-single-centre-clinical-and-analytical-characteristics/. Accessed November 30, 2023.« Back to ISTH 2021 Congress
ISTH Congress Abstracts - https://abstracts.isth.org/abstract/registry-of-patients-with-congenital-bleeding-disorders-from-a-single-centre-clinical-and-analytical-characteristics/