Impact of timing of prophylaxis commencement, F8 genotype and age on factor consumption and health-related quality of life in patients with severe haemophilia A
(2023) In Haemophilia 29(4). p.1032-1038- Abstract
Introduction: The timing of prophylaxis and F8 genotype can impact treatment outcomes in adults with severe haemophilia A (HA). Aim: To investigate how F8 genotype, timing, and type of prophylaxis influence arthropathy, bleeding rates, factor consumption and health-related quality of life (HRQoL). Methods: Thirty-eight patients with severe HA were enrolled. Bleeding events were recorded retrospectively during median 12.5 months. F8 gene variants were classified as null or non-null. Joint health and HRQoL were assessed with HJHS and EQ-5D-5L, respectively. Results: The median age at prophylaxis start was 1.25 years in the primary prophylaxis group (N = 15, median age 26 years) and 31.5 years in the secondary group (N = 22, 45 years),... (More)
Introduction: The timing of prophylaxis and F8 genotype can impact treatment outcomes in adults with severe haemophilia A (HA). Aim: To investigate how F8 genotype, timing, and type of prophylaxis influence arthropathy, bleeding rates, factor consumption and health-related quality of life (HRQoL). Methods: Thirty-eight patients with severe HA were enrolled. Bleeding events were recorded retrospectively during median 12.5 months. F8 gene variants were classified as null or non-null. Joint health and HRQoL were assessed with HJHS and EQ-5D-5L, respectively. Results: The median age at prophylaxis start was 1.25 years in the primary prophylaxis group (N = 15, median age 26 years) and 31.5 years in the secondary group (N = 22, 45 years), respectively. There were significant differences in the medians of HJHS (4 vs. 20, p <.001), EQ-5D-5L index (0.9647 vs. 0.904, p =.022), EQ VAS (87 vs. 75, p =.01) and FVIII consumption (3883 vs. 2737 IU/kg/year, p =.02), between the primary and secondary groups, respectively. Median annualized bleeding rate (ABR) was 0 for both groups. Twenty-five null and thirteen non-null F8 gene variants were identified. In the secondary prophylaxis group, lower median FVIII consumption (1926 vs. 3370 IU/kg/year) was shown for non-null compared to null variants, respectively, with similar ABR and HJHS. Conclusion: Delayed prophylaxis start with intermediate dose intensity prevents bleeds but at a cost of more arthropathy and reduced HRQoL, compared to higher intensity primary prophylaxis. Non-null F8 genotype may allow lower factor consumption with similar HJHS and bleeding rates, compared to null genotype.
(Less)
- author
- Arvanitakis, Alexandros LU ; Holme, Pål Andre ; Berntorp, Erik LU and Astermark, Jan LU
- organization
- publishing date
- 2023-07
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- arthropathy, F8 gene variant, F8 genotype, haemophilia, health-related quality of life, non-null, null, primary prophylaxis, secondary prophylaxis
- in
- Haemophilia
- volume
- 29
- issue
- 4
- pages
- 7 pages
- publisher
- Wiley-Blackwell
- external identifiers
-
- pmid:37252898
- scopus:85161305683
- ISSN
- 1351-8216
- DOI
- 10.1111/hae.14806
- language
- English
- LU publication?
- yes
- id
- a0dcf889-9cff-482e-8b39-1abee658561c
- date added to LUP
- 2023-08-24 14:54:49
- date last changed
- 2024-04-20 01:36:02
@article{a0dcf889-9cff-482e-8b39-1abee658561c,
abstract = {{<p>Introduction: The timing of prophylaxis and F8 genotype can impact treatment outcomes in adults with severe haemophilia A (HA). Aim: To investigate how F8 genotype, timing, and type of prophylaxis influence arthropathy, bleeding rates, factor consumption and health-related quality of life (HRQoL). Methods: Thirty-eight patients with severe HA were enrolled. Bleeding events were recorded retrospectively during median 12.5 months. F8 gene variants were classified as null or non-null. Joint health and HRQoL were assessed with HJHS and EQ-5D-5L, respectively. Results: The median age at prophylaxis start was 1.25 years in the primary prophylaxis group (N = 15, median age 26 years) and 31.5 years in the secondary group (N = 22, 45 years), respectively. There were significant differences in the medians of HJHS (4 vs. 20, p <.001), EQ-5D-5L index (0.9647 vs. 0.904, p =.022), EQ VAS (87 vs. 75, p =.01) and FVIII consumption (3883 vs. 2737 IU/kg/year, p =.02), between the primary and secondary groups, respectively. Median annualized bleeding rate (ABR) was 0 for both groups. Twenty-five null and thirteen non-null F8 gene variants were identified. In the secondary prophylaxis group, lower median FVIII consumption (1926 vs. 3370 IU/kg/year) was shown for non-null compared to null variants, respectively, with similar ABR and HJHS. Conclusion: Delayed prophylaxis start with intermediate dose intensity prevents bleeds but at a cost of more arthropathy and reduced HRQoL, compared to higher intensity primary prophylaxis. Non-null F8 genotype may allow lower factor consumption with similar HJHS and bleeding rates, compared to null genotype.</p>}},
author = {{Arvanitakis, Alexandros and Holme, Pål Andre and Berntorp, Erik and Astermark, Jan}},
issn = {{1351-8216}},
keywords = {{arthropathy; F8 gene variant; F8 genotype; haemophilia; health-related quality of life; non-null; null; primary prophylaxis; secondary prophylaxis}},
language = {{eng}},
number = {{4}},
pages = {{1032--1038}},
publisher = {{Wiley-Blackwell}},
series = {{Haemophilia}},
title = {{Impact of timing of prophylaxis commencement, F8 genotype and age on factor consumption and health-related quality of life in patients with severe haemophilia A}},
url = {{http://dx.doi.org/10.1111/hae.14806}},
doi = {{10.1111/hae.14806}},
volume = {{29}},
year = {{2023}},
}