CO-46 | MILD HEMOPHILIA A AND JOINT HEALTH IN REAL LIFE: IS THAT AN EMERGING ISSUE? A SINGLE CENTER EXPERIENCE

G. Murante^1|2|3, F. Valeri^1|2, S. Bergonzi^1|2|3, M. Capetta^1|2|3, C. Dainese^1|2, A. Valpreda⁴, R. Pastorino^1|3, F. Bocchi^1|3, B. Bruno^2|3, A. Borchiellini^1|2 | ¹Regional Centre for Hemorrhagic and Thrombotic Diseases, AOU Città della Salute e della Scienza of Turin, Italy; ²Division of Hematology, AOU Città della Salute e della Scienza, University of Turin, Italy; ³Dep. of Molecular Biotechnology and Health Sciences, University of Turin, Italy; ⁴Central Lab. Baldi and Riberi, AOU Città della Salute e della Scienza of Turin, Italy

Background and Aims. Mild hemophilia A (mHA) is characterized by sporadic bleeds that rarely lead to symptomatic arthropathy. Data on joint damage in mHA are limited. The aim of this study is to investigate joint status in our cohort of mHA patients, in order to detect any significant sign of arthropathy and to explore any relationship between joint health and FVIII levels, body mass index (BMI) and age. We perform a quality of life (QoL) assessment in order to detect any impairment health related.
Materials and Methods. Patients with mHA and between 18 and 65 years old referred in our center in 2025 were included. For each patient HJHS (Hemophilia Joint Health Score) and HEAD US (Hemophilia Early Arthropathy Detection with Ultrasound) protocol were performed. Data regarding FVIII basal value, BMI and pain (NRS scale) were also collected. Variables were analyzed for the entire cohort and splitted according to age (< 49 yo and > 50 yo) and FVIII levels (from 5% to 20% and from 21% to 35%). EQ-5D-3L, SF36 and IPAQ questionnaires were also administered.
Results. Of the 96 mHA patients, 42 hemophilia patients fulfilled inclusion criteria and were enrolled in the study. Results are reported in table 1. We globally found median HEAD US and HJHS were 2 (IQR 0-5). Only 15 (36%) patients had no joint damage (HEAD US=0), 27 (64%) had at least one joint with a HEAD-US. No differences in HEAD US and HJHS according to FVIII, nevertheless we found that for elderly patients and for whom with higher BMI there is a statistically significant increase in HEAD-US. 20 patients fulfilled all QoL questionnaires: 14/20 (70%) patients showed no impairment in QoL, 6/20 (30%) expressed discomfort related to musculoskeletal criticalities. In the IPAQ evaluation, 15/20 (75%) patients were classified as quite or very active and 5/20 (25%) inactive. Despite low sample size, we observed a correlation trend between high HJHS and worse QoL perception. No correlation between QoL and FVIII levels, HEAD US, age or BMI were found.
Conclusions. Our data suggest that mHA patients show overall better joint status compared to not mild HA patients, without any differences according to severity FVIII deficiency. No correlation between HJHS and others variables was detected. We found a significant correlation between HEAD US and age and BMI, identifying these two parameters as risk factors for early arthropathy development. mHA patients showed overall good QoL, with only critical issue represented by pain and/or musculoskeletal impairment, suggesting that the disease burden is more related to articular health. In conclusion, joints US should be routinely investigated in mHA patients to detect any early damage, that can occur especially in adulthood and in overweight patients and can affect QoL.