Altisent C, Martorell M, Crespo A, Casas L, Torrents C, Parra R
Haemophilia Centre, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Department of Rehabilitation, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Haemophilia. 2016 Mar;22(2):218-224. doi: 10.1111/hae.12792. Epub 2015 Aug 28.
This observational study was undertaken with the aim to describe the characteristics and evaluate the outcomes of prophylactic treatment in children with severe haemophilia A (HA) treated at our centre.
Twenty-five patients aged 4-19 years with severe HA, no history of inhibitors and treated with at least two infusions of factor VIII (FVIII) per week were studied. Prophylactic doses and annual joint bleeding rate (AJBR) were retrospectively evaluated over the last 5 years. Current joint status was assessed using the Haemophilia Joint Health Score (HJHS) (136 joints of 23 patients) and the Haemophilia Early Arthropathy Detection with Ultrasound (HEAD-US) procedure (124 joints of 21 patients).
Median AJBR was 0.2 and median prophylaxis dose 65.4 IU kg week . Median total HJHS was 0 (range 0-13) and total HEAD-US 1 (0-8). At the joint level, 85.3% of joints were normal on HJHS and 79.0% on US. The ankle was the joint most commonly affected, considering bleeding and ultrasound results. Correlation was found between HEAD-US scores and bleeding scores but not between HEAD-US and HJHS scores. HJHS and HEAD-US scores were concordant in 91/124 (73.4%) joints (86 joints normal and five abnormal). Ultrasound detected minimal changes in 19.6% of joints with normal physical function, whereas 12.2% of joints considered normal on ultrasound showed changes at HJHS.
A well-preserved joint status was found in our cohort. High-resolution US detected a higher percentage of abnormalities than the physical evaluation, but the clinical implications of these findings still need to be ascertained.
本观察性研究旨在描述在我们中心接受治疗的重度甲型血友病（HA）患儿的特征，并评估预防性治疗的效果。
对25例年龄在4至19岁、患有重度HA、无抑制物病史且每周至少接受两次凝血因子VIII（FVIII）输注治疗的患者进行研究。回顾性评估过去5年的预防剂量和年度关节出血率（AJBR）。使用血友病关节健康评分（HJHS）（23例患者的136个关节）和超声血友病早期关节病检测（HEAD-US）程序（21例患者的124个关节）评估当前关节状态。
AJBR中位数为0.2，预防剂量中位数为65.4 IU/kg/周。HJHS总分中位数为0（范围0至13），HEAD-US总分中位数为1（0至8）。在关节层面，HJHS评估中85.3%的关节正常，超声评估中79.0%的关节正常。综合出血情况和超声结果来看，踝关节是最常受累的关节。发现HEAD-US评分与出血评分之间存在相关性，但HEAD-US评分与HJHS评分之间无相关性。HJHS和HEAD-US评分在91/124（73.4%）个关节中一致（86个关节正常，5个关节异常）。超声检测到19.6%身体功能正常的关节有微小变化，而超声评估为正常的关节中有12.2%在HJHS评估中显示有变化。
在我们的队列中发现关节状态保存良好。高分辨率超声检测到的异常百分比高于体格检查，但这些发现的临床意义仍需确定。
