Chilli Consultancy, The Old Fire Station, 2 Salt Lane, Salisbury, SP1 1JS, UK.
Orphanet J Rare Dis. 2021 May 6;16(1):205. doi: 10.1186/s13023-021-01832-2.
Primary hemophagocytic lymphohistiocytosis (pHLH) is a rare and life-threatening disorder, which usually occurs during infancy or early childhood and is characterized by abnormal activation of the immune system. However, the burden of pHLH on children and their families has not been previously evaluated. This qualitative study investigated the impact of pHLH and its treatment on the physical, emotional, and social well-being of patients and caregivers in the USA and UK using interviews to provide a comprehensive insight from the perspective of the caregivers and young survivors.
Twenty-one caregivers were enrolled (median [range] age, 41.1 [26-58] years) and represented 20 patients, four from the UK and 16 from the USA. At enrollment, 17 of the 20 patients were alive with a median [range] age of 12.75 [5-31] years at a mean [range] of 7.8 [0.6-11.6] years after diagnosis. In addition, four adult survivors (median [range] age, 23.3 [21-30] years) were also enrolled (total participants n = 25). From noticing initial symptoms to receiving a diagnosis, caregivers reported a mean (range) of 25.9 (0-258) months. pHLH and its treatment had a substantial and long-lasting impact on patients and caregivers, affecting their physical, emotional and social well-being, family relationships, friendships, and ability to work and study. Many of the experiences reported were negative, even after curative treatment, and some participants experienced long-lasting physical and emotional issues. The most noticeable impact of pHLH for patients was on their physical well-being, whereas for caregivers it was emotional well-being. Across all participants there was a sense of isolation due to the illness and its treatment, particularly regarding the patient being immunocompromised and the fear of infection. Areas having a major impact and considered in need of improvement included: delays in diagnosis, lack of patient-specific information on pHLH and a lack of support and understanding about the condition.
pHLH placed a substantial burden on patients and caregivers, which for some were long-lasting. This was compounded by the lack of awareness and understanding of pHLH by healthcare professionals, and a lack of accessible information for those affected by pHLH.
原发性噬血细胞性淋巴组织细胞增生症（pHLH）是一种罕见且危及生命的疾病，通常发生在婴儿期或幼儿期，其特征是免疫系统异常激活。然而，pHLH 对儿童及其家庭的负担尚未得到评估。本定性研究使用访谈调查了美国和英国的患者及其照顾者的 pHLH 及其治疗对其身体、情感和社会福祉的影响，从照顾者和年轻幸存者的角度提供了全面的见解。
共纳入 21 名照顾者（中位数[范围]年龄 41.1[26-58]岁），代表 20 名患者，其中 4 名来自英国，16 名来自美国。入组时，20 名患者中有 17 名存活，中位[范围]年龄为 12.75[5-31]岁，平均[范围]诊断后 7.8[0.6-11.6]年。此外，还纳入了 4 名成年幸存者（中位数[范围]年龄 23.3[21-30]岁）（总参与者 n=25）。从注意到初始症状到获得诊断，照顾者报告的平均[范围]时间为 25.9（0-258）个月。pHLH 及其治疗对患者和照顾者产生了重大而持久的影响，影响了他们的身体、情感和社会福祉、家庭关系、友谊以及工作和学习的能力。许多报告的经历都是负面的，即使在治愈性治疗后也是如此，一些参与者还经历了长期的身体和情感问题。pHLH 对患者最明显的影响是身体上的不适，而对照顾者来说则是情绪上的不适。所有参与者都因疾病及其治疗而感到孤立，尤其是因为患者免疫功能低下，以及对感染的恐惧。对患者产生重大影响并需要改进的领域包括：诊断延迟、缺乏针对 pHLH 的患者特定信息以及对该疾病缺乏支持和了解。
pHLH 给患者和照顾者带来了沉重的负担，对一些人来说是持久的。这是由于医疗保健专业人员对 pHLH 的认识和理解不足，以及受 pHLH 影响的人缺乏可获取的信息所导致的。
