Background: The child's diagnosis of a chronic genetic disease such as haemophilia is life-changing and impacts not only the child, but also the parents (Khair & Chaplin, 2016). Alloantibodies to factor concentrates occur in 25-30% previously untreated patients (PUPs), and usually develop within the first 50 exposure days (EDs) and can cause anxiety in parents of children with haemophilia. Risk factors include ethnicity, genotype, family history of inhibitors and product type. Moreover, the daily management of the disease can cause a great burden to these parents.
Aim: Evaluation of caregiver's burden in parents caring for toddlers and young children with severe haemophilia from a single centre in Germany.
Methods: Caregivers of recently diagnosed PUPs with severe haemophilia A or B (< 0,01 IU/ml FVIII or FIX) from the GZRR were included in this study. Haemophilia-specific caregiver's burden was evaluated using the 'HEMOphilia associated Caregiver Burden scale' (HEMOCAB), comprising 54 questions in 13 domains, of which nine domains build the sum score FREQUENCY of burden ranging from 'never' to 'always' and four domains build the sum score INTENSITY of burden ranging from 'not at all' to 'very much'. High values imply high burden (von Mackensen et al., 2015). Clinical data were collected from patient records.
Results: Twenty-eight caregivers with a mean age of 35.92±8.6 years participated, most of them were mothers (71.4%) and hold the primary responsibility in the management of their children's disease (50%). Eighty-seven percent of the caregivers were married and 95.2% lived with a partner and had a median number of 2 children (range 1-4). Most of them had a high school education (47.6%) and were working full- or part-time (56.5%); 52.9% were not working full-time due to caring for their haemophilic child. Most of the families lived in a big city (60.9%). Half of the caregivers reported that haemophilia affected their family life and 28.6% had an economic impact. They were caring for 21 children with severe haemophilia with a median age of 2.11 years (range 0.45-8.7). 85.7% of the children had haemophilia A, none had a target joint, reduced range of motion, a concomitant disease or an inhibitor; 68.4% had a high-risk mutation. One third of the children received home treatment (33.3%) and were mainly infused by a physician at the centre (63.2%) and all had a peripheral venous access. Two out of 21 children had not yet started treatment, while all children who received treatment were on primary prophylaxis, mainly every 10 days (31.6%), with plasma-derived products and a median of 60 EDs (range 0-229). In general, all PUPs at the GZRR when starting their treatment receive 20 IU/kg every 10 days until 20 EDs, thereafter the dosing and frequency will be escalated individually up to 40 IU/kg up to 4x/week depending on their bleeding tendency. Two children underwent a surgical procedure (circumcision, phimosis). In average children had 3.0±3.6 total bleeds in the past 12 months and 0.43±0.8 joint bleeds. Caregiver's overall burden was 27.95±13.2 with highest impairments in the domains 'emotional stress' (M=39.17±20.0), 'perception of your child' (M=35.85±22.8) and 'work' (M=34.44±36.8). Forty-seven percent 'always/often' asked themselves "if my child's condition will be better in the future", 40.3% were "afraid that my child could get injured in an accident and I cannot help him" and 30% thought "my child needs more attention and affection"; 33.3% thought that 'quite a bit/very much' "the choice of their job depends on a location close to my child's day care/school".
Conclusion: Ninety-one percent of the PUPs had started with an early low-dose prophylaxis with plasma-derived products, no inhibitors occurred so far although the critical benchmark of 50 EDs has been exceeded and resulted in good bleed protection with few joint bleeds. Caregivers reported highest burden in the domain 'emotional stress' which might be caused by the permanent conflict situation; on the one hand, they want their child to grow up as normal as possible (without stigmatization), on the other hand, they want to protect their child from bleeding. To understand how such demands impact on caregivers of children with haemophilia who live with the daily threat of bleeding can help health professionals to provide effective support to parents and families.
No relevant conflicts of interest to declare.
Asterisk with author names denotes non-ASH members.