Background TRAPS is a genetic disorder characterised by recurrent attacks of fever, abdominal and muscle pain and rash. It is most common in patients of northern European origin.1
Objectives Very little is known about the patient experience with TRAPS. A qualitative research study was undertaken to determine burden of disease on patients and caregivers and, describe patient's journey.
Methods Patients with TRAPS or caregivers (paediatric patients) were recruited disease experts in rare fever syndromes and patient groups (n=16). They completed a 20 page pre-interview questionnaire and in-depth 90 minute interview. Responses were quantified for patients with complete data available (n=15). Topics of interest were symptoms, diagnosis, burden, treatment experience and unmet needs.
Results A majority of patients were female (n=13) with a family history of TRAPS (n=9). Patients reported physical functioning was greatly impaired during an attack. The most commonly reported symptoms were fever, abdominal pain, joint pain, rash, vomiting and diarrhoea. In childhood, fever was the most prominent symptom and in adults, muscle and joint pain. Difficulties caused by missing school due to attacks or attending medical appointments were common with resulting damage to their education. Adults reported having to miss work due to attacks or medical appointments, although anxiety over frequently taking time off often led them to cope while feeling unwell. Patients felt restricted in their ability to engage in social events and activities, creating a sense of isolation, embarrassment and uncertainty. Damage to education or career had a negative financial impact as did travelling long distances to medical appointments. Delay in diagnosis was frequently reported with time to diagnosis greater than five years in more than 50% of patients. Misdiagnosis was common. Steroids are typically the first treatment and although grateful for the initial relief, patients are fearful of the long term side effects. Also relief is limited with patients still generally feeling unwell and efficacy diminishes over time forcing an increase in dose. This leads to initiation of biologics, typically IL-1 or TNF-alphas. The majority of patients reported a decrease in severity and frequency of attacks while on biologics, giving a greater sense of control over their everyday lives. Of concern are painful injections, increased susceptibility to infection, a need for cold storage and worry that efficacy will diminish. Patients expressed interest in oral administration and a decrease in injection frequency. They also mentioned travelling was difficult due to cold storage of medication. An increase in disease awareness was important. There appears to be a lack of physician awareness for TRAPs. Patients receive little information about their condition and are often required to do their own research.
Conclusions The study demonstrated that the burden of TRAPS is considerable, impacting on physical, social, emotional and practical/financial aspects of patients' and caregivers lives. There needs to be greater disease awareness among physicians which may lead to improvements in diagnosis. Finally, improved therapeutic options with an acceptable mode of administration are needed for the treatment of TRAPS.
Masson C, et.al. Joint Bone Spine. 2004;71(4):284-290.
Disclosure of Interest None declared