Background Hyper Immunoglobulin D syndrome (HIDS) is a genetic disorder characterized by recurrent attacks of fever and inflammatory symptoms and is most common in those of French or Dutch descent.1-2
Objectives To understand the impact of HIDS on the lives of patients/caregivers, to describe patient's journey from first symptoms and to learn what patients hope to emerge in terms of future therapy, support and information.
Methods Fifteen patients with HIDS were recruited across US, Europe and Australia. They completed a 20 page pre-interview questionnaire and an in-depth 90 minute in home interview. Patient responses were recorded and summarized; for patients with complete data available (n=13), responses were quantified. The topics covered in the interview were symptoms, patient journey, and unmet needs.
Results Patients reported that HIDS was characterised by symptomatic flares and periods of wellness. Flares were individualised in terms of symptoms, frequency and duration. They were typically depicted by high fevers and nausea (especially in paediatrics), as well as pain and were often so severe that patients were bed ridden. In children this led to severely disrupted education. Caregivers and adult patients reported loss of work during attacks and for medical appointments, limiting career choices and progression and leading to financial dependency. HIDS also had an impact on patients' relationships and social lives by limiting their activities either through being unwell or unable to plan ahead due to fear of an attack. Severity of symptoms, the duration and frequency of flares seemed to decrease with age and treatment. Patients frequently experienced a delay in diagnosis (range, 15 months to 20 years) during which time they were subjected to a variety of diagnostic tests for other conditions. Most patients reported initial treatment with non-steroidal anti-inflammatories, colchicine, or steroids; however, when these were ineffective they were transitioned to biological treatment. Responses to biologic agents were variable; although many reported shorter attack duration and frequency, all respondents continued to experience attacks. Around half of patients have switched biologics due to lack of efficacy. Since little information was provided to patients and parents at diagnosis regarding causes of their condition, the typical symptoms and how to treat it, most seek out information independently, usually via the internet. Patients identified improved treatment efficacy and reduced treatment side effects as the areas in greatest need of improvement in their care.
Conclusions HIDS significantly impacts the physical, social, emotional and practical/financial aspects of patients' and caregivers lives. Greater awareness of HIDS among health care professionals may improve diagnostic delays. Many patients expressed an interest in gaining a greater understanding of their disease and treatment options. There is an unmet need for therapy that prevents or reduces the number of attacks and which has patient-friendly administration.
Van der Hilst JC et al. Curr Rheumatol Rep. 2010;12(2):101-107.
Lainka E, et al. Rheumatol Int. 2012;32(10):3253-3260.
Disclosure of Interest None declared
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