Experiences and Perspectives of Patients with Non-HIV-Associated Lipodystrophies and Their Caregivers: A Qualitative Study

Background Lipodystrophy comprises a group of conditions characterized by loss of functional adipose tissue, resulting in severe metabolic complications and a complex range of symptoms. Objective This study sought to gain a holistic understanding of the impact of congenital or non-human immunodeficiency virus acquired lipodystrophies on the quality of life of patients and their caregivers and to capture the impact of lipodystrophy on quality of life using a standard instrument. Methods Ten patients with lipodystrophies and five caregivers from the USA and UK were recruited through convenience sampling and interviewed using a semi-structured questionnaire containing open-ended questions about disease symptoms and attributes and numerical rating scales to prompt discussion of symptom prevalence and impact. After the interview, participants filled out the 36-Item Short Form (SF-36) survey instrument. Conventional conceptual content analysis methods were used to analyze the anonymized transcripts. Results Four concepts were developed: diagnostic journey and symptom management, burden of disease, healthcare resource utilization, and support and advocacy. Participants described lengthy diagnostic journeys and frequent interactions with healthcare systems. Many participants became experts on lipodystrophy through the diagnostic journey and described difficulties accessing effective treatment, even after diagnosis. Both patients and caregivers emphasized the ongoing burden of living with lipodystrophy and the accompanying sense of isolation. Participants turned to disease-specific support groups to cope, engaging in knowledge sharing with other patients and caregivers and developing friendships based on shared experiences. Ten participants completed the SF-36, with a mean (standard deviation) SF-36 score of 0.6 (0.2). Conclusions Currently, there are no qualitative studies that describe the experiences of patients with lipodystrophy and their caregivers. While additional research is needed, educational work like this study is a promising first step that could lead to early diagnosis and access to treatment and support.