Abstract / Summary
Background: Lipodystrophy syndromes are a group of rare disorders characterized by absent or atypical body fat and severe metabolic complications. They present with diverse symptoms and are often underdiagnosed or misdiagnosed. This study aimed to build on earlier qualitative research into lipodystrophy diagnosis in the UK by quantifying time to diagnosis, symptom presentation, referral patterns, and patient perceptions of their disease and care, to support earlier diagnosis of lipodystrophy. Methods: A cross-sectional online survey was conducted between November 2024 and June 2025 in collaboration with the Patient Advocacy Group, Lipodystrophy UK. Participants completed an anonymous 27-question questionnaire, and data were analyzed descriptively. Results: Forty-two respondents completed the survey. Most were female (n = 40, 95%) and aged 35–54 years (n = 23, 55%). Familial partial lipodystrophy was the most common subtype (n = 29, 69%). Most respondents (n = 22, 52%) waited over 10 years for a confirmed diagnosis. Fifteen respondents (36%) had received another diagnosis, most often diabetes (n = 5, 33%; type 1, type 2, or unspecified). The most frequent features were unusual body shape (n = 36, 86%) and insulin resistance (n = 30, 71%). Red-flag features included repeated Cushing’s disease testing, changes in diabetes type, and high insulin resistance. Thirty-four respondents (81%) felt their symptoms were missed, and 16 (38%) were dissatisfied with the time to diagnosis. Thirty-nine (93%) were seen by an endocrinologist, usually at their first or second referral. Conclusions: Lipodystrophy patients in the UK experience long and complex diagnostic journeys, with frequent misdiagnoses, highlighting the need to recognize clinical warning signs for earlier diagnosis.