A qualitative assessment of patient journeys to a lipodystrophy diagnosis

Lipodystrophy syndromes are a group of very rare disorders characterized by a deficiency of adipose tissue, that can present with a broad range of symptoms. Delays in diagnosis are common, which can lead to potentially serious metabolic complications, high morbidity and poor quality of life. Sixty-minute semi-structured interviews were conducted and objective analysis of transcribed responses performed in this qualitative assessment. Twelve individuals from across the UK with a lipodystrophy diagnosis (female 11/12) were included; familial partial lipodystrophy (10/12), congenital generalized lipodystrophy (1/12) and mandibular dysplasia with deafness and progeroid features (MDP) syndrome (1/12). The patient journey to lipodystrophy diagnosis can be long despite exhibiting signs and symptoms from a young age; age at diagnosis ranged from 16–60 years. Diagnosis was generally quicker in patients identified through family screening, whereas diagnosis took several years for those without a known familial case. Six participants were examined undressed, which in four cases helped lead to a diagnosis of lipodystrophy, although it was not always identified immediately. Some 'red flags' were identified in this analysis relating to insulin resistance and diabetes status, high blood pressure, and multiple negative tests for Cushing's Disease, which may serve to raise suspicion of lipodystrophy diagnosis and trigger further investigations. Reaching a diagnosis of lipodystrophy may take years and is often too dependent on physicians' experience of the disease and determined individuals. Increased awareness and recognition of lipodystrophy syndromes may facilitate earlier diagnosis, better management and improved patient outcomes. • Lipodystrophy diagnosis is dependent on determined individuals and chance events • Certain identified red flags warrant greater attention from healthcare professionals • When patients are examined undressed it often leads to a lipodystrophy diagnosis