A jornada do paciente com lipodistrofia generalizada congênita: aspectos clínicos e história natural da doença

Abstract

Congenital generalized lipodystrophy (CGL) is a rare disease characterized by the near- complete absence of adipose tissue from birth, associated with early and severe metabolic

abnormalities. The healthcare trajectory of these patients is often marked by diagnostic delay and limited access to specialized services. This study aimed to analyze the diagnostic journey of patients with CGL followed at a referral center, identifying healthcare barriers and factors related to access to and continuity of care. This cross-sectional study included patients diagnosed with CGL who were followed at a referral center in Ceará, Brazil. Sociodemographic, clinical, and healthcare trajectory-related variables were analyzed. The diagnostic journey was defined as the interval between the onset of the first clinical manifestations and the initiation of specialized follow-up. Statistical analyses included descriptive statistics and non-parametric tests, adopting a significance level of 5%. A total of 27 patients were included, with a predominance of the CGL1 subtype (66.7%) and female sex (63%). The mean age at the first recognition of clinical changes was approximately 2 years, whereas the mean age at diagnosis was 8 years, demonstrating a substantial diagnostic delay. Follow-up at the referral center began at a mean age of 13 years, indicating an additional interval after diagnosis before specialized care was initiated. A significant association was observed between greater geographic distance and increased reliance on institutional transportation (p = 0.001). The diagnostic journey of patients with CGL is characterized by diagnostic delay and fragmented care, influenced by geographic and organizational factors. These findings highlight the need for strategies aimed at strengthening the healthcare network, particularly Primary Health Care, expanding family cascade screening, and organizing integrated care pathways to reduce the time to diagnosis and improve continuity of care.