Patients' perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy.
Eur J Endocrinol
; 190(1): 23-33, 2024 Jan 03.
Article
em En
| MEDLINE
| ID: mdl-38128113
ABSTRACT
OBJECTIVE:
Underdiagnosis is an important issue in genetic lipodystrophies, which are rare diseases with metabolic, cardiovascular, gynecological, and psychological complications. We aimed to characterize the diagnostic pathway in these diseases from the patients' perspective.DESIGN:
Cross-sectional study conducted through a self-reported patient questionnaire.METHODS:
Patients with genetic lipodystrophy were recruited throughout the French national reference network for rare diseases of insulin secretion and insulin sensitivity. Patients completed a self-reported questionnaire on disease symptoms, steps leading to the diagnosis, and healthcare professionals involved. Descriptive analyses were conducted.RESULTS:
Out of 175 eligible patients, 109 patients (84% women) were included; 93 had partial familial lipodystrophy and 16 congenital generalized lipodystrophy. Metabolic comorbidities (diabetes 68%, hypertriglyceridemia 66%, hepatic steatosis 57%), cardiovascular (hypertension 54%), and gynecologic complications (irregular menstruation 60%) were frequently reported. Median age at diagnosis was 30 years (interquartile range [IQR] 23-47). The overall diagnostic process was perceived as "very difficult" for many patients. It extended over 12 years (IQR 5-25) with more than five different physicians consulted by 36% of respondents, before diagnosis, for lipodystrophy-related symptoms. The endocrinologist made the diagnosis for 77% of the patients. Changes in morphotype were reported as the first symptoms by the majority of respondents.CONCLUSIONS:
Diagnostic pathway in patients with genetic lipodystrophy is rendered difficult by the multisystemic features of the disease and the lack of knowledge of non-specialized physicians. Training physicians to systematically include adipose tissue examination in routine clinical evaluation should improve diagnosis and management of lipodystrophy and lipodystrophy-associated comorbidities.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Lipodistrofia Generalizada Congênita
/
Lipodistrofia
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article