Patients' perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy - Sorbonne Université Access content directly
Journal Articles European Journal of Endocrinology Year : 2024

Patients' perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy

Héléna Mosbah
Camille Vatier
Béatrice Andriss
  • Function : Author
Inès Belalem
  • Function : Author
Brigitte Delemer
Sonja Janmaat
  • Function : Author
Isabelle Jéru
  • Function : Author
Lauriane Le Collen
  • Function : Author
Dominique Maiter
  • Function : Author
Estelle Nobécourt
  • Function : Author
Marie-Christine Vantyghem
  • Function : Author
Sophie Béliard
  • Function : Author
Claire Briet
  • Function : Author
Bruno Donadille
  • Function : Author
Noémie Dubois
  • Function : Author
Olivier Gilly
  • Function : Author
Stéphanie Jelliman
  • Function : Author
Julie Maître
  • Function : Author
Yves Reznik
  • Function : Author
Frédérique Rimareix
  • Function : Author
Bruno Vergès
  • Function : Author
Agnes Dumas
  • Function : Author

Abstract

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.

Dates and versions

hal-04455976 , version 1 (13-02-2024)

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Héléna Mosbah, Camille Vatier, Béatrice Andriss, Inès Belalem, Brigitte Delemer, et al.. Patients' perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy. European Journal of Endocrinology, 2024, 190 (1), pp.23-33. ⟨10.1093/ejendo/lvad169⟩. ⟨hal-04455976⟩
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