[Diagnostic management of patients with rare genetic diseases: example of five pathologies]

Rev Epidemiol Sante Publique. 2001 Sep;49(4):357-66.
[Article in French]


Background: Orphan diseases are serious and unknown chronic diseases, for which a rapid diagnosis may provide a better access to healthcare. The aim of this study was to describe the procedures of diagnosis for patients with such ailments.

Methods: Self-administered questionnaires describing patient's behavior, medical examinations until the final diagnosis, as well as received medical care and financial support, were directly sent to the patients through patient associations and special examinations dedicated to rare diseases.

Results: 532 patients were included, suffering from 5 different diseases. Although the average delay between the appearance of symptoms and diagnosis is 2 years and 8 months, this hides great disparities (from 0 to 40 years) and half of the patients were diagnosed within 4 months. The study shows that the diagnosis management is influenced by the illness and its symptoms as well as by the characteristics of the first medical examination.

Conclusions: The diagnosis management of patients with rare diseases is strongly determined by personnel initiatives or exceptional opportunities, rather than by a real organisational strategy of the healthcare system.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age Distribution
  • Attitude to Health
  • Child
  • Chronic Disease
  • Female
  • France / epidemiology
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / epidemiology
  • Genetic Diseases, Inborn / genetics
  • Humans
  • Male
  • Metabolic Diseases / diagnosis*
  • Metabolic Diseases / epidemiology
  • Metabolic Diseases / genetics
  • Oculocerebrorenal Syndrome / diagnosis*
  • Oculocerebrorenal Syndrome / epidemiology
  • Oculocerebrorenal Syndrome / genetics
  • Osteogenesis Imperfecta / diagnosis*
  • Osteogenesis Imperfecta / epidemiology
  • Osteogenesis Imperfecta / genetics
  • Quality of Health Care
  • Residence Characteristics / statistics & numerical data
  • Surveys and Questionnaires
  • Time Factors
  • Tourette Syndrome / diagnosis*
  • Tourette Syndrome / epidemiology
  • Tourette Syndrome / genetics
  • von Hippel-Lindau Disease / diagnosis*
  • von Hippel-Lindau Disease / epidemiology
  • von Hippel-Lindau Disease / genetics