Volwassenen met een erfelijke stofwisselingsziekte

Een sterk groeiende populatie met unieke problematiek
Stand van zaken
Namens de werkgroep INVEST

Adults with an inherited metabolic disorder: a rapidly growing population with unique challenges

  • Inherited metabolic disorders consist of a diverse group of more than 800 rare disorders.
  • Metabolic disorders used to be principally the clinical domain of paediatricians, because of their inherited character and the frequently limited life expectancy.
  • Not all metabolic disorders are revealed during childhood; a significant proportion will first appear in adulthood.
  • The number of adult patients with an inherited metabolic disorder is increasing due to improved clinical care and extended diagnostic modalities. This increase means that more medical specialties will be confronted with this patient population.
  • Adult clinical care has its own specific challenges, such as the care of patients with an inherited metabolic disorder during pregnancy.
  • Prolonged fasting, for instance around a surgical procedure, can lead to life-threatening metabolic disruption, especially when the appropriate precautions have not been taken.
  • The INVEST group is an initiative founded by Dutch and Belgian internists with the purpose of improving the care of adults patients with a metabolic disorder.

Conflict of interest and financial support: ICMJE forms provided by the authors are available online along with the full text of this article.