Prader-Willi syndrome - care of adults in general practice

Area of Science:

• Genetics
• Endocrinology
• Primary Care Medicine

Background:

• Prader-Willi syndrome (PWS) is a severe genetic disorder with available treatments but no cure.
• Growth hormone therapy in children (up to 18 years) normalizes height and combats obesity by reducing fat mass and increasing muscle mass.
• Adult PWS management focuses on secondary complications of morbid obesity, requiring frequent general practitioner (GP) care.

Purpose of the Study:

• To address the diagnostic gap for Prader-Willi syndrome in adults.
• To provide guidance for the diagnosis and management of adult Prader-Willi syndrome.
• To highlight the role of GPs in identifying and managing undiagnosed adult PWS cases.

Main Methods:

• Literature review on Prader-Willi syndrome diagnosis and management in adults.
• Clinical characteristic analysis for adult PWS identification.
• Guideline development for GP-led PWS care.

Main Results:

• Diagnosis of Prader-Willi syndrome in adults is often delayed or missed due to uncertain clinical presentation.
• General practitioners can play a key role in recognizing and diagnosing PWS in adults.
• Timely diagnosis allows for specific interventions and management within primary care.

Conclusions:

• Improved diagnostic strategies are needed for Prader-Willi syndrome in the adult population.
• General practitioners are pivotal in the early identification of undiagnosed adult PWS cases.
• Effective management of PWS in adults can be initiated and supported in general practice settings.