What endocrinologists can do to prevent cardiovascular complications in adults with Prader-Willi syndrome: Lessons from a case series.

ABSTRACT:

Context

Prader-Willi syndrome (PWS) is a complex rare genetic syndrome. Mortality in patients with PWS is 3% per year. In nearly half of the patients, the cause of death is of cardiopulmonary origin. Prevention, diagnosis and treatment of cardiovascular (CV) disease in PWS adults is complicated by the behavioral phenotype, reduced ability to express physical complaints, high pain threshold and obesity.

Objective

To describe the challenges in prevention, diagnosis and treatment of CV disease in PWS adults, in order to increase awareness and improve medical care.

Methods

Retrospective study of medical records of adults visiting the Dutch PWS reference center.

Results

We describe the challenges encountered during diagnosis and treatment of four PWS adults with hea

SUBMITTER: Pellikaan K 

PROVIDER: S-EPMC10080071 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature