Introduction: Due to improved pediatric care, life expectancy of children with complex genetic syndromes (CGS) is increasing. Many children with CGS now do reach adult age and have to make the transition to adult endocrine healthcare. However, many adult endocrinologists are not yet prepared for the increasing number of adults with CGS. Although patients receive multidisciplinary (MD) care at the pediatric department, MD care is not yet available for most adults with CGS. Also, for most of the CGS, little is known about the manifestations at adult age as patients used to die before reaching adult age. As the number of CGS adults is rapidly increasing, it is important to know which medical problems we can expect and how we should treat them.
Methods: We have launched a MD outpatient clinic (OPC) for adults with rare CGS with (suspected) internal / endocrine problems. We perform thorough medical screening in all patients in order to detect and treat undetected health problems. We routinely collect clinical data to get an overview of the health problems at adult age, which are yet unknown for most CGS.
Results: In the first three years since start of the MD OPC, we have helped over 520 new CGS patients, of which 124 have Prader-Willi syndrome (PWS). We found a striking number of undetected and untreated health problems, like hypogonadism, osteoporosis, diabetes mellitus, hypothyroidism, obesity and cardiovascular disease.
Conclusion: Adults with CGS often have endocrine disorders as part of their syndrome, and therefore adult endocrinologists should know at least the basics of each syndrome. PWS is one of the CGS in which comorbidity often goes undetected due to atypical presentation of health problems. Undetected endocrine and cardiovascular problems can lead to significant morbidity and mortality. Knowledge of PWS can prevent painful and expensive complications.
18 May 2019 - 21 May 2019