Elly Scheermeyer1. 1. Faculty of Health Sciences & Medicine, Bond University and School of Medicine, Universityof Queensland, Brisbane, Queensland. e.scheermeyer@uq.edu.au
Abstract
BACKGROUND: Prader-Willi syndrome is a severely disabling genetic condition. Treatments are available, but there is no cure. Children aged up to 18 years may benefit from growth hormone treatment, which normalises height and assists in preventing obesity by decreasing fat mass and increasing muscle mass and physical ability. Adults, however, are treated predominantly for the many disabling secondary complications of the morbid obesity characteristic of this syndrome, and therefore require frequent care from their general practitioner. OBJECTIVE: Despite improvements in the genetic diagnosis of infants with Prader-Willi syndrome, diagnosis in adults appears to be lacking or is based on uncertain clinical characteristics. This article provides information and advice that may assist in the diagnosis and management of Prader-Willi syndrome in adults. DISCUSSION: The GP can play an important role in identifying Prader-Willi syndrome among adult patients who may have remained undiagnosed. Specific care and treatments can then be provided in the general practice setting.
BACKGROUND:Prader-Willi syndrome is a severely disabling genetic condition. Treatments are available, but there is no cure. Children aged up to 18 years may benefit from growth hormone treatment, which normalises height and assists in preventing obesity by decreasing fat mass and increasing muscle mass and physical ability. Adults, however, are treated predominantly for the many disabling secondary complications of the morbid obesity characteristic of this syndrome, and therefore require frequent care from their general practitioner. OBJECTIVE: Despite improvements in the genetic diagnosis of infants with Prader-Willi syndrome, diagnosis in adults appears to be lacking or is based on uncertain clinical characteristics. This article provides information and advice that may assist in the diagnosis and management of Prader-Willi syndrome in adults. DISCUSSION: The GP can play an important role in identifying Prader-Willi syndrome among adult patients who may have remained undiagnosed. Specific care and treatments can then be provided in the general practice setting.