ESPE Abstracts (2021) 94 P1-114

1Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow, United Kingdom; 2Department of Pediatrics, dividion of Pediatric Endocrinology and Obesity Center CGG, Erasmus MC Sophia Children’s Hospital, Erasmus University Medical Center, Rotterdam, Netherlands; 3Office for Rare Conditions, University of Glasgow, Glasgow, United Kingdom; 4Department of Paediatric Endocrinology, Great Ormond Street, Hospital for Children NHS Foundation Trust, London, United Kingdom; 5Department of Pediatrics, division of Pediatric Endocrinology, University Hospital Ghent, Ghent, Belgium; 6Genetics & Genomic Medicine Programme, University College London, Great Ormond Street Insitute of Child Health, London, United Kingdom; 7Division of Auxology, Istituto Auxologico Italiano IRCCS, Milan and Verbania, Italy; 8Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children NHS Foundation Trust,, London, United Kingdom; 9IRCCS Istituto Auxologico Italiano, Milan; Department of Medical Biotechnologies and Translational Medicine, University of Milan, Milan, Italy; 10Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; 11Department of Internal Medicine, division of Endocrinology and Obesity Center CGG, Erasmus MC, Erasmus University Medical Center, Rotterdam, Netherlands; 12department of Pediatrics, division of Pediatric Endocrinology, University Hospital Ghent, Ghent, Belgium; 13Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow, Glasgow, United Kingdom; 14Office for Rare Conditions, University of Glasgow, Glasgow Department of Medicine, Division of Endocrinology, Leiden University Medical Centre, Leiden, Netherlands


Introduction: The diagnosis and treatment of patients with rare diseases is often difficult as most clinicians do not encounter them. Therefore, centralization and collaboration between centers of expertise is necessary. European Reference Networks (ERN’s) such as RareEndoERN provide a platform for this, with one of its main thematic groups having a specific focus on rare growth and obesity disorders. Genetic obesity encompasses a heterogeneous group of conditions, classically divided into non-syndromic and syndromic obesity. These disorders are rare and can be challenging to diagnose. More knowledge on clinical presentation and core features is needed. Using the EuRRECa’s e-reporting platform (e-REC) which was established in July 2018, we aimed to assess routine clinical data in order to understand the diagnostic processes and clinical outcome of cases with Genetic Obesity.

Methods: A survey was sent out to centers that registered patients with genetic obesity in the EuRRECa Registry. The questionnaire used a secure on-line tool (Webropol). All information provided was kept in compliance with the UK Data Protection Act (2018) and General Data Protection Regulation (GDPR 2016/679). No personally identifiable data were collected. Data on reporting center, diagnosis, patient characteristics, comorbidities and treatment were collected.

Results: Seven European centers registered 37 cases (35 children/2 Adults) of which 32 surveys were completed. Of these 37 cases, there were 3 Prader-Willi syndrome (PWS) and 1 pseudohypoparathyroidism (PHP) cases registered as part of the rare genetic obesity survey. 57 PWS and 44 PHP cases were also reported separately in the growth & obesity and calcium/phosphate thematic groups respectively. For our analysis, PWS and PHP cases were excluded. Diagnosis was confirmed in 78% (25/32) of which 48% was syndromic. Median age of onset was 2 years (14/29); median age at last review 12yrs; median BMI SDS +3.21. Reported clinical features included hyperphagia 67%, developmental delay 37%, endocrine dysfunction 33%; short stature 20% and tall stature 10%. Reported comorbidities were: acanthosis nigricans 26%; dyslipidemia 13%; hypertension 13%; diabetes mellitus 10%; sleep apnoea 10%; non-alcoholic liver disease 3%. Reported treatments included: diet 77%; lifestyle intervention 55%; parental coaching 26%; pharmacotherapy 26%; metformin 3%; orlistat 3%; none of the patients had bariatric surgery.

Conclusion: Using surveys through registries such as EuRRECa can enable clinicians to collaborate and collect data on genotype/phenotype and clinical outcomes in rare conditions, aiding in the development of management strategies, including clinical trials. This form of collaboration will ultimately improve patient care.

Volume 94

59th Annual ESPE (ESPE 2021 Online)

Online,
22 Sep 2021 - 26 Sep 2021

European Society for Paediatric Endocrinology 

Browse other volumes

Article tools

My recent searches

No recent searches.

My recently viewed abstracts