What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘Internal Medicine for Rare Genetic Syndromes’

Patients with complex rare genetic syndromes (CRGS) have combined medical problems affecting multiple organ systems. Pediatric multidisciplinary (MD) care has improved life expectancy, however, transfer to internal medicine is hindered by the lack of adequate MD care for adults. We have launched an...

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Autores principales:	Anna G. W. Rosenberg, Minke R. A. Pater, Karlijn Pellikaan, Kirsten Davidse, Anja A. Kattentidt-Mouravieva, Rogier Kersseboom, Anja G. Bos-Roubos, Agnies van Eeghen, José M. C. Veen, Jiske J. van der Meulen, Nina van Aalst-van Wieringen, Franciska M. E. Hoekstra, Aart J. van der Lely, Laura C. G. de Graaff
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	syndrome intellectual disability missed diagnosis medical overuse internal medicine multidisciplinary care Medicine R
Acceso en línea:	https://doaj.org/article/aa2455e26c374c48bbe666299d23fced
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spelling	oai:doaj.org-article:aa2455e26c374c48bbe666299d23fced2021-11-25T18:03:00ZWhat Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘Internal Medicine for Rare Genetic Syndromes’10.3390/jcm102254572077-0383https://doaj.org/article/aa2455e26c374c48bbe666299d23fced2021-11-01T00:00:00Zhttps://www.mdpi.com/2077-0383/10/22/5457https://doaj.org/toc/2077-0383Patients with complex rare genetic syndromes (CRGS) have combined medical problems affecting multiple organ systems. Pediatric multidisciplinary (MD) care has improved life expectancy, however, transfer to internal medicine is hindered by the lack of adequate MD care for adults. We have launched an MD outpatient clinic providing syndrome-specific care for adults with CRGS, which, to our knowledge, is the first one worldwide in the field of internal medicine. Between 2015 and 2020, we have treated 720 adults with over 60 syndromes. Eighty-nine percent of the syndromes were associated with endocrine problems. We describe case series of missed diagnoses and patients who had undergone extensive diagnostic testing for symptoms that could actually be explained by their syndrome. Based on our experiences and review of the literature, we provide an algorithm for the clinical approach of health problems in CRGS adults. We conclude that missed diagnoses and needless invasive tests seem common in CRGS adults. Due to the increased life expectancy, an increasing number of patients with CRGS will transfer to adult endocrinology. Internist-endocrinologists (in training) should be aware of their special needs and medical pitfalls of CRGS will help prevent the burden of unnecessary diagnostics and under- and overtreatment.Anna G. W. RosenbergMinke R. A. PaterKarlijn PellikaanKirsten DavidseAnja A. Kattentidt-MouravievaRogier KersseboomAnja G. Bos-RoubosAgnies van EeghenJosé M. C. VeenJiske J. van der MeulenNina van Aalst-van WieringenFranciska M. E. HoekstraAart J. van der LelyLaura C. G. de GraaffMDPI AGarticlesyndromeintellectual disabilitymissed diagnosismedical overuseinternal medicinemultidisciplinary careMedicineRENJournal of Clinical Medicine, Vol 10, Iss 5457, p 5457 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	syndrome intellectual disability missed diagnosis medical overuse internal medicine multidisciplinary care Medicine R
spellingShingle	syndrome intellectual disability missed diagnosis medical overuse internal medicine multidisciplinary care Medicine R Anna G. W. Rosenberg Minke R. A. Pater Karlijn Pellikaan Kirsten Davidse Anja A. Kattentidt-Mouravieva Rogier Kersseboom Anja G. Bos-Roubos Agnies van Eeghen José M. C. Veen Jiske J. van der Meulen Nina van Aalst-van Wieringen Franciska M. E. Hoekstra Aart J. van der Lely Laura C. G. de Graaff What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘Internal Medicine for Rare Genetic Syndromes’
description	Patients with complex rare genetic syndromes (CRGS) have combined medical problems affecting multiple organ systems. Pediatric multidisciplinary (MD) care has improved life expectancy, however, transfer to internal medicine is hindered by the lack of adequate MD care for adults. We have launched an MD outpatient clinic providing syndrome-specific care for adults with CRGS, which, to our knowledge, is the first one worldwide in the field of internal medicine. Between 2015 and 2020, we have treated 720 adults with over 60 syndromes. Eighty-nine percent of the syndromes were associated with endocrine problems. We describe case series of missed diagnoses and patients who had undergone extensive diagnostic testing for symptoms that could actually be explained by their syndrome. Based on our experiences and review of the literature, we provide an algorithm for the clinical approach of health problems in CRGS adults. We conclude that missed diagnoses and needless invasive tests seem common in CRGS adults. Due to the increased life expectancy, an increasing number of patients with CRGS will transfer to adult endocrinology. Internist-endocrinologists (in training) should be aware of their special needs and medical pitfalls of CRGS will help prevent the burden of unnecessary diagnostics and under- and overtreatment.
format	article
author	Anna G. W. Rosenberg Minke R. A. Pater Karlijn Pellikaan Kirsten Davidse Anja A. Kattentidt-Mouravieva Rogier Kersseboom Anja G. Bos-Roubos Agnies van Eeghen José M. C. Veen Jiske J. van der Meulen Nina van Aalst-van Wieringen Franciska M. E. Hoekstra Aart J. van der Lely Laura C. G. de Graaff
author_facet	Anna G. W. Rosenberg Minke R. A. Pater Karlijn Pellikaan Kirsten Davidse Anja A. Kattentidt-Mouravieva Rogier Kersseboom Anja G. Bos-Roubos Agnies van Eeghen José M. C. Veen Jiske J. van der Meulen Nina van Aalst-van Wieringen Franciska M. E. Hoekstra Aart J. van der Lely Laura C. G. de Graaff
author_sort	Anna G. W. Rosenberg
title	What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘Internal Medicine for Rare Genetic Syndromes’
title_short	What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘Internal Medicine for Rare Genetic Syndromes’
title_full	What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘Internal Medicine for Rare Genetic Syndromes’
title_fullStr	What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘Internal Medicine for Rare Genetic Syndromes’
title_full_unstemmed	What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘Internal Medicine for Rare Genetic Syndromes’
title_sort	what every internist-endocrinologist should know about rare genetic syndromes in order to prevent needless diagnostics, missed diagnoses and medical complications: five years of ‘internal medicine for rare genetic syndromes’
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/aa2455e26c374c48bbe666299d23fced
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What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘Internal Medicine for Rare Genetic Syndromes’

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