Christiane Stieber1,2, Martin Mücke3,4,5, Isabelle C Windheuser6, Lorenz Grigull7, Frank Klawonn8,9, Sinem Tunc10, Alexander Münchau10, Thomas Klockgether6,11,12. 1. Zentrum für seltene Erkrankungen Bonn (ZSEB), Universitätsklinikum Bonn, Biomedizinisches Zentrum (BMZ), Sigmund-Freud-Straße 25, 53127, Bonn, Deutschland. cstieber@uni-bonn.de. 2. Institut für Humangenetik, Universitätsklinikum Bonn, Bonn, Deutschland. cstieber@uni-bonn.de. 3. Zentrum für seltene Erkrankungen Bonn (ZSEB), Universitätsklinikum Bonn, Biomedizinisches Zentrum (BMZ), Sigmund-Freud-Straße 25, 53127, Bonn, Deutschland. muecke@uni-bonn.de. 4. Institut für Hausarztmedizin, Universität Bonn, Bonn, Deutschland. muecke@uni-bonn.de. 5. Klinik für Palliativmedizin, Universitätsklinikum Bonn, Bonn, Deutschland. muecke@uni-bonn.de. 6. Zentrum für seltene Erkrankungen Bonn (ZSEB), Universitätsklinikum Bonn, Biomedizinisches Zentrum (BMZ), Sigmund-Freud-Straße 25, 53127, Bonn, Deutschland. 7. Pädiatrische Hämatologie und Onkologie, Medizinische Hochschule Hannover, Hannover, Deutschland. 8. Helmholtz-Zentrum für Infektionsforschung, Braunschweig, Deutschland. 9. Ostwestfalia-Hochschule, Wolfenbüttel, Deutschland. 10. Zentrum für Seltene Erkrankungen Lübeck, Universitätsklinikum Schleswig-Holstein, Lübeck, Deutschland. 11. Klinik für Neurologie, Universitätsklinikum Bonn, Bonn, Deutschland. 12. Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Bonn, Deutschland.
Abstract
BACKGROUND: Patients, who have spent many years without a proper diagnosis present an extraordinary problem to health care providers and to the healthcare system as a whole. A long 'diagnostic journey' increases the risk of disease chronification, as well as the number of therapy attempts, which could lead to iatrogenic impairment. New resources and specialized health care departments are being developed to help and support this patient group. One example of such department is the Interdisciplinary Competence Unit for Patients without a Diagnosis at the center for rare diseases in Bonn (ZSEB), Germany. OBJECTIVE: To shed light on the current health care management of patients without a diagnosis and to present an established directive to optimize the care for this patient group, as practiced at the InterPoD. METHODS: Showcase of directives and advice for the health care management of long-term patients without a diagnosis. RESULTS: Sociodemographic and clinical characteristics based on the treated patient collective at the InterPoD along with their directives, from the years 2014 to 2016. DISCUSSION: The descriptive statistics and the increasing number of treated patients are a first indication of the usefulness of InterPoD-related processes.
BACKGROUND:Patients, who have spent many years without a proper diagnosis present an extraordinary problem to health care providers and to the healthcare system as a whole. A long 'diagnostic journey' increases the risk of disease chronification, as well as the number of therapy attempts, which could lead to iatrogenic impairment. New resources and specialized health care departments are being developed to help and support this patient group. One example of such department is the Interdisciplinary Competence Unit for Patients without a Diagnosis at the center for rare diseases in Bonn (ZSEB), Germany. OBJECTIVE: To shed light on the current health care management of patients without a diagnosis and to present an established directive to optimize the care for this patient group, as practiced at the InterPoD. METHODS: Showcase of directives and advice for the health care management of long-term patients without a diagnosis. RESULTS: Sociodemographic and clinical characteristics based on the treated patient collective at the InterPoD along with their directives, from the years 2014 to 2016. DISCUSSION: The descriptive statistics and the increasing number of treated patients are a first indication of the usefulness of InterPoD-related processes.
Entities:
Keywords:
Center for rare diseases; InterPoD; Patients without a diagnosis; Rare diseases; Rare illnesses
Authors: Larissa Wester; Martin Mücke; Tim Theodor Albert Bender; Julia Sellin; Frank Klawonn; Rupert Conrad; Natasza Szczypien Journal: Orphanet J Rare Dis Date: 2020-11-17 Impact factor: 4.123