PMID- 33382737 OWN - NLM STAT- MEDLINE DCOM- 20210311 LR - 20210311 IS - 1932-6203 (Electronic) IS - 1932-6203 (Linking) VI - 15 IP - 12 DP - 2020 TI - The patient journey of patients with Fabry disease, Gaucher disease and Mucopolysaccharidosis type II: A German-wide telephone survey. PG - e0244279 LID - 10.1371/journal.pone.0244279 [doi] LID - e0244279 AB - BACKGROUND: Lysosomal Storage Diseases (LSD) are rare and multisytemic diseases which are caused by lysosomal enzyme deficiencies leading into accumulation of waste products due to an interruption in the decomposition process. Due to the low prevalence and therefore limited disease awareness as well as the fact that LSD patients present with unspecific symptoms the final diagnosis is often made after a long delay. The aim of this German-wide survey was to characterize the period between onset of symptoms and final diagnosis regarding e.g. self-perceived health, symptom burden and false diagnoses for patients with selected LSDs (Fabry disease (FD), Gaucher disease (GD) and Mucopolysaccharidosis type II (MPS II). METHODS: The study was conducted as a telephone based cross-sectional survey. All patients living in Germany with a confirmed diagnosis of FD, GD or MPS II were eligible to participate. The questionnaire was provided in advance in order to enable the participants to prepare for the interview. Only descriptive analyses were carried out. Single analyses were not carried out for all three patient groups due low case numbers. RESULTS: Of the overall population, 39 patients have been diagnosed with FD, 19 with GD and 11 with MPS II with the majority of patients being index patients. The majority of FD patients reported their current health status as "satisfactory" or better (79.5%). Self-perceived health status was observed to be at least stable or improving for the majority of FD patients compared to the year prior to diagnosis. The most frequently reported symptoms for patients with FD were paraesthesias (51.3%), whereas patients with GD reported a tendency for bleeding, blue spots or coagulation disorder (63.2%) as well as hepatomegaly and/or splenomegaly (63.2%) as the most commonly appearing symptoms. The number of patients reporting misdiagnoses was n = 5 (13.5%) for patients with FD and n = 5 (27.8%) for patients with GD. The median duration of the diagnostic delay was 21.0 years for FD, 20.0 years for GD and 2.0 years for MPS II. CONCLUSIONS: This study showed that self-perceived status of health for patients might improve once the final correct diagnoses has been made and specific treatment was available. Furthermore, it was observed that diagnostic delay is still high in Germany for a relevant proportion of affected patients. Further challenges in the future will still be to increase awareness for these diseases across the entire healthcare sector to minimize the diagnostic delay. FAU - Mengel, Eugen AU - Mengel E AD - SphinCS GmbH - Clinical Science for LSD, Hochheim, Germany. AD - Universitatsmedizin Mainz, Zentrum fur Kinder- und Jugendmedizin, Villa Metabolica, Mainz, Germany. FAU - Gaedeke, Jens AU - Gaedeke J AD - Charite - Universitatsmedizin Berlin, Klinik fur Nephrologie und Intensivmedizin, Berlin, Germany. FAU - Gothe, Holger AU - Gothe H AD - IGES Institut GmbH, Department Health Services Research, Berlin, Germany. AD - Chair for Health Sciences / Public Health, Medical Faculty "Carl Gustav Carus", Technical University Dresden, Dresden, Germany. AD - Department of Public Health, Institute of Public Health, Medical Decision Making and Health Technology Assessment, Health Services Research and Health Technology Assessment, UMIT - University for Health Sciences, Medical Informatics and Technology, Tyrol, Austria. FAU - Krupka, Simon AU - Krupka S AD - IGES Institut GmbH, Department Health Services Research, Berlin, Germany. FAU - Lachmann, Anja AU - Lachmann A AD - Shire Deutschland GmbH, Berlin, Germany. FAU - Reinke, Jorg AU - Reinke J AD - Universitatsmedizin Mainz, Zentrum fur Kinder- und Jugendmedizin, Villa Metabolica, Mainz, Germany. AD - Medizinische Zentrum fur Erwachsene mit Behinderung (MZEB) der Kreuznacher Diakonie, Bad Kreuznach, Germany. FAU - Ohlmeier, Christoph AU - Ohlmeier C AUID- ORCID: 0000-0002-2868-5211 AD - IGES Institut GmbH, Department Health Services Research, Berlin, Germany. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20201231 PL - United States TA - PLoS One JT - PloS one JID - 101285081 SB - IM MH - Adolescent MH - Adult MH - Aged MH - Aged, 80 and over MH - Child MH - Child, Preschool MH - Cross-Sectional Studies MH - Delayed Diagnosis/*prevention & control/trends MH - Fabry Disease/diagnosis MH - Female MH - Gaucher Disease/diagnosis MH - Germany/epidemiology MH - Glycogen Storage Disease Type II/diagnosis MH - Humans MH - Infant MH - Lysosomal Storage Diseases/*diagnosis MH - Male MH - Middle Aged MH - Mucopolysaccharidosis II/diagnosis MH - Surveys and Questionnaires MH - Time-to-Treatment/*statistics & numerical data/trends PMC - PMC7775043 COIS- Eugen Mengel received consulting fees and speakers honoraria from Sanofi Genzyme, Alexion, Orphazyme and Prevail. Eugen Mengel also received honoraria from Shire Deutschland GmbH to contribute his clinical expertise to this study. Jens Gaedeke has received honoraria from Amicus Therapeutics, Novartis, Sanofi, Roche. Jens Gaedeke also received honoraria from Shire Deutschland GmbH to contribute his clinical expertise to this study. Jorg Reinke received honoraria from BioMarin Pharmaceutical Inc., Genzyme, and Actelion. Jorg Reinke also received honoraria from Shire Deutschland GmbH to contribute his clinical expertise to this study. Holger Gothe is employed by IGES Institut GmbH; Simon Krupka and Christoph Ohlmeier were employed by IGES Institut GmbH at the time the study was performed. IGES Institut GmbH received funding from Shire Deutschland GmbH for the execution of the study and manuscript preparation. Anja Lachmann is employed by Shire Deutschland GmbH. These commercial affiliations do not alter the authors' adherence to PLOS ONE policies on sharing data and materials. EDAT- 2021/01/01 06:00 MHDA- 2021/03/12 06:00 PMCR- 2020/12/31 CRDT- 2020/12/31 17:09 PHST- 2020/03/25 00:00 [received] PHST- 2020/12/07 00:00 [accepted] PHST- 2020/12/31 17:09 [entrez] PHST- 2021/01/01 06:00 [pubmed] PHST- 2021/03/12 06:00 [medline] PHST- 2020/12/31 00:00 [pmc-release] AID - PONE-D-20-08587 [pii] AID - 10.1371/journal.pone.0244279 [doi] PST - epublish SO - PLoS One. 2020 Dec 31;15(12):e0244279. doi: 10.1371/journal.pone.0244279. eCollection 2020.