Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians.

Abstract

Gaucher disease (GD) is a rare hereditary disorder caused by a deficiency of the lysosomal enzyme β-glucocerebrosidase. Diagnosis is challenging owing to a wide variability in clinical manifestations and severity of symptoms. Many patients may experience marked delays in obtaining a definitive diagnosis. The two surveys reported herein aimed to explore the patient journey to diagnosis of GD from the perspectives of Gaucher expert physicians and patients. Findings from the surveys revealed that many patients experienced diagnostic delays and misdiagnoses, with nearly 1 in 6 patients stating that they were not diagnosed with GD for 7years or more after first consulting a doctor. Physicians and patients both reported multiple referrals to different specialties before a diagnosis of GD was obtained, with primary care, haematology/haematology-oncology and paediatrics the main specialties to which patients first presented. Splenomegaly, thrombocytopenia, anaemia and bone pain were reported as the most common medical problems at first presentation in both surveys. These findings support a clear need for straightforward and easy-to-follow guidance designed to assist non-specialists to identify earlier patients who are at risk of GD.

• Authors: Atul Mehta, Nadia Belmatoug, Bruno Bembi, Patrick Deegan, Deborah Elstein, Özlem Göker-Alpan, Elena Lukina, Eugen Mengel, Kimitoshi Nakamura, Gregory M Pastores, Jordi Pérez-López, Ida Schwartz, Christine Serratrice, Jeffrey Szer, Ari Zimran, Maja Di Rocco, Zoya Panahloo, David J Kuter, Derralynn Hughes
• Journal: Molecular genetics and metabolism (Mol Genet Metab) Vol. 122 Issue 3 Pg. 122-129 (11 2017) ISSN: 1096-7206 [Electronic] United States
• PMID: 28847676 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2017 The Authors and Shire HGT Inc. Published by Elsevier Inc. All rights reserved.

Topics

• Child
• Delayed Diagnosis
• Gaucher Disease (diagnosis)
• Humans
• Male
• Medicine (statistics & numerical data)
• Patients (psychology)
• Physicians (psychology)
• Risk Factors
• Surveys and Questionnaires