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

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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)122-129
Number of pages8
JournalMolecular Genetics and Metabolism
Volume122
Issue number3
DOIs
Publication statusPublished - Nov 2017

Keywords

  • Journal Article

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