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 journalArticle

10 Citations (Scopus)

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

Fingerprint

Gaucher Disease
Physicians
Glucosylceramidase
Hematology
Pediatrics
Oncology
Medical problems
Bone
Splenomegaly
Diagnostic Errors
Thrombocytopenia
Anemia
Enzymes
Primary Health Care
Referral and Consultation
Bone and Bones
Pain

Keywords

  • Journal Article

Cite this

Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians. / Mehta, Atul; Belmatoug, Nadia; Bembi, Bruno; Deegan, Patrick; Elstein, Deborah; Göker-Alpan, Özlem; Lukina, Elena; Mengel, Eugen; Nakamura, Kimitoshi; Pastores, Gregory M; Pérez-López, Jordi; Schwartz, Ida; Serratrice, Christine; Szer, Jeffrey; Zimran, Ari; Di Rocco, Maja; Panahloo, Zoya; Kuter, David J; Hughes, Derralynn.

In: Molecular Genetics and Metabolism, Vol. 122, No. 3, 11.2017, p. 122-129.

Research output: Contribution to journalArticle

Mehta, A, Belmatoug, N, Bembi, B, Deegan, P, Elstein, D, Göker-Alpan, Ö, Lukina, E, Mengel, E, Nakamura, K, Pastores, GM, Pérez-López, J, Schwartz, I, Serratrice, C, Szer, J, Zimran, A, Di Rocco, M, Panahloo, Z, Kuter, DJ & Hughes, D 2017, 'Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians', Molecular Genetics and Metabolism, vol. 122, no. 3, pp. 122-129. https://doi.org/10.1016/j.ymgme.2017.08.002
Mehta, Atul ; Belmatoug, Nadia ; Bembi, Bruno ; Deegan, Patrick ; Elstein, Deborah ; Göker-Alpan, Özlem ; Lukina, Elena ; Mengel, Eugen ; Nakamura, Kimitoshi ; Pastores, Gregory M ; Pérez-López, Jordi ; Schwartz, Ida ; Serratrice, Christine ; Szer, Jeffrey ; Zimran, Ari ; Di Rocco, Maja ; Panahloo, Zoya ; Kuter, David J ; Hughes, Derralynn. / Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians. In: Molecular Genetics and Metabolism. 2017 ; Vol. 122, No. 3. pp. 122-129.
@article{76e44d933035429cbf6356f784928a1c,
title = "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.",
keywords = "Journal Article",
author = "Atul Mehta and Nadia Belmatoug and Bruno Bembi and Patrick Deegan and Deborah Elstein and {\"O}zlem G{\"o}ker-Alpan and Elena Lukina and Eugen Mengel and Kimitoshi Nakamura and Pastores, {Gregory M} and Jordi P{\'e}rez-L{\'o}pez and Ida Schwartz and Christine Serratrice and Jeffrey Szer and Ari Zimran and {Di Rocco}, Maja and Zoya Panahloo and Kuter, {David J} and Derralynn Hughes",
note = "Copyright {\circledC} 2017 The Authors and Shire HGT Inc. Published by Elsevier Inc. All rights reserved.",
year = "2017",
month = "11",
doi = "10.1016/j.ymgme.2017.08.002",
language = "English",
volume = "122",
pages = "122--129",
journal = "Molecular Genetics and Metabolism",
issn = "1096-7192",
publisher = "Academic Press Inc.",
number = "3",

}

TY - JOUR

T1 - Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians

AU - Mehta, Atul

AU - Belmatoug, Nadia

AU - Bembi, Bruno

AU - Deegan, Patrick

AU - Elstein, Deborah

AU - Göker-Alpan, Özlem

AU - Lukina, Elena

AU - Mengel, Eugen

AU - Nakamura, Kimitoshi

AU - Pastores, Gregory M

AU - Pérez-López, Jordi

AU - Schwartz, Ida

AU - Serratrice, Christine

AU - Szer, Jeffrey

AU - Zimran, Ari

AU - Di Rocco, Maja

AU - Panahloo, Zoya

AU - Kuter, David J

AU - Hughes, Derralynn

N1 - Copyright © 2017 The Authors and Shire HGT Inc. Published by Elsevier Inc. All rights reserved.

PY - 2017/11

Y1 - 2017/11

N2 - 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.

AB - 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.

KW - Journal Article

U2 - 10.1016/j.ymgme.2017.08.002

DO - 10.1016/j.ymgme.2017.08.002

M3 - Article

VL - 122

SP - 122

EP - 129

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

SN - 1096-7192

IS - 3

ER -