Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians.
Identifieur interne : 000C48 ( Main/Exploration ); précédent : 000C47; suivant : 000C49Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians.
Auteurs : Atul Mehta [Royaume-Uni] ; Nadia Belmatoug [France] ; Bruno Bembi [Italie] ; Patrick Deegan [Royaume-Uni] ; Deborah Elstein [Suisse] ; Özlem Göker-Alpan [États-Unis] ; Elena Lukina [Russie] ; Eugen Mengel [Allemagne] ; Kimitoshi Nakamura [Japon] ; Gregory M. Pastores [Irlande (pays)] ; Jordi Pérez-L Pez [Espagne] ; Ida Schwartz [Brésil] ; Christine Serratrice [Suisse] ; Jeffrey Szer [Australie] ; Ari Zimran [Israël] ; Maja Di Rocco [Italie] ; Zoya Panahloo [Suisse] ; David J. Kuter [États-Unis] ; Derralynn Hughes [Royaume-Uni]Source :
- Molecular genetics and metabolism [ 1096-7206 ] ; 2017.
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.
DOI: 10.1016/j.ymgme.2017.08.002
PubMed: 28847676
Affiliations:
- Allemagne, Australie, Brésil, Espagne, France, Irlande (pays), Israël, Italie, Japon, Royaume-Uni, Russie, Suisse, États-Unis
- Angleterre, Catalogne, District fédéral central, Grand Londres, Massachusetts, Rhénanie-Palatinat, Rio Grande do Sul, Virginie
- Barcelone, Londres, Mayence, Moscou, Porto Alegre
- Université fédérale du Rio Grande do Sul
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Electronic address: atul.mehta1@nhs.net.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital, UCL Medical School, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Belmatoug, Nadia" sort="Belmatoug, Nadia" uniqKey="Belmatoug N" first="Nadia" last="Belmatoug">Nadia Belmatoug</name><affiliation wicri:level="1"><nlm:affiliation>Referral Centre for Lysosomal Diseases, University Hospital Paris Nord Val de Seine, Clichy, France. Electronic address: nadia.belmatoug@bjn.aphp.fr.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Referral Centre for Lysosomal Diseases, University Hospital Paris Nord Val de Seine, Clichy</wicri:regionArea><wicri:noRegion>Clichy</wicri:noRegion><wicri:noRegion>Clichy</wicri:noRegion></affiliation></author><author><name sortKey="Bembi, Bruno" sort="Bembi, Bruno" uniqKey="Bembi B" first="Bruno" last="Bembi">Bruno Bembi</name><affiliation wicri:level="1"><nlm:affiliation>Academic Medical Centre Hospital of Udine, Regional Coordinator Centre for Rare Diseases, Udine, Italy. Electronic address: bembi.bruno@aoud.sanita.fvg.it.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Academic Medical Centre Hospital of Udine, Regional Coordinator Centre for Rare Diseases, Udine</wicri:regionArea><wicri:noRegion>Udine</wicri:noRegion></affiliation></author><author><name sortKey="Deegan, Patrick" sort="Deegan, Patrick" uniqKey="Deegan P" first="Patrick" last="Deegan">Patrick Deegan</name><affiliation wicri:level="1"><nlm:affiliation>Addenbrooke's Hospital, Cambridge, UK. Electronic address: patrick.deegan@addenbrookes.nhs.uk.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Addenbrooke's Hospital, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Elstein, Deborah" sort="Elstein, Deborah" uniqKey="Elstein D" first="Deborah" last="Elstein">Deborah Elstein</name><affiliation wicri:level="1"><nlm:affiliation>Shire, Zug, Switzerland. Electronic address: delstein-c@shire.com.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Shire, Zug</wicri:regionArea><wicri:noRegion>Zug</wicri:noRegion></affiliation></author><author><name sortKey="Goker Alpan, Ozlem" sort="Goker Alpan, Ozlem" uniqKey="Goker Alpan O" first="Özlem" last="Göker-Alpan">Özlem Göker-Alpan</name><affiliation wicri:level="2"><nlm:affiliation>Lysosomal Disorders Unit and Center for Clinical Trials, O&O Alpan, LLC, Fairfax, VA, USA. Electronic address: zalpan@aol.com.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Lysosomal Disorders Unit and Center for Clinical Trials, O&O Alpan, LLC, Fairfax, VA</wicri:regionArea><placeName><region type="state">Virginie</region></placeName></affiliation></author><author><name sortKey="Lukina, Elena" sort="Lukina, Elena" uniqKey="Lukina E" first="Elena" last="Lukina">Elena Lukina</name><affiliation wicri:level="3"><nlm:affiliation>National Research Center for Hematology, Moscow, Russia. Electronic address: elenalukina02@gmail.com.</nlm:affiliation><country xml:lang="fr">Russie</country><wicri:regionArea>National Research Center for Hematology, Moscow</wicri:regionArea><placeName><settlement type="city">Moscou</settlement><region>District fédéral central</region></placeName></affiliation></author><author><name sortKey="Mengel, Eugen" sort="Mengel, Eugen" uniqKey="Mengel E" first="Eugen" last="Mengel">Eugen Mengel</name><affiliation wicri:level="3"><nlm:affiliation>Villa Metabolica, Center for Pediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg-University, Mainz, Germany. Electronic address: Karl-Eugen.Mengel@unimedizin-mainz.de.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Villa Metabolica, Center for Pediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg-University, Mainz</wicri:regionArea><placeName><region type="land" nuts="2">Rhénanie-Palatinat</region><settlement type="city">Mayence</settlement></placeName></affiliation></author><author><name sortKey="Nakamura, Kimitoshi" sort="Nakamura, Kimitoshi" uniqKey="Nakamura K" first="Kimitoshi" last="Nakamura">Kimitoshi Nakamura</name><affiliation wicri:level="1"><nlm:affiliation>Kumamoto University Hospital, Kumamoto, Japan. Electronic address: nakamura@kumamoto-u.ac.jp.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Kumamoto University Hospital, Kumamoto</wicri:regionArea><wicri:noRegion>Kumamoto</wicri:noRegion></affiliation></author><author><name sortKey="Pastores, Gregory M" sort="Pastores, Gregory M" uniqKey="Pastores G" first="Gregory M" last="Pastores">Gregory M. Pastores</name><affiliation wicri:level="1"><nlm:affiliation>University College Dublin, and Mater Misericordiae University Hospital, Dublin, Ireland. Electronic address: gpastores@mater.ie.</nlm:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>University College Dublin, and Mater Misericordiae University Hospital, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Perez L Pez, Jordi" sort="Perez L Pez, Jordi" uniqKey="Perez L Pez J" first="Jordi" last="Pérez-L Pez">Jordi Pérez-L Pez</name><affiliation wicri:level="3"><nlm:affiliation>Unit of Rare Diseases, Hospital Vall d'Hebron, Barcelona, Spain. Electronic address: jordperez@vhebron.net.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Unit of Rare Diseases, Hospital Vall d'Hebron, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Schwartz, Ida" sort="Schwartz, Ida" uniqKey="Schwartz I" first="Ida" last="Schwartz">Ida Schwartz</name><affiliation wicri:level="4"><nlm:affiliation>Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil. Electronic address: idadschwartz@gmail.com.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul</wicri:regionArea><placeName><region type="state">Rio Grande do Sul</region><settlement type="city">Porto Alegre</settlement></placeName><orgName type="university">Université fédérale du Rio Grande do Sul</orgName></affiliation></author><author><name sortKey="Serratrice, Christine" sort="Serratrice, Christine" uniqKey="Serratrice C" first="Christine" last="Serratrice">Christine Serratrice</name><affiliation wicri:level="1"><nlm:affiliation>Foundation Hospital Saint Joseph, Marseille, France and Geneva University Hospital, Thonex, Switzerland. Electronic address: cserratrice@hopital-saint-joseph.fr.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Foundation Hospital Saint Joseph, Marseille, France and Geneva University Hospital, Thonex</wicri:regionArea><wicri:noRegion>Thonex</wicri:noRegion></affiliation></author><author><name sortKey="Szer, Jeffrey" sort="Szer, Jeffrey" uniqKey="Szer J" first="Jeffrey" last="Szer">Jeffrey Szer</name><affiliation wicri:level="1"><nlm:affiliation>Royal Melbourne Hospital, Parkville, Victoria, Australia. Electronic address: Jeff.Szer@mh.org.au.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Royal Melbourne Hospital, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Zimran, Ari" sort="Zimran, Ari" uniqKey="Zimran A" first="Ari" last="Zimran">Ari Zimran</name><affiliation wicri:level="1"><nlm:affiliation>Gaucher Clinic, Shaare Zedek Medical Center, affiliated with the Hebrew University-Hadassah Medical School, Jerusalem, Israel. Electronic address: azimran@gmail.com.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Gaucher Clinic, Shaare Zedek Medical Center, affiliated with the Hebrew University-Hadassah Medical School, Jerusalem</wicri:regionArea><wicri:noRegion>Jerusalem</wicri:noRegion></affiliation></author><author><name sortKey="Di Rocco, Maja" sort="Di Rocco, Maja" uniqKey="Di Rocco M" first="Maja" last="Di Rocco">Maja Di Rocco</name><affiliation wicri:level="1"><nlm:affiliation>Unit of Rare Diseases, Department of Pediatrics, Giannina Gaslini Institute, Genoa, Italy. Electronic address: Majadirocco@gaslini.org.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Unit of Rare Diseases, Department of Pediatrics, Giannina Gaslini Institute, Genoa</wicri:regionArea><wicri:noRegion>Genoa</wicri:noRegion></affiliation></author><author><name sortKey="Panahloo, Zoya" sort="Panahloo, Zoya" uniqKey="Panahloo Z" first="Zoya" last="Panahloo">Zoya Panahloo</name><affiliation wicri:level="1"><nlm:affiliation>Shire, Zug, Switzerland. Electronic address: zpanahloo@shire.com.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Shire, Zug</wicri:regionArea><wicri:noRegion>Zug</wicri:noRegion></affiliation></author><author><name sortKey="Kuter, David J" sort="Kuter, David J" uniqKey="Kuter D" first="David J" last="Kuter">David J. Kuter</name><affiliation wicri:level="2"><nlm:affiliation>Center for Hematology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: DKUTER@mgh.harvard.edu.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Hematology, Massachusetts General Hospital, Harvard Medical School, Boston, MA</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Hughes, Derralynn" sort="Hughes, Derralynn" uniqKey="Hughes D" first="Derralynn" last="Hughes">Derralynn Hughes</name><affiliation wicri:level="3"><nlm:affiliation>Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital, UCL Medical School, London, UK. Electronic address: rmgvdah@ucl.ac.uk.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital, UCL Medical School, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28847676</idno><idno type="pmid">28847676</idno><idno type="doi">10.1016/j.ymgme.2017.08.002</idno><idno type="wicri:Area/PubMed/Corpus">000773</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000773</idno><idno type="wicri:Area/PubMed/Curation">000770</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000770</idno><idno type="wicri:Area/PubMed/Checkpoint">000770</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000770</idno><idno type="wicri:Area/Ncbi/Merge">004D52</idno><idno type="wicri:Area/Ncbi/Curation">004D52</idno><idno type="wicri:Area/Ncbi/Checkpoint">004D52</idno><idno type="wicri:Area/Main/Merge">000C43</idno><idno type="wicri:Area/Main/Curation">000C48</idno><idno type="wicri:Area/Main/Exploration">000C48</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians.</title><author><name sortKey="Mehta, Atul" sort="Mehta, Atul" uniqKey="Mehta A" first="Atul" last="Mehta">Atul Mehta</name><affiliation wicri:level="3"><nlm:affiliation>Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital, UCL Medical School, London, UK. Electronic address: atul.mehta1@nhs.net.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital, UCL Medical School, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Belmatoug, Nadia" sort="Belmatoug, Nadia" uniqKey="Belmatoug N" first="Nadia" last="Belmatoug">Nadia Belmatoug</name><affiliation wicri:level="1"><nlm:affiliation>Referral Centre for Lysosomal Diseases, University Hospital Paris Nord Val de Seine, Clichy, France. Electronic address: nadia.belmatoug@bjn.aphp.fr.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Referral Centre for Lysosomal Diseases, University Hospital Paris Nord Val de Seine, Clichy</wicri:regionArea><wicri:noRegion>Clichy</wicri:noRegion><wicri:noRegion>Clichy</wicri:noRegion></affiliation></author><author><name sortKey="Bembi, Bruno" sort="Bembi, Bruno" uniqKey="Bembi B" first="Bruno" last="Bembi">Bruno Bembi</name><affiliation wicri:level="1"><nlm:affiliation>Academic Medical Centre Hospital of Udine, Regional Coordinator Centre for Rare Diseases, Udine, Italy. Electronic address: bembi.bruno@aoud.sanita.fvg.it.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Academic Medical Centre Hospital of Udine, Regional Coordinator Centre for Rare Diseases, Udine</wicri:regionArea><wicri:noRegion>Udine</wicri:noRegion></affiliation></author><author><name sortKey="Deegan, Patrick" sort="Deegan, Patrick" uniqKey="Deegan P" first="Patrick" last="Deegan">Patrick Deegan</name><affiliation wicri:level="1"><nlm:affiliation>Addenbrooke's Hospital, Cambridge, UK. Electronic address: patrick.deegan@addenbrookes.nhs.uk.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Addenbrooke's Hospital, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Elstein, Deborah" sort="Elstein, Deborah" uniqKey="Elstein D" first="Deborah" last="Elstein">Deborah Elstein</name><affiliation wicri:level="1"><nlm:affiliation>Shire, Zug, Switzerland. Electronic address: delstein-c@shire.com.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Shire, Zug</wicri:regionArea><wicri:noRegion>Zug</wicri:noRegion></affiliation></author><author><name sortKey="Goker Alpan, Ozlem" sort="Goker Alpan, Ozlem" uniqKey="Goker Alpan O" first="Özlem" last="Göker-Alpan">Özlem Göker-Alpan</name><affiliation wicri:level="2"><nlm:affiliation>Lysosomal Disorders Unit and Center for Clinical Trials, O&O Alpan, LLC, Fairfax, VA, USA. Electronic address: zalpan@aol.com.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Lysosomal Disorders Unit and Center for Clinical Trials, O&O Alpan, LLC, Fairfax, VA</wicri:regionArea><placeName><region type="state">Virginie</region></placeName></affiliation></author><author><name sortKey="Lukina, Elena" sort="Lukina, Elena" uniqKey="Lukina E" first="Elena" last="Lukina">Elena Lukina</name><affiliation wicri:level="3"><nlm:affiliation>National Research Center for Hematology, Moscow, Russia. Electronic address: elenalukina02@gmail.com.</nlm:affiliation><country xml:lang="fr">Russie</country><wicri:regionArea>National Research Center for Hematology, Moscow</wicri:regionArea><placeName><settlement type="city">Moscou</settlement><region>District fédéral central</region></placeName></affiliation></author><author><name sortKey="Mengel, Eugen" sort="Mengel, Eugen" uniqKey="Mengel E" first="Eugen" last="Mengel">Eugen Mengel</name><affiliation wicri:level="3"><nlm:affiliation>Villa Metabolica, Center for Pediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg-University, Mainz, Germany. Electronic address: Karl-Eugen.Mengel@unimedizin-mainz.de.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Villa Metabolica, Center for Pediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg-University, Mainz</wicri:regionArea><placeName><region type="land" nuts="2">Rhénanie-Palatinat</region><settlement type="city">Mayence</settlement></placeName></affiliation></author><author><name sortKey="Nakamura, Kimitoshi" sort="Nakamura, Kimitoshi" uniqKey="Nakamura K" first="Kimitoshi" last="Nakamura">Kimitoshi Nakamura</name><affiliation wicri:level="1"><nlm:affiliation>Kumamoto University Hospital, Kumamoto, Japan. Electronic address: nakamura@kumamoto-u.ac.jp.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Kumamoto University Hospital, Kumamoto</wicri:regionArea><wicri:noRegion>Kumamoto</wicri:noRegion></affiliation></author><author><name sortKey="Pastores, Gregory M" sort="Pastores, Gregory M" uniqKey="Pastores G" first="Gregory M" last="Pastores">Gregory M. Pastores</name><affiliation wicri:level="1"><nlm:affiliation>University College Dublin, and Mater Misericordiae University Hospital, Dublin, Ireland. Electronic address: gpastores@mater.ie.</nlm:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>University College Dublin, and Mater Misericordiae University Hospital, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Perez L Pez, Jordi" sort="Perez L Pez, Jordi" uniqKey="Perez L Pez J" first="Jordi" last="Pérez-L Pez">Jordi Pérez-L Pez</name><affiliation wicri:level="3"><nlm:affiliation>Unit of Rare Diseases, Hospital Vall d'Hebron, Barcelona, Spain. Electronic address: jordperez@vhebron.net.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Unit of Rare Diseases, Hospital Vall d'Hebron, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Schwartz, Ida" sort="Schwartz, Ida" uniqKey="Schwartz I" first="Ida" last="Schwartz">Ida Schwartz</name><affiliation wicri:level="4"><nlm:affiliation>Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil. Electronic address: idadschwartz@gmail.com.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul</wicri:regionArea><placeName><region type="state">Rio Grande do Sul</region><settlement type="city">Porto Alegre</settlement></placeName><orgName type="university">Université fédérale du Rio Grande do Sul</orgName></affiliation></author><author><name sortKey="Serratrice, Christine" sort="Serratrice, Christine" uniqKey="Serratrice C" first="Christine" last="Serratrice">Christine Serratrice</name><affiliation wicri:level="1"><nlm:affiliation>Foundation Hospital Saint Joseph, Marseille, France and Geneva University Hospital, Thonex, Switzerland. Electronic address: cserratrice@hopital-saint-joseph.fr.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Foundation Hospital Saint Joseph, Marseille, France and Geneva University Hospital, Thonex</wicri:regionArea><wicri:noRegion>Thonex</wicri:noRegion></affiliation></author><author><name sortKey="Szer, Jeffrey" sort="Szer, Jeffrey" uniqKey="Szer J" first="Jeffrey" last="Szer">Jeffrey Szer</name><affiliation wicri:level="1"><nlm:affiliation>Royal Melbourne Hospital, Parkville, Victoria, Australia. Electronic address: Jeff.Szer@mh.org.au.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Royal Melbourne Hospital, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Zimran, Ari" sort="Zimran, Ari" uniqKey="Zimran A" first="Ari" last="Zimran">Ari Zimran</name><affiliation wicri:level="1"><nlm:affiliation>Gaucher Clinic, Shaare Zedek Medical Center, affiliated with the Hebrew University-Hadassah Medical School, Jerusalem, Israel. Electronic address: azimran@gmail.com.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Gaucher Clinic, Shaare Zedek Medical Center, affiliated with the Hebrew University-Hadassah Medical School, Jerusalem</wicri:regionArea><wicri:noRegion>Jerusalem</wicri:noRegion></affiliation></author><author><name sortKey="Di Rocco, Maja" sort="Di Rocco, Maja" uniqKey="Di Rocco M" first="Maja" last="Di Rocco">Maja Di Rocco</name><affiliation wicri:level="1"><nlm:affiliation>Unit of Rare Diseases, Department of Pediatrics, Giannina Gaslini Institute, Genoa, Italy. Electronic address: Majadirocco@gaslini.org.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Unit of Rare Diseases, Department of Pediatrics, Giannina Gaslini Institute, Genoa</wicri:regionArea><wicri:noRegion>Genoa</wicri:noRegion></affiliation></author><author><name sortKey="Panahloo, Zoya" sort="Panahloo, Zoya" uniqKey="Panahloo Z" first="Zoya" last="Panahloo">Zoya Panahloo</name><affiliation wicri:level="1"><nlm:affiliation>Shire, Zug, Switzerland. Electronic address: zpanahloo@shire.com.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Shire, Zug</wicri:regionArea><wicri:noRegion>Zug</wicri:noRegion></affiliation></author><author><name sortKey="Kuter, David J" sort="Kuter, David J" uniqKey="Kuter D" first="David J" last="Kuter">David J. Kuter</name><affiliation wicri:level="2"><nlm:affiliation>Center for Hematology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: DKUTER@mgh.harvard.edu.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Hematology, Massachusetts General Hospital, Harvard Medical School, Boston, MA</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Hughes, Derralynn" sort="Hughes, Derralynn" uniqKey="Hughes D" first="Derralynn" last="Hughes">Derralynn Hughes</name><affiliation wicri:level="3"><nlm:affiliation>Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital, UCL Medical School, London, UK. Electronic address: rmgvdah@ucl.ac.uk.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital, UCL Medical School, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></analytic><series><title level="j">Molecular genetics and metabolism</title><idno type="eISSN">1096-7206</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Brésil</li><li>Espagne</li><li>France</li><li>Irlande (pays)</li><li>Israël</li><li>Italie</li><li>Japon</li><li>Royaume-Uni</li><li>Russie</li><li>Suisse</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Catalogne</li><li>District fédéral central</li><li>Grand Londres</li><li>Massachusetts</li><li>Rhénanie-Palatinat</li><li>Rio Grande do Sul</li><li>Virginie</li></region><settlement><li>Barcelone</li><li>Londres</li><li>Mayence</li><li>Moscou</li><li>Porto Alegre</li></settlement><orgName><li>Université fédérale du Rio Grande do Sul</li></orgName></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Mehta, Atul" sort="Mehta, Atul" uniqKey="Mehta A" first="Atul" last="Mehta">Atul Mehta</name></region><name sortKey="Deegan, Patrick" sort="Deegan, Patrick" uniqKey="Deegan P" first="Patrick" last="Deegan">Patrick Deegan</name><name sortKey="Hughes, Derralynn" sort="Hughes, Derralynn" uniqKey="Hughes D" first="Derralynn" last="Hughes">Derralynn Hughes</name></country><country name="France"><noRegion><name sortKey="Belmatoug, Nadia" sort="Belmatoug, Nadia" uniqKey="Belmatoug N" first="Nadia" last="Belmatoug">Nadia Belmatoug</name></noRegion></country><country name="Italie"><noRegion><name sortKey="Bembi, Bruno" sort="Bembi, Bruno" uniqKey="Bembi B" first="Bruno" last="Bembi">Bruno Bembi</name></noRegion><name sortKey="Di Rocco, Maja" sort="Di Rocco, Maja" uniqKey="Di Rocco M" first="Maja" last="Di Rocco">Maja Di Rocco</name></country><country name="Suisse"><noRegion><name sortKey="Elstein, Deborah" sort="Elstein, Deborah" uniqKey="Elstein D" first="Deborah" last="Elstein">Deborah Elstein</name></noRegion><name sortKey="Panahloo, Zoya" sort="Panahloo, Zoya" uniqKey="Panahloo Z" first="Zoya" last="Panahloo">Zoya Panahloo</name><name sortKey="Serratrice, Christine" sort="Serratrice, Christine" uniqKey="Serratrice C" first="Christine" last="Serratrice">Christine Serratrice</name></country><country name="États-Unis"><region name="Virginie"><name sortKey="Goker Alpan, Ozlem" sort="Goker Alpan, Ozlem" uniqKey="Goker Alpan O" first="Özlem" last="Göker-Alpan">Özlem Göker-Alpan</name></region><name sortKey="Kuter, David J" sort="Kuter, David J" uniqKey="Kuter D" first="David J" last="Kuter">David J. Kuter</name></country><country name="Russie"><region name="District fédéral central"><name sortKey="Lukina, Elena" sort="Lukina, Elena" uniqKey="Lukina E" first="Elena" last="Lukina">Elena Lukina</name></region></country><country name="Allemagne"><region name="Rhénanie-Palatinat"><name sortKey="Mengel, Eugen" sort="Mengel, Eugen" uniqKey="Mengel E" first="Eugen" last="Mengel">Eugen Mengel</name></region></country><country name="Japon"><noRegion><name sortKey="Nakamura, Kimitoshi" sort="Nakamura, Kimitoshi" uniqKey="Nakamura K" first="Kimitoshi" last="Nakamura">Kimitoshi Nakamura</name></noRegion></country><country name="Irlande (pays)"><noRegion><name sortKey="Pastores, Gregory M" sort="Pastores, Gregory M" uniqKey="Pastores G" first="Gregory M" last="Pastores">Gregory M. Pastores</name></noRegion></country><country name="Espagne"><region name="Catalogne"><name sortKey="Perez L Pez, Jordi" sort="Perez L Pez, Jordi" uniqKey="Perez L Pez J" first="Jordi" last="Pérez-L Pez">Jordi Pérez-L Pez</name></region></country><country name="Brésil"><region name="Rio Grande do Sul"><name sortKey="Schwartz, Ida" sort="Schwartz, Ida" uniqKey="Schwartz I" first="Ida" last="Schwartz">Ida Schwartz</name></region></country><country name="Australie"><noRegion><name sortKey="Szer, Jeffrey" sort="Szer, Jeffrey" uniqKey="Szer J" first="Jeffrey" last="Szer">Jeffrey Szer</name></noRegion></country><country name="Israël"><noRegion><name sortKey="Zimran, Ari" sort="Zimran, Ari" uniqKey="Zimran A" first="Ari" last="Zimran">Ari Zimran</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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