Obstacles to Early Diagnosis of Gaucher Disease
Samantha Nishimura,* Charis Ma,* Ellen Sidransky, Emory Ryan National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA*These authors contributed equally to this workCorrespondence: Ellen Sidransky, National Human Genome Research Institute, Nat...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Dove Medical Press
2025-01-01
|
| Series: | Therapeutics and Clinical Risk Management |
| Subjects: | |
| Online Access: | https://www.dovepress.com/obstacles-to-early-diagnosis-of-gaucher-disease-peer-reviewed-fulltext-article-TCRM |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832584065718419456 |
|---|---|
| author | Nishimura S Ma C Sidransky E Ryan E |
| author_facet | Nishimura S Ma C Sidransky E Ryan E |
| author_sort | Nishimura S |
| collection | DOAJ |
| description | Samantha Nishimura,* Charis Ma,* Ellen Sidransky, Emory Ryan National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA*These authors contributed equally to this workCorrespondence: Ellen Sidransky, National Human Genome Research Institute, National Institutes of Health, Building 35A -1E623 Convent Drive, MSC 3708, Bethesda, MD, 20892-3708, USA, Tel +1-301-451-0901, Fax +301-402-6438, Email sidranse@nih.govAbstract: Gaucher disease (GD) is a rare lysosomal storage disorder resulting from a deficiency of the lysosomal enzyme glucocerebrosidase caused by biallelic variants in the GBA1 gene. Patients may present with a wide spectrum of disease manifestations, including hepatosplenomegaly, thrombocytopenia, bone manifestations, and in the case of GD types 2 and 3, neurodegeneration, cognitive delay, and/or oculomotor abnormalities. While there is no treatment for neuronopathic GD, non-neuronopathic manifestations can be efficiently managed with enzyme replacement therapy or substrate reduction therapy. However, many patients with GD experience a lengthy diagnostic odyssey, which can negatively affect their access to care and clinical outcomes. The cause of this diagnostic delay is multifaceted. Since genotype/phenotype correlations in GD are not always clear, it is difficult to predict the presence, severity, and onset of clinical manifestations. This heterogeneity, combined with the molecular complexity of the GBA1 locus, low disease prevalence, and limited knowledge of GD among providers serves as a barrier to early diagnosis of GD. In this review, we discuss such obstacles and challenges, considerations, and future steps toward improving the diagnostic journey for patients with GD.Keywords: Gaucher disease, newborn screening, diagnosis |
| format | Article |
| id | doaj-art-54d53cb1ea3445cf9c2fb3bf3c4ee289 |
| institution | Kabale University |
| issn | 1178-203X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | Therapeutics and Clinical Risk Management |
| spelling | doaj-art-54d53cb1ea3445cf9c2fb3bf3c4ee2892025-01-27T18:05:34ZengDove Medical PressTherapeutics and Clinical Risk Management1178-203X2025-01-01Volume 219310199597Obstacles to Early Diagnosis of Gaucher DiseaseNishimura SMa CSidransky ERyan ESamantha Nishimura,* Charis Ma,* Ellen Sidransky, Emory Ryan National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA*These authors contributed equally to this workCorrespondence: Ellen Sidransky, National Human Genome Research Institute, National Institutes of Health, Building 35A -1E623 Convent Drive, MSC 3708, Bethesda, MD, 20892-3708, USA, Tel +1-301-451-0901, Fax +301-402-6438, Email sidranse@nih.govAbstract: Gaucher disease (GD) is a rare lysosomal storage disorder resulting from a deficiency of the lysosomal enzyme glucocerebrosidase caused by biallelic variants in the GBA1 gene. Patients may present with a wide spectrum of disease manifestations, including hepatosplenomegaly, thrombocytopenia, bone manifestations, and in the case of GD types 2 and 3, neurodegeneration, cognitive delay, and/or oculomotor abnormalities. While there is no treatment for neuronopathic GD, non-neuronopathic manifestations can be efficiently managed with enzyme replacement therapy or substrate reduction therapy. However, many patients with GD experience a lengthy diagnostic odyssey, which can negatively affect their access to care and clinical outcomes. The cause of this diagnostic delay is multifaceted. Since genotype/phenotype correlations in GD are not always clear, it is difficult to predict the presence, severity, and onset of clinical manifestations. This heterogeneity, combined with the molecular complexity of the GBA1 locus, low disease prevalence, and limited knowledge of GD among providers serves as a barrier to early diagnosis of GD. In this review, we discuss such obstacles and challenges, considerations, and future steps toward improving the diagnostic journey for patients with GD.Keywords: Gaucher disease, newborn screening, diagnosishttps://www.dovepress.com/obstacles-to-early-diagnosis-of-gaucher-disease-peer-reviewed-fulltext-article-TCRMgaucher diseasenewborn screeningdiagnosis |
| spellingShingle | Nishimura S Ma C Sidransky E Ryan E Obstacles to Early Diagnosis of Gaucher Disease Therapeutics and Clinical Risk Management gaucher disease newborn screening diagnosis |
| title | Obstacles to Early Diagnosis of Gaucher Disease |
| title_full | Obstacles to Early Diagnosis of Gaucher Disease |
| title_fullStr | Obstacles to Early Diagnosis of Gaucher Disease |
| title_full_unstemmed | Obstacles to Early Diagnosis of Gaucher Disease |
| title_short | Obstacles to Early Diagnosis of Gaucher Disease |
| title_sort | obstacles to early diagnosis of gaucher disease |
| topic | gaucher disease newborn screening diagnosis |
| url | https://www.dovepress.com/obstacles-to-early-diagnosis-of-gaucher-disease-peer-reviewed-fulltext-article-TCRM |
| work_keys_str_mv | AT nishimuras obstaclestoearlydiagnosisofgaucherdisease AT mac obstaclestoearlydiagnosisofgaucherdisease AT sidranskye obstaclestoearlydiagnosisofgaucherdisease AT ryane obstaclestoearlydiagnosisofgaucherdisease |