ArticleJournal of inherited metabolic disease2011
Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy.
Article in Journal of inherited metabolic disease, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 76 citations in OpenAlex.
- Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.American journal of hematology · 2017Trial
- Defect in lysosomal enzyme trafficking and sorting is associated with irreversibility of pulmonary arterial hypertension.Frontiers in cardiovascular medicine · 2026Article
- Precision genomic profiling in Gaucher disease: insights from atypical presentations.Frontiers in genetics · 2025Article
- Eliglustat and cardiac comorbidities in Gaucher disease: a pharmacogenomic approach to safety and efficacy.Frontiers in medicine · 2025Article
- Lung Diseases and Rare Disorders: Is It a Lysosomal Storage Disease? Differential Diagnosis, Pathogenetic Mechanisms and Management.Children (Basel, Switzerland) · 2024Review
- Clinical and biochemical footprints of inherited metabolic diseases. XIII. Respiratory manifestations.Molecular genetics and metabolism · 2023Review
- Case report: Multidisciplinary collaboration in diagnosis and treatment of child gaucher disease.Frontiers in pediatrics · 2023Article
- Interstitial lung disease in lysosomal storage disorders.European respiratory review : an official journal of the European Respiratory Society · 2021Article
- Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study).Diagnostics (Basel, Switzerland) · 2021Article
- The future is here: Integrating genetics into the pediatric pulmonary clinic.Pediatric pulmonology · 2020Review
- Epidemiology, Pathogenesis, and Clinical Approach in Group 5 Pulmonary Hypertension.Frontiers in medicine · 2020Review
- Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy.Molecular genetics and metabolism reports · 2019Article
- Lessons from lung transplantation: Cause for redefining the pathophysiology of pulmonary hypertension in gaucher disease.Respiratory medicine case reports · 2019Article
- Exploring genetic modifiers of Gaucher disease: The next horizon.Human mutation · 2018Review
- Medical Management of Pulmonary Hypertension with Unclear and/or Multifactorial Mechanisms (Group 5): Is There a Role for Pulmonary Arterial Hypertension Medications?Current hypertension reports · 2017Review
- The role of genetics in pulmonary arterial hypertension.The Journal of pathology · 2017Review
- Imiglucerase in the management of Gaucher disease type 1: an evidence-based review of its place in therapy.Core evidence · 2016Review
- Post splenectomy related pulmonary hypertension.World journal of respirology · 2015Article
- Evaluation of disease burden and response to treatment in adults with type 1 Gaucher disease using a validated disease severity scoring system (DS3).Orphanet journal of rare diseases · 2015Article
- Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.Pediatric endocrinology reviews : PER · 2014Review
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Authors and funding
8 authors at 5 institutions in 1 country.
Funding
Abstract
Pulmonary arterial hypertension (PAH) and hepatopulmonary syndrome (HPS) are rare pulmonary vascular complications of type 1 Gaucher disease (GD1). We examined GBA1 genotype, spleen status, Severity Score Index (SSI), and other patient characteristics as determinants of GD/PAH-HPS phenotype. We also examined the long-term outcomes of imiglucerase enzyme replacement therapy (ERT) +/- adjuvant therapies in 14 consecutive patients. We hypothesized a role of BMPR2 and ALK1 as genetic modifiers underlying GD/PAH-HPS phenotype. Median age at diagnosis of GD1 was 5 yrs (2-22); PAH was diagnosed at median 36 yrs (22-63). There was a preponderance of females (ratio 5:2). ERT was commenced at median 36.5 yrs (16-53) and adjuvant therapy at 36 yrs (24-57). GBA1 genotype was N370S homozygous in two patients, N370S heteroallelic in 12. Median SSI was 15 (7-20). All patients had undergone splenectomy at median age 12 yrs (2-30). In three patients, HPS was the initial presentation, and PAH developed after its resolution; in these three, HPS responded dramatically to ERT. In seven patients, sequencing of the coding regions of BMPR2 and ALK1 was undertaken: 3/7 were heterozygous for BMPR2 polymorphisms; none harbored ALK1 variants. With ERT (± adjuvant therapy), 5/14 improved dramatically, five remained stable, two worsened, and two died prematurely. In this largest series of GD/PAH-HPS patients, there is preponderance of females and N370S heteroallelic GBA1 genotype. Splenectomy appears essential to development of this phenotype. In some patients, HPS precedes PAH. BMPR2 and ALK1 appear not be modifier genes for this rare phenotype of GD. ERT +/- adjuvant therapy improves prognosis of this devastating GD phenotype.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.