The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease

Koppe, Tiago; Doneda, Divair; Siebert, Marina; Paskulin, Livia; Camargo, Matheus Brunstein; Tirelli, Kristiane Michelin; Vairo, Filippo Pinto e; Daudt, Liane Esteves; Schwartz, Ida Vanessa Döederlein

doi:10.1590/1678-4685-gmb-2015-0125

Cited by 13 publications

(10 citation statements)

References 39 publications

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“…Other GD-associated complications include 62 (73.8%) Erlenmeyer flask deformity and 12 (14.1%) MGUS. In addition, 4 (4.7%) patients developed Parkinson disease, with a median age of 65.5 [51][52][53][54][55][56][57][58][59][60][61][62][63][64][65][66][67][68] at diagnosis (Table 5). A total of 12 (14.1%) patients were diagnosed with malignancies: 3 breast cancers, 3 colon cancers, 1 smoldering myeloma, 1 Hodgkin lymphoma, 1 non-Hodgkin lymphoma, 1 essential thrombocythemia, 1 prostate cancer, and 1 renal cancer.…”

Section: Treatment Duration (Years)mentioning

confidence: 99%

Gaucher Disease in Ontario, Canada: Clinical Manifestations, Natural Progression, and Treatment Response

Amato¹

2018

J Rare Dis Res Treat

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Gaucher disease (GD) is characterized by a deficiency in lysosomal glucocerebrosidase, resulting in a multisystemic disease with substantial variability in clinical manifestations, disease progression, and treatment response. This is the first study in Canada that examines the epidemiological profile of Gaucher patients, mapping out the GD clinical spectrum in the ethnically diverse province of Ontario.Study found a prevalence of 1:155,367 (1:9,853 for Ashkenazi-Jews) type 1 GD adults in Ontario. Splenectomy was associated with improved thrombocytopenia, worsened hyperferritinemia and bone pain, but no effects on anemia, bone mineral density or bone crises. Compared to the non-treatment group, a higher proportion of patients who received enzyme replacement/ substrate reduction therapy (ERT/SRT) presented with anemia, hepatomegaly, bone pain, and bone crises at baseline, suggesting that these presentations may be predictive of subsequent need for treatment. ERT/SRT were effective in improving all hematological, visceral, and skeletal manifestations (except bone mineral density), whereas the non-treatment group remained clinically stable over time (10.88 years) without significant disease progression -thus early use of ERT/SRT may not be necessary in all patients. This comprehensive analysis summarizes the genotypic and phenotypic heterogeneity of GD, serving as a comparative resource for optimization of care for adult patients.

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Section: Treatment Duration (Years)mentioning

confidence: 99%

Gaucher Disease in Ontario, Canada: Clinical Manifestations, Natural Progression, and Treatment Response

Amato¹

2018

J Rare Dis Res Treat

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“…This phenomenon partly explains why there are such poor correlations between the GBA genotype and residual GBA activity as a diagnostic and prognostic tool [ 6 ]. Historical plasma biomarkers for disease monitoring and evaluation of treatment (i.e., tartrate-resistant acid phosphatase, angiotensin-converting enzyme, ferritin, and alkaline phosphatase) are not specific to GD, are only elevated moderately in patients with GD relative to controls and are influenced by other factors [ 18 , 19 , 20 , 21 , 22 , 23 ].…”

Section: Introductionmentioning

confidence: 99%

Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review

Revel‐Vilk

Fuller

Zimran

2020

IJMS

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The challenges in the diagnosis, prognosis, and monitoring of Gaucher disease (GD), an autosomal recessive inborn error of glycosphingolipid metabolism, can negatively impact clinical outcomes. This systematic literature review evaluated the value of glucosylsphingosine (lyso-Gb1), as the most reliable biomarker currently available for the diagnosis, prognosis, and disease/treatment monitoring of patients with GD. Literature searches were conducted using MEDLINE, Embase, PubMed, ScienceOpen, Science.gov, Biological Abstracts, and Sci-Hub to identify original research articles relevant to lyso-Gb1 and GD published before March 2019. Seventy-four articles met the inclusion criteria, encompassing 56 related to pathology and 21 related to clinical biomarkers. Evidence for lyso-Gb1 as a pathogenic mediator of GD was unequivocal, although its precise role requires further elucidation. Lyso-Gb1 was deemed a statistically reliable diagnostic and pharmacodynamic biomarker in GD. Evidence supports lyso-Gb1 as a disease-monitoring biomarker for GD, and some evidence supports lyso-Gb1 as a prognostic biomarker, but further study is required. Lyso-Gb1 meets the criteria for a biomarker as it is easily accessible and reliably quantifiable in plasma and dried blood spots, enables the elucidation of GD molecular pathogenesis, is diagnostically valuable, and reflects therapeutic responses. Evidentiary standards appropriate for verifying inter-laboratory lyso-Gb1 concentrations in plasma and in other anatomical sites are needed.

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“…A few metabolic hallmarks have been identified in GD, including increased chitotriosidase (EC 3.2.1.14), angiotensin-converting enzyme (EC 3.4.15.1), C-C Motif Chemokine Ligand 18 (CCL18) (P55774), tartrateresistant acid phosphatase (EC 3.1.3.2), and serum ferritin (P02792 and P02794), and some of these continue to be utilized as diagnostic and prognostic tools in clinical practice. 21 An interesting aspect of GD is the presumptive abnormality in vitamin B 12 status. [22][23][24][25][26] The earliest observations linking GD with vitamin B 12 metabolism were documented about 4 decades ago by Gilbert and Weinreb 26 and by Rachimilewitz and Rachimilewitz.…”

Section: Gaucher Diseasementioning

confidence: 99%

Hampered Vitamin B12 Metabolism in Gaucher Disease?

Hannibal

Siebert

Basgalupp

et al. 2017

Journal of Inborn Errors of Metabolism and Screening

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Untreated vitamin B 12 deficiency manifests clinically with hematological abnormalities and combined degeneration of the spinal cord and polyneuropathy and biochemically with elevated homocysteine (Hcy) and methylmalonic acid (MMA). Vitamin B 12 metabolism involves various cellular compartments including the lysosome, and a disruption in the lysosomal and endocytic pathways induces functional deficiency of this micronutrient. Gaucher disease (GD) is characterized by dysfunctional lysosomal metabolism brought about by mutations in the enzyme beta-glucocerebrosidase (Online Mendelian Inheritance in Man (OMIM): 606463; Enzyme Commission (EC) 3.2.1.45, gene: GBA1). In this study, we collected and examined available literature on the associations between GD, the second most prevalent lysosomal storage disorder in humans, and hampered vitamin B 12 metabolism. Results from independent cohorts of patients show elevated circulating holotranscobalamin without changes in vitamin B 12 levels in serum. Gaucher disease patients under enzyme replacement therapy present normal levels of Hcy and MMA. Although within the normal range, a significant increase in Hcy and MMA with normal serum vitamin B 12 was documented in treated GD patients with polyneuropathy versus treated GD patients without polyneuropathy. Thus, a functional deficiency of vitamin B 12 caused by disrupted lysosomal metabolism in GD is a plausible mechanism, contributing to the neurological form of the disorder but this awaits confirmation. Observational studies suggest that an assessment of vitamin B 12 status prior to the initiation of enzyme replacement therapy may shed light on the role of vitamin B 12 in the pathogenesis and progression of GD.

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The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease

Cited by 13 publications

References 39 publications

Gaucher Disease in Ontario, Canada: Clinical Manifestations, Natural Progression, and Treatment Response

Gaucher Disease in Ontario, Canada: Clinical Manifestations, Natural Progression, and Treatment Response

Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review

Hampered Vitamin B12 Metabolism in Gaucher Disease?

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