Novel Management and Screening Approaches for Haematological Complications of Gaucher’s Disease

Abstract

Purpose Gaucher disease (GD) is the most common lysosomal storage disorder. The principal manifestations for its diagnosis and further monitoring include haematological manifestations such as anaemia, thrombocytopaenia, spleen enlargement, and bleeding disorders, among others. This review aims to summarise and update the role of haematological complications in GD diagnosis and follow-up, describe their management strategies, and to use these indicators as part of the diagnostic approach. Materials and Methods A systematic review following the recommendations of PRISMA-P 2020 was carried out. Publications indexed in the databases PubMed, Embase, Science Open, Mendeley, and Web of Science were electronically searched by three independent reviewers, and publications up to June 2021 were accessed. A total of 246 publications were initially listed, of which 129 were included for further review and analysis. Case reports were considered if they were representative of a relevant hematologic complication. Results From the first review dated in 1974 to the latest publication in 2021, including different populations confirmed that the haematological manifestations such as thrombocytopaenia and splenomegaly at diagnosis of GD type 1 are the most frequent features of the disease. The incorporation of haematological parameters to diagnosis strategies increases their cost-effectiveness. Hematologic parameters are part of the scoring system for disease assessment and the evaluation of therapeutic outcomes, providing reliable and accessible data to improve the management of GD. However, cytopaenia, underlying coagulation disorders, and platelet dysfunction need to be addressed, especially during pregnancy or surgery. Long-term haematological complications include the risk of neoplasia and immune impairment, an area of unmet need that is currently under research. Conclusion Haematological features are key for GD suspicion, diagnosis, and management. Normalization of hematological parameters is achieved with the treatment; however, there are unmet needs such as the underlying inflammatory status and the long-term risk of hematologic neoplasia.

Blood metabolic and physiological profiles of Bama miniature pigs at different growth stages

“…The platelet is formed from megakaryocytes and regulates hemostasis and thrombosis [ 29 ]. A low platelet number means acute leukemia [ 30 ] and Gaucher's disease [ 31 ], usually. Here, however, the platelet indices of healthy Bama miniature pigs could not be related with disease, which might explain why they did not change over time.…”

A case of gaucher disease with a rare complication of gaucheroma and protein-losing enteropathy

“…Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disease, with a global incidence of about 1/40,000 to 1/100,000 [ 1 ]. Its pathogenesis revolves around mutations within the glucocerebrosidase ( GBA1 ) gene.…”

Multiplex Quantification of Plasma Biomarkers for Patients with Gaucher Disease Type 1

“…Over 300 different mutations have been described for the GBA gene (D'Amore et al, 2021) and result in phenotypes ranging from asymptomatic to in-utero death (Arévalo et al, 2022;Weinreb et al, 2021. Although GD phenotypes span a wide continuum, three types can be distinguished (Schiffmann et al, 2020;Silva García et al, 2021). Type 1 GD (OMIM 230800) accounts for approximately 90% to 95% of all GD cases, with an estimated disease prevalence of 1 in 52,000 individuals in the general population (Biegstraaten et al, 2018;Chis, Chis, and Dumitrascu, 2021;Giraldo, 2021). This number can, in certain communities, be significantly increased.…”