Scoring system to facilitate diagnosis of Gaucher disease.

ABSTRACT:

Background

Gaucher disease (GD) manifests heterogeneously and other conditions are often misdiagnosed in its place, leading to diagnostic delays. The Gaucher Earlier Diagnosis Consensus (GED-C) initiative proposed a point-scoring system (PSS) based on the signs and covariables that are most indicative of GD to help clinicians identify which individuals to test for GD.

Aims

To validate the PSS retrospectively in a test population including patients with GD and other conditions with overlapping manifestations.

Methods

Four cohorts of adults with GD, liver disease, haematological malignancy or immune thrombocytopenia were identified from hospital records. Clinical data were audited for GED-C factors identified as potentially indicative of GD and aggregate scores calculat

SUBMITTER: Mehta A 

PROVIDER: S-EPMC7839708 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature