Clinical Guidance

Gaucher disease (GD) encompasses a spectrum of clinical findings from a perinatal-lethal form to an asymptomatic form. However, for the purposes of determining prognosis and management, the classification of GD by clinical type is still useful in describing the wide range of clinical findings and broad variability in presentation. Three major clinical types are delineated by the absence (type 1) or presence (types 2 and 3) of primary central nervous system (CNS) involvement .

Diagnostic Criteria

Suggestive Findings Scenario 1: Abnormal Newborn Screening (NBS) Result NBS for Gaucher disease (GD) is primarily based on quantification of glucocerebrosidase enzyme activity on dried blood spots. Glucocerebrosidase enzyme activity values below the cutoff reported by the screening laboratory are considered positive, and additional testing is required to establish the diagnosis . Scenario 2: Symptomatic Individual GD encompasses a continuum of clinical findings from a perinatal-lethal disorder to type 1 GD with adult onset. GD should be suspected in individuals (by age) with the following combination of central nervous system, bony, hematologic, and other clinical and family history findings . Table 1. Gaucher Disease: Clinical Phenotypes

Management Guidelines

Clinical management guidelines for Gaucher disease (GD) have been published . Management by a multidisciplinary team with expertise in treating GD is available at Comprehensive Treatment Centers (see National Gaucher Foundation).

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with GD, the evaluations summarized in or (if not performed as part of the evaluation that led to the diagnosis) are recommended. Recommended evaluations following initial diagnosis can vary based on age at diagnosis, mode of ascertainment (e.g., asymptomatic vs symptomatic individual), and presence or absence of primary neurologic involvement. Baseline (pre-treatment) assessments may be useful in selecting treatment modality and regimen (e.g., enzyme dose, frequency of infusion).

Surveillance Guidelines

Physicians who are the US regional coordinators for the International Collaborative Gaucher Group Registry (ICGG) and other groups have published recommendations for comprehensive serial monitoring of the severity and rate of disease progression [, , , ]. A European working group has also published a consensus document relating to management goals for individuals with type 1 GD . To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended.