A Canadian study shows that it is feasible to screen high risk patients — those with an enlarged spleen, low platelet levels, or both — for Gaucher disease in general hematology clinics.
Gaucher disease is caused by a deficiency in the enzyme beta glucocerebrosidase, and due to lack of awareness and non-specific symptoms, obtaining a proper diagnosis quickly can be difficult, especially at non-expert clinics.
A previous observational study had been conducted in Italy. In that study, a simple test of beta glucocerebrosidase activity on a dried blood spot (DBS) was given to patients at hematology clinics who showed some symptoms of Gaucher. In this higher risk population, a prevalence of nearly 4 percent, much higher than the average, was identified.
Researchers now wondered whether this same technique could be used in general hematology clinics in Canada. From 2015 to 2016, they enrolled patients at a general clinic with at least one of two symptoms that often are characteristic of Gaucher: splenomegaly (an enlarged spleen) or thrombocytopenia (low platelet count).
Patients who were positive based on the initial DBS test were given further evaluation, including repeat DBS test and sequencing of the beta glucocerebrosidase gene, in order to receive a definitive diagnosis.
Over the course of a year, 221 patients were enrolled in the study. Of these, 11 were positive or borderline for Gaucher based on the initial test; however, subsequent testing showed that, although two patients were heterozygous carriers of a common Gaucher mutation, none of them had the condition.
Investigators believe that the reason fewer diagnoses were made in their study than in the previous Italian study might be due to differences in patient populations between the two places where the studies were conducted. They also note that their study included a much higher proportion of patients with only thrombocytopenia, which likely influenced the results.
Even though no diagnoses were made, the study demonstrates this diagnostic test can be feasibly integrated into general clinics, which could help to improve the accuracy and speed at which Gaucher disease is diagnosed.
“What this study has demonstrated is the feasibility of screening high‐risk patients for GD [Gaucher disease].” Larger trials in North America are being planned to further explore the utility of this diagnostic test for GD,” the researchers concluded.