Gaucher disease patients — especially those receiving enzyme replacement therapy — have a higher incidence of complications and other diseases than the general population, and so they should be carefully monitored by their physicians, regardless of their treatment status, an Israeli study shows.
The study, “Population-based cohort of 500 patients with Gaucher disease in Israel,” was published in the journal BMJ Open.
Currently, there is a lack of data from asymptomatic and untreated Gaucher disease (GD) patients, as most reports use registry-based data where patients have received some form of treatment. Therefore, population-based electronic health records are a useful tool to understand the clinical and demographic characteristics of Gaucher patients in real-world settings.
With that in mind, a group of researchers in Israel examined data from the Clalit Health Services organization in Israel (‘Clalit’) to compare the sociodemographic and clinical characteristics of Gaucher patients relative to the general population.
“Establishing a population-based cohort of patients with GD is essential to understanding disease progression and management,” the researchers said.
The Clalit database, with approximately 4,217,000 members (more than 50% of the Israeli population is over 21), includes demographic data, clinical diagnoses, laboratory results, medical treatments, and medications since 1998.
Five hundred Gaucher patients were included in the database as of June 2014. They were generally older, belonged to a higher socioeconomic status, and were more likely to be of Jewish ethnicity than the general population. Females were equally represented in both groups.
A little more than half of the Gaucher patients (51%) were overweight or obese, compared with 46.5% of the general population. These patients also had more comorbidities — one or more additional diseases — assessed through the Charlson Comorbidity Index.
There was a lower percentage of smokers, former or current, in the Gaucher group (27.7%) compared with the general population (33.7%) in the database.
Of the 500 patients with Gaucher, 41.2% received enzyme replacement therapy (ERT) — a common treatment for Gaucher that aims to deliver healthy copies of the glucocerebrosidase enzyme, which is faulty in these patients.
Patients on and off treatment were similar in their demographic and socioeconomic status, body weight, and smoking habits. However, more patients on ERT had comorbidities — 79.4% versus 52.3% — suggesting that those on pharmacological treatment had more advanced disease.
Gaucher patients on ERT had a higher incidence of anemia (76.7% vs. 64.6%), low platelet counts (73.8% vs. 53.7%), and liver enlargement (10.7% vs. 5.1%) than those not receiving treatment.
Accordingly, Gaucher patients — and particularly those on ERT — were more frequent users of healthcare facilities than those in the general population.
“Notably, patients with GD receiving ERT tended to have a history with higher rates of anaemia or (low platelet levels) compared with those not receiving ERT, although differences in sociodemographic or comorbid characteristics between GD ERT groups were not observed,” the researchers wrote.
“These findings highlight the need for physicians to monitor patients with GD regardless of their ERT status,” they said.