Blood cancer warning signs common in adults with Gaucher: Study
Researchers recommend routine screening, monitoring for blood conditions
Written by |
Monoclonal gammopathies, benign blood conditions that can progress to certain blood cancers such as myeloma, are 10 times more common in people with Gaucher disease than in the general population, a study found.
Researchers screened more than 500 patients and found that more than 30% of adults with the condition had a monoclonal gammopathy regardless of treatment status. The frequency increased with age, affecting about 20% of adults younger than 40 and more than 50% of those older than 60.
These findings “support routine screening and longitudinal monitoring for monoclonal gammopathy” in adults with Gaucher disease, the scientists wrote.
The study, “Excess Risk of Monoclonal Gammopathy in Patients With Gaucher Disease,” was published as correspondence to the editor in the American Journal of Hematology.
Gaucher disease symptoms include blood abnormalities, enlarged organs, and bone problems. Previous research has suggested that the condition may be associated with an increased risk of certain blood cancers, particularly myeloma.
Myeloma, also called multiple myeloma, begins in plasma cells, a type of white blood cell that produces antibodies to help fight off infections and other threats. This type of blood cancer, is almost always preceded by monoclonal gammopathy of undetermined significance (MGUS), the most common form of monoclonal gammopathy.
Investigating link to precursor conditions
In MGUS, a small group of plasma cells produces abnormal antibodies that circulate in the blood. A subtype called light-chain MGUS (LC-MGUS) occurs when plasma cells produce only abnormal antibody fragments.
Although MGUS and LC-MGUS typically do not cause disease, both are associated with a higher risk of developing myeloma. Because of this, researchers have become increasingly interested in understanding how common these precursor conditions are in people with Gaucher. However, estimates so far have largely relied on retrospective data or small patient groups, the researchers noted.
The team of researchers in Israel and the U.S. analyzed clinical records and blood samples from 510 people with Gaucher disease followed at the Gaucher unit of Shaare Zedek Medical Center in Israel between January 2016 and June 2023. Blood samples were analyzed at the University of Miami.
Among the participants, 411 were adults, and 99 were children. The median age for adults was 46.5, and for children, 12.9. Overall, 68.1% of adults and 54.5% of children were receiving treatment for Gaucher disease, such as enzyme replacement therapy or substrate reduction therapy.
Monoclonal gammopathy was detected in 30.6% of adults and in 13.1% of children with Gaucher disease, regardless of treatment status. Among affected adults, 43 (34%) had MGUS, while 83 (66%) had LC-MGUS. One child also met the criteria for MGUS.
After adjusting for potential influencing factors, researchers found that age was the only factor significantly associated with MGUS, indicating that older patients were more likely to develop the condition.
Consistent with this finding, monoclonal gammopathy was less common in adults younger than 40, affecting 18.8% of patients, and more common in those older than 60, affecting 53.4% of patients. This age-related increase was largely driven by MGUS, as LC-MGUS occurred at relatively similar rates across age groups, the researchers noted.
“These findings demonstrate that myeloma precursor states are more than 10-fold more common in [Gaucher disease] than in the general population,” they wrote.
This observation has important clinical implications, they added, because people with Gaucher disease — particularly those diagnosed at younger ages — may live for many years with MGUS and therefore face a higher cumulative risk of developing myeloma.
“Further long-term studies are needed to better define progression rates to [multiple myeloma] and to characterize clinical outcomes, treatment responses, and toxicity profiles in this high-risk population,” the team concluded.
