Most people with Gaucher disease (GD) would like to be informed by their health care provider at diagnosis of their risk of developing Parkinson’s disease, a survey among U.S. patients shows.
The study, “Knowledge and attitudes of Parkinson’s disease risk in the Gaucher population,” was published in the Journal of Genetic Counseling.
Mutations in the GBA1 gene cause GD and are one of the most common genetic risk factors for Parkinson’s. As such, Gaucher patients have a higher lifetime risk of developing Parkinson’s compared with the overall population.
Research showed that people younger than age 70 with GD type 1 (GD1) — the most common form of the disease — have a 5-7% probability of having parkinsonism. Parkinsonism is a general term for neurological disorders that cause movement problems similar to those of Parkinson’s. That probability increases to 9-12% up to age 80. In contrast, in the general population, the risk is 2-3% after age 65.
Yet, whether people with Gaucher disease would like to know about this increased risk, and are being told, remain unclear. Also to be determined is how and when these patients would prefer to be given this information.
To answer these questions, researchers in the U.S. developed an online survey, which was completed by 125 adults with GD1. Participants were either patients seen at the Icahn School of Medicine at Mount Sinai Lysosomal Storage Disease Program or were members of the National Gaucher Foundation.
The results indicated that most patients (87%) learned about their increased risk for developing Parkinson’s after their initial GD diagnosis.
Among the 100 participants who knew about this risk, 90% did not make any medical or lifestyle changes based on this knowledge.
Overall, the majority (83.7%) of those surveyed agreed that the optimal way of finding out about the higher risk of Parkinson’s was from their health care provider — whether that be a doctor, genetic counselor or nurse. Indeed, 71% of participants agreed that the greater likelihood of developing Parkinson’s should be disclosed at the GD diagnosis.
“These results suggest that health care providers should counsel Gaucher disease patients about the increased Parkinson’s disease risk, and they should do so at the time of diagnosis,” the researchers said.
Such education, they added, “should be more robust and should include details about the magnitude of the [Parkinson’s] risk and average age at onset.”
Most patients (76%) correctly answered that the higher risk for Parkinson’s is approximately 5–15%. Likewise, the majority (60.7%) correctly said that the onset of Parkinson’s manifestations is between 40-60 years of age.
Participants also were asked if treatment for GD would help reduce the risk of developing Parkinson’s. Only 32.5% said this is false, which is the correct answer.
As for other diseases associated with the development of GD, the majority of patients (95.8%) correctly answered osteoporosis, but only 38.3% of those surveyed knew that GD also is linked with multiple myeloma.
