Gaucher Patients Want to Be Informed at Diagnosis of Parkinson’s Risk, Study Reports – Gaucher Disease News

Most people with Gaucher disease (GD) would like to be informed by their health care provider at diagnosis of their risk of developing Parkinsons disease, a survey among U.S. patients shows.

The study, Knowledge and attitudes of Parkinsons 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 Parkinsons. As such, Gaucher patients have a higher lifetime risk of developing Parkinsons 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 Parkinsons. 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 Parkinsons 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 Parkinsons 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 Parkinsons should be disclosed at the GD diagnosis.

These results suggest that health care providers should counsel Gaucher disease patients about the increased Parkinsons 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 [Parkinsons] risk and average age at onset.

Most patients (76%) correctly answered that the higher risk for Parkinsons is approximately 515%. Likewise, the majority (60.7%) correctly said that the onset of Parkinsons manifestations is between 40-60 years of age.

Participants also were asked if treatment for GD would help reduce the risk of developing Parkinsons. 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.

Iqra holds a MSc in Cellular and Molecular Medicine from the University of Ottawa in Ottawa, Canada. She also holds a BSc in Life Sciences from Queens University in Kingston, Canada. Currently, she is completing a PhD in Laboratory Medicine and Pathobiology from the University of Toronto in Toronto, Canada. Her research has ranged from across various disease areas including Alzheimers disease, myelodysplastic syndrome, bleeding disorders and rare pediatric brain tumors.

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Jos is a science news writer with a PhD in Neuroscience from Universidade of Porto, in Portugal. He has also studied Biochemistry at Universidade do Porto and was a postdoctoral associate at Weill Cornell Medicine, in New York, and at The University of Western Ontario in London, Ontario, Canada. His work has ranged from the association of central cardiovascular and pain control to the neurobiological basis of hypertension, and the molecular pathways driving Alzheimers disease.

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Gaucher Patients Want to Be Informed at Diagnosis of Parkinson's Risk, Study Reports - Gaucher Disease News