I recently spoke with a carrier of the Alzheimer's gene who went to her primary care doctor to learn how to address her elevated risk for one day developing the disease. The result? She left the officewith a (totally inappropriate) prescription for dementia symptoms.
Members of the Being Patient community are increasingly curious to learn their genetic status as it relates to Alzheimer’s risk. A story I was told recently made me acutely aware of the lack of knowledge among primary care doctors of treatment for asymptomatic genetic carriers. There’s a real need to educate the medical community as more patients undergo genetic testing.
I wanted to share a recent encounter I had with a person who just found out her genetic status for Alzheimer’s, through a 23andme test. “Mary” (the name I will use to refer to her to protect her privacy) told me that she found out she was homozygous ApoE4, which means she inherited a copy of the ApoE4 gene variant from each of her parents, putting her in a higher risk category for Alzheimer’s disease. Mary didn’t know she had a genetic link to Alzheimer’s before the test, because she’s not aware of any close family members having had dementia.
Mary is part of a growing population of people who are finding out that they have a relationship to Alzheimer’s that they never knew they had before. After taking months to digest the news, she decided to be proactive and see a doctor. She also applied to participate in clinical trials, but she wasn’t accepted; she didn’t have Alzheimer’s biomarker beta-amyloid plaque in her brain. However, at the time, she also took a home blood test (available then, but later taken off the market) and learned she did have a higher ratio of such biomarkers in her blood.
The reason why I am sharing this story is because what happened next astounded me. Mary went to her primary care doctor to ask if there was anything she could do now that she discovered an elevated risk, and her doctor prescribed Aricept.
As some of you know, Aricept is a prescription cholinesterase inhibitor prescribed for Alzheimer’s disease symptoms!!! Mary’s story puts into focus the urgent need to educate doctors about pre-symptomatic cases of Alzheimer’s disease. A healthy diet and exercise would do far more than a prescription of Aricept for someone who may have elevated risk but is otherwise healthy.
Experts like Dr. Marwan Sabbagh, author and board-certified behavioral neurologist at Barrow Neurological Institute’s Alzheimer’s and Memory Disorder Program, are interested in studying lifestyle interventions specifically for people who have genetic risk.
“There is a huge interest in seeing if we can mitigate genetic risk through lifestyle interventions,” Sabbagh said. “[It is] actually a big area of research because a lot of people think that we should be trying to prevent our Alzheimer’s symptoms, not treat it once you have it, but try to prevent it to begin with.”
“I think that the answer is that you could move the needle,” Sabbagh responded when asked how effective lifestyle interventions could be for genetic carriers. “We don’t know how much, but I think you can move the needle with lifestyle-directed interventions.”
Mary is a great example of someone who has done a ton of research into genetic risk of Alzheimer’s. I am glad to report she knew enough to put the prescription of Aricept away in her cupboard. She will make science-backed lifestyle interventions for now. Knowledge is power.
