One motivation to getting my genome sequenced was to see whether I had known risk alleles for dementia (spoiler alert: I don’t). My dad was diagnosed with frontotemporal lobe dementia a few years before he died. His brain biopsy after death returned a diagnosis of Alzheimers. He might have had both.One of the known risk alleles is ApoE4. Homozygosity for ApoE4 is a strong predictor of Alzheimers by the eighth decade. I knew I wasn’t homozygous for ApoE4, because that condition is also associated with hyperlipidemia, and I’ve always had a normal lipid panel. But what would I have done if I had other risk alleles for AD or FTD? It was certainly something I was aware of, just like the risk of discovering that I might have a high risk for colon cancer or
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Joel Eissenberg considers the following as important: ApoE4 and Alzheimers, Dealing with adverse medical information, Healthcare
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One motivation to getting my genome sequenced was to see whether I had known risk alleles for dementia (spoiler alert: I don’t). My dad was diagnosed with frontotemporal lobe dementia a few years before he died. His brain biopsy after death returned a diagnosis of Alzheimers. He might have had both.
One of the known risk alleles is ApoE4. Homozygosity for ApoE4 is a strong predictor of Alzheimers by the eighth decade. I knew I wasn’t homozygous for ApoE4, because that condition is also associated with hyperlipidemia, and I’ve always had a normal lipid panel. But what would I have done if I had other risk alleles for AD or FTD? It was certainly something I was aware of, just like the risk of discovering that I might have a high risk for colon cancer or that my custodial father was not my biological father.
Yesterday, I read the attached link about a neurologist who learned that he’s homozygous for APOE4 and is experiencing the early stages of dementia.
“But Gibbs, who turns 73 years old in July, does have Alzheimer disease, and in hindsight believes that his first symptom occurred back in 2006, when he began to lose his sense of smell. At the time, he chalked it up to normal aging.
“Six years later, though, he took a DNA test to inform his wife’s genealogy research. The results would be life-changing. Besides learning where his ancestors had lived and whether his face is likely to flush after drinking alcohol, Gibbs discovered he had 2 copies of the apolipoprotein E (APOE) ε4 allele. As a practicing neurologist, he knew that homozygosity for APOE4 meant he had a greatly increased risk of developing Alzheimer disease.
“It has now been 8 years since Gibbs was diagnosed with the condition.”
He’s doing things to slow the disease progression. Of course, every individual is an experiment without a control, so we don’t know whether the measures are significant medically. But they certainly have given Dr. Gibbs a sense of mastery over his remaining life.