Navigating a diagnosis with a rare form of Alzheimer’s

Facing a diagnosis of Alzheimer’s disease at a young age can be shocking and frightening for patients and their families. When James*, an active 50-year-old executive with a demanding career, began to have trouble remembering basic facts such as his co-workers’ names and simple addresses, he consulted a neurologist. At first, the doctor thought that his recent memory lapses could be due to some issues he was having with anxiety, but initial results of a PET-CT scan suggested the possibility that he could be showing signs of Alzheimer’s disease.

James sought assistance from Private Health Management (PHM) based on a recommendation from a family member who was a PHM client. His PHM Personal Care Team of clinicians and researchers coordinated further evaluation by a neuropsychiatrist and a neuro-ophthalmologist who confirmed that he was having multiple cognitive challenges and identified a problem with his ability to process visual information.

This difficulty in processing visual information was a signal to both his local neurologist and his PHM Care Team that he may have a rare subtype of Alzheimer’s disease called Posterior Cortical Atrophy (PCA). PCA represents just 5% of Alzheimer’s cases and is unique because it affects areas in the back of the brain, which are involved in visual processing, spelling, and calculations. It tends to affect younger people than typical Alzheimer’s disease, with symptom onset often beginning around 50 or 60 years of age. As PCA progresses, day-to-day memory, word finding, and general cognitive functions may become affected, and people develop the more typical symptoms of Alzheimer’s disease. Because there is no definitive test for PCA, it is often diagnosed by ruling out other causes of cognitive decline and by the identification of visual processing issues.

Read more about PCA from PHM’s experts here.

To confirm a diagnosis of PCA, the PHM team arranged for James to get a second opinion from one of the top Alzheimer’s experts in the U.S., Dr. Bruce Miller from University of California at San Francisco, who was recently awarded a lifetime achievement award from the Alzheimer’s Association^®. Dr. Miller met with James, reviewed his case history, and recommended additional testing to rule out an autoimmune condition in addition to specialized imaging (FDG Amyloid and Tau PET CT scans), to characterize the presence of two proteins involved in Alzheimer’s disease (amyloid-β and tau). Based on a comprehensive evaluation of James’s clinical history and test results, Dr. Miller confirmed the diagnosis of PCA.

The news was difficult for James but having a confirmed diagnosis from one of the world’s most prominent experts helped him to find comfort in knowing a definitive cause for his symptoms and an understanding of what to expect in terms of his future care. James’s PHM Care Team provided him and his wife with compassionate support and education about the disease, along with valuable guidance on how to discuss the diagnosis with his children. The team advocated for additional support to help James cope with his symptoms and connected him with providers, including speech and language services and an occupational therapist who specializes in helping patients with vision issues.

Treatment plans for PCA and other forms of Alzheimer’s generally have the goal of stabilizing the person’s symptoms and slowing disease progression. Dr. Miller recommended treatment with donepezil (Aricept®), a commonly used medication for Alzheimer’s that helps to improve attention, memory, and the ability to engage in daily activities, but is not a cure.

In addition, James’s local neurologist recommended that he start treatment with lecanemab (Leqembi^®), a monoclonal antibody treatment that had recently been FDA-approved for Alzheimer’s disease. The drug works by targeting the amyloid-β protein, which is known to build up and form plaques in the brains of patients with Alzheimer’s disease. One unfortunate but common complication associated with lecanemab is the occurrence of side effects called amyloid-related imaging abnormalities (ARIA), which include microbleeds in the brain and brain swelling. Studies have shown that patients who have two copies of a certain variant of a gene called ApoE are at highest risk for serious ARIA events. PHM helped coordinate James’s genetic testing and analyzed the results, which indicated that he does not have this genetic variant and was therefore at lower risk for ARIA and thus a candidate for lecanemab treatment. PHM also provided James with education on lecanemab, the likelihood of ARIA, reviewed any serious symptoms that he should be aware of, and ensured that he understood the risks involved with these common side effects prior to treatment.

James began treatment with lecanemab, along with his existing donepezil therapy and was closely monitored by his healthcare provider and PHM team for any signs of ARIA. After about 5 months on lecanemab, a routine MRI revealed signs of mild ARIA, so treatment was temporarily discontinued. While this was disappointing, James was glad to have had knowledge of this possibility before starting treatment. After a break from treatment, he was stable enough to restart a lower dose of lecanemab and his team is closely monitoring him for any further side effects. He has also had some relief from his anxiety, which has been helpful during this stressful time. James’s PHM care team maintains regular communication with him, frequently monitors his condition, and continues to evaluate the latest developments in Alzheimer’s disease, including potential clinical trials.

*Name changed to protect privacy.