By Frank Amato, President and CEO, SYNAPS Dx
Alzheimer's disease (AD) misdiagnoses can be highly damaging, both emotionally and financially, to patients and their families.
Nevertheless, about 1 in 5 AD cases may be incorrect. One patient who was misdiagnosed with AD stated that the subsequent treatment nearly destroyed his life. Similarly, patients can experience false-negative diagnoses, preventing them from receiving the most appropriate treatment. Until recently, AD diagnostic approaches have been inaccurate, especially in those recently diagnosed with dementia and in those who present with mixed dementia, or dementia caused by other conditions impacting memory and cognition.
But now a promising breakthrough test is available that is autopsy-confirmed and minimally invasive to support a clinician’s definitive diagnosis of AD in people living with dementia. For example, DISCERN™ assesses the factors directly related to the formation of synaptic connections in the brain that correlate with loss of memory and cognition in people living with AD, as well as regulators of amyloid plaque and tau formation—hallmarks of AD at autopsy.
Until the arrival of this new test, only autopsies have conclusively validated an AD diagnosis even in patients living with mixed dementia. Other tests don’t adequately measure dementia-related brain changes in living people. Having an accurate diagnosis of AD in people living with mixed dementia can improve care plans and therapeutic interventions. What’s more, an early diagnosis enables patients living with dementia to begin clinical interventions sooner, providing a cost savings for payers, as well as saving time, money and the anguish of not knowing for those involved.
Potential Misdiagnosis
Most people with AD are 65 and older, with symptoms worsening over time. In the early stages of AD, memory loss is mild but eventually individuals lose the ability to respond to their environment. Typically, AD patients live four to eight years after diagnosis but can live as long as 20 years, depending on other factors.
Experts predict that the number of Americans living with AD could rise from 6 million to 13 million by 2050. Given the complexity of this disease, getting an accurate diagnosis is critical for ensuring that people get the right treatment as soon as possible.
Here are a few treatable conditions that can be mistaken for AD:
Other neurocognitive disorders
While AD accounts for most neurocognitive disorder cases, other types of dementia and medical conditions can similarly affect mental functions, such as vascular dementia and Parkinson’s disease. For example, if a senior has a small stroke or a benign brain growth, they might show signs of cognitive impairment. Namely, one patient turned out to have a benign tumor. After surgery, he lived another 10 years.
MCI
Although someone with MCI might experience problems with memory, the changes don’t typically disrupt daily life or inhibit independence. But over time MCI can, but does not always, progress to dementia and AD. Studies have shown that less than half of people diagnosed with MCI progress to dementia over ten years, and fewer progress to AD.
Mood disorders
Major depression or bipolar disorder can make it difficult to focus, think clearly or make decisions. Depending on someone’s emotional and mental state, memory loss can worsen. When properly treated, these symptoms can improve.
Delirium
This can be caused by chronic illness, certain medications, infection or surgery, with symptoms including confusion, disorientation and memory impairment. Typically, it comes on quickly and can be reversed with proper treatment, such as stopping a particular medication or treating an infection.
Alcohol and other substances
Drinking too much alcohol over a long period of time can lead to memory loss. Heavy drinking destroys brain cells and worsens memory problems. Also, prescription and over-the-counter medications can interfere with cognition and mimic dementia.
Other common causes of memory loss include urinary tract infections, thyroid disease, diabetes, vitamin B12 deficiency, normal pressure hydrocephalus and vision and hearing problems.
Essential Diagnostic Test
The new AD test assesses factors directly related to the formation of synaptic connections in the brain, impacting loss of memory and cognition in people living with AD. Synaptic connections allow the brain’s nerve cells to communicate with each other and their activity is directly related to cognition and memory. The test also identifies the AD-specific degeneration for a definitive diagnosis even in the presence of mixed dementia.
This new AD test serves as a tool to manage appropriate patient access to future approved therapies, in addition to the clinical and economic benefits of improved, early diagnosis.
Key features to look for in an AD test include:
- Highly accurate diagnosis of AD through a minimally invasive procedure in the clinician’s office
- Accurately assess several critical factors directly related to memory, thinking and behavior in people with AD dementia, the presence of functional synaptic connections among neurons, the level of amyloid plaques and the level of neurofibrillary tangles in the brain
- Accuracy identifying AD earlier in people diagnosed with dementia. Developed by testing and following patients with dementia over several years prior to death, establishing plaque and tau at autopsy, which is validated against the NIH gold standard
- Awarded reimbursement codes and a payment amount set by the Centers for Medicare & Medicaid.
The test should also support diagnostic certainty, demonstrating greater than 95% sensitivity and specificity in the diagnosis and management of AD, even in people recently diagnosed with dementia, and combine three biomarkers: Morphometric Imaging to measure fibroblasts’ ability to form networks; Protein Kinase C ε that correlates with synaptic activity; and AD-Index to measure phosphorylation of Erk1 and Erk2 in response to bradykinin.
Every stakeholder can benefit from the ability to obtain an AD diagnosis. It helps to provide a more focused patient journey, enables pharmaceutical companies to identify appropriate clinical trial participants and allows accredited sources of reimbursement to establish protocols and prior authorizations for prescribing and reimbursing treatment.