Getting a misdiagnosis of Alzheimer’s disease (AD) can be devastating, but 1 in 5 AD cases may be incorrect. In fact, one patient who was misdiagnosed with AD said the treatment he was under for seven years destroyed his life. The problem is that current AD diagnostic approaches have inadequate accuracy, especially in the early stages of the disease and other mixed dementias.
The most promising breakthrough is an autopsy-confirmed, minimally invasive skin test to support clinicians’ definitive diagnosis of AD vs. other forms of dementia. DISCERN™, for instance, is a diagnostic test that assesses the factors directly related to the formation of synaptic connections in the brain impacting 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.
This test has greater than 95% sensitivity and specificity in the diagnosis and management of AD and combines three biomarkers: 1) Morphometric Imaging to measure fibroblasts’ ability to form networks, 2) Protein Kinase C ε to measure synaptic growth and 3) AD-Index to measure phosphorylation of Erk1 and Erk2 in response to bradykinin.
Until now, only autopsies have been definitive to validate an AD diagnosis even in mixed dementia patients. Current 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.
An early diagnosis also enables patients to begin clinical interventions sooner, providing cost savings for payers, as well as saving time, money, and the despair of not knowing for those involved.
Impact of Misdiagnosis
Most people with AD are 65 and older, with symptoms growing worse over a number of years. In the early stages of AD, memory loss is mild but gradually 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 5 million to 16 million by 2050. Given the complexity of this disease, avoiding misdiagnosis is critical for ensuring that people get the right treatment as soon as possible.
Leading and often treatable conditions that can be mistaken for AD include:
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. For example, 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 progress to dementia.
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. Misdiagnosis
Other common causes of memory loss include urinary tract infections, thyroid disease, diabetes, vitamin B12 deficiency, normal pressure hydrocephalus, and vision and hearing problems. Misdiagnosis
Early, Accurate Diagnosis
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. It also identifies the AD-specific degeneration for a definitive diagnosis even in the presence of other co-existing degenerative disorders.
This new AD test should be considered a tool to manage appropriate patient access to future approved therapies, in addition to the clinical and economic benefits of improved early, accurate diagnosis. Misdiagnosis
Key factors to look for in an AD test include:
- Accurate diagnosis of AD through a minimally invasive procedure in the clinician’s office
- Accurately assess several critical factors directly related to AD that regulate memory, 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
- Demonstrates high specificity and sensitivity >95% in both early and late-stage AD and distinguishing AD in people living with mixed dementia.
An accurate test gives providers, patients and their families a definitive answer about AD 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.
Author: Frank Amato, President and CEO, SYNAPS Dx