Avoiding missed diagnoses and misdiagnoses in autoimmune neurology
Phenotype-specific evaluations provide diagnostic confidence
Patients with autoimmune neurological conditions deserve the best chance at an accurate diagnosis. These answers can make a real difference in a patient’s treatment and quality of life.
Traditional, underpowered paraneoplastic evaluations can lead to false-positive results or missed diagnoses. With our autoimmune and paraneoplastic phenotype-specific evaluations, physicians can order with confidence and diagnose with efficiency, putting patients on the right treatment path sooner.
The complete diagnostic picture
As the field of autoimmune neurology evolves, antibodies once dismissed as rare or of unclear significance are now understood to identify treatable disorders—still uncommon, but likely underrecognized. These antibodies are seldom included in non-specific, traditional paraneoplastic evaluations.
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The two most common antibodies, NMDA-R and GAD65, which account for almost half (46.1%) of positive cases of autoimmune/paraneoplastic encephalitis in adults, are available in our phenotype-specific evaluations but are seldom included in the limited, traditional paraneoplastic evaluations offered by other labs. The third most common antibody, LGI1, which represents 20.5% of positive cases, is also not found in most limited traditional paraneoplastic evaluations.1
In addition, some antibodies that were previously thought to aid diagnosis lack clinical relevance, which can lead to false-positive results and inappropriate treatment. For example, the voltage-gated potassium channel (VGKC) complex antibodies, found in some limited paraneoplastic evaluations, have been shown to lack clinical relevance and increase the risk of false-positive results.2
Stay at the forefront
At Mayo Clinic Laboratories, our research, clinical, and lab experts have developed an approach to autoimmune neurology testing that uses clinically relevant evaluations to lead to confident conclusions. Our evaluations make it easy for physicians to order the appropriate evaluation based on clinical presentation and feel confident they are getting a complete picture of their patient’s condition.
Mayo Clinic Laboratories is on the cutting edge of discovering new, clinically relevant antibodies, such as septin-5, septin-7, and PDE10A. Whether they are discovered here or elsewhere, we update our evaluations to ensure every relevant antibody is being evaluated for your patient. With our paraneoplastic phenotype-specific evaluations, you will always be at the cutting edge.
Do more for patients and providers
Neurological phenotype-specific evaluations ensure only the right test is performed for the patient, when it is needed, avoiding diagnostic delays and the need for redraws. Ruling out autoimmune-related causes of a patient’s condition with one test can also lead to cost savings, which may not be true of traditional, underpowered paraneoplastic evaluations.
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If the right antibody is not identified up front, additional tests may need to be ordered, potentially subjecting patients to another draw and unnecessarily delaying treatment. If a traditional limited paraneoplastic evaluation is ordered first and the result is negative, the patient’s diagnostic journey continues. Additional inconclusive tests may add cost and cause more patient distress.
Our approach provides peace of mind, knowing every path has been considered to reach the right diagnosis in the most efficient manner.
Autoimmune testing education
The latest
Autoimmune neurology testing has evolved beyond limited paraneoplastic evaluations to phenotype-specific panels that identify clinically relevant antibodies. This phenotype-specific approach significantly improves diagnostic accuracy, reduces false positives, and helps guide faster, more personalized treatment for complex neurological diseases.
Autoimmune encephalitis (AE) is a rare but serious condition, and accurate diagnosis is critical. Misdiagnosis can lead to unnecessary treatments, delayed care, and preventable complications.
Learn how a phenotype-specific autoimmune neurology evaluation diagnosed a treatable autoimmune encephalitis condition that was missed with a traditional paraneoplastic evaluation.
What started as a persistent headache for Spencer Lodin soon devolved into slowed speech, seizures, and hallucinations, symptoms which stumped ER doctors into thinking he had meningitis or was suffering from psychosis. Finally, specialized testing at Mayo Clinic identified Spencer's condition as GFAP-IgG associated autoimmune encephalitis, which allowed for targeted treatment and a full recovery.
One summer morning, James Kypuros awoke to find his toes stiffened like claws. Then he started having falls, which culminated in losing his ability to walk or even sit up without help. Diagnosed with stiff-person syndrome, James wouldn’t find hope or relief until he was treated for glycine receptor antibody syndrome following specialized testing by Mayo Clinic.
Explore the advantages of our autoimmune neurology testing.
Learn more about how our testing can make a difference for your patients. Schedule a time to discuss with one of our clinical specialists.
References
- Kunchok A, McKeon A, Zekeridou A, et al. Autoimmune/paraneoplastic encephalitis antibody biomarkers: frequency, age, and sex associations. Mayo Clin Proc. March 2022;97(3):547-559. https://doi.org/10.1016/j.mayocp.2021.07.023
- Lang B, Makuch M, Moloney T, et al. Intracellular and non-neuronal targets of voltage-gated potassium channel complex antibodies. J Neurol Neurosurg Psychiatry. 2017 Apr;88(4):353-361. doi:10.1136/jnnp-2016-314758. Epub 2017 Jan 23.