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.
Read more
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.
Read more
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
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.
The latest
In this presentation, Eoin Flanagan, M.B., B.Ch., a leading specialist in neuroimmunology at Mayo Clinic, provides a clear and clinically focused overview of autoimmune conditions that affect the developing nervous system.
This microlearning will help learners develop the ability to include autoimmune movement disorders and related phenomena as part of the differential diagnosis, gain proficiency in categorizing autoimmune movement disorders based on phenotype and clinical progression, and identify effective strategies for diagnosing and managing autoimmune movement disorders.
JoAnne Michael’s symptoms started with dizziness and forgetfulness before down spiraling into severe confusion, crying jags, and brain seizures. ER doctors at her local hospital initially thought she was on drugs. JoAnne, terrified, wondered if she was dying. Luckily, she had a guardian angel by her side: her mother, a retired nurse practitioner, who took her to Mayo Clinic, where the clinical experience and expertise of neurologist Andrew McKeon, M.B., B.Ch., M.D., helped give her a diagnosis and hope for a journey back to health.
John Mills, Ph.D., and Divyanshu Dubey, M.B.B.S., explain how Mayo Clinic Laboratories' new test panel can distinguish among various potential causes of demyelinating neuropathies. Test results are important for managing these devastating autoimmune conditions.
Anastasia Zekeridou, M.D., Ph.D., explains how Mayo Clinic Laboratories' updated panels and methodology boost the accuracy and efficiency of testing for three autoimmune neurology biomarkers. Early diagnosis is key to managing debilitating conditions associated with these antibodies.
Divyanshu Dubey, M.B.B.S., explains how Mayo Clinic Laboratories' unique PDE10A and TRIM46 tests facilitate the management of central nervous system disorders triggered by cancers. Early diagnosis and treatment are important for managing disabling neurological symptoms and malignancy.
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.
Antibody against the GABA-A receptor is a biomarker of autoimmune encephalopathy that occurs across the lifespan, and disproportionately affects children. In this test-specific episode of the "Answers From the Lab" podcast, Andrew McKeon, M.B., B.Ch., M.D., explains how Mayo Clinic Laboratories' GABA-A receptor antibody assay aids diagnosis of this serious but treatable condition.
In this “Hot Topic,” Divyanshu Dubey, M.B.B.S., associate professor of laboratory medicine and pathology and neurology at Mayo Clinic, discusses various clinical and paraclinical features of autoimmune encephalitis, autoimmune seizures, and epilepsy.
In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Department of Laboratory Medicine and Pathology at Mayo Clinic, is joined by Vanda Lennon, M.D., Ph.D., founder of the Neuroimmunology Laboratory and now director of the Neuroimmunology Research Laboratory at Mayo Clinic. Dr. Pritt and Dr. Lennon discuss the research and testing innovations that have led to critical advancements in the field of autoimmune neurology over the last few decades.
Tying together the expertise and curiosity of Mayo Clinic autoimmune neurology researchers with eager patients who have rare disease and are looking for answers, the innovative collaboration benefits both patients affected by MOGAD and scientists on the front lines of discovery.
Joe Mondloch and his wife Sue have existed in a grey area of uncertainty due to the unpredictable autoimmune neurological illness Joe has lived with for the last seven years. Rare, incurable, and debilitating, the newly classified disorder can be hard to manage. But thanks to information and direction provided by a rare disease advocacy group, the Mondlochs sought care at Mayo Clinic and received much more than answers.
Sean Pittock, M.D., explains how Mayo Clinic Laboratories' novel Ma2 test aids diagnosis of autoimmune neurology disorders that are often caused by underlying cancer. Rapid diagnosis is key to preventing significant disability and disease.
Resources
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.