Welcome to Study of the Week from Patient Worthy. In this segment, we select a study we posted about from the previous week that we think is of particular interest or importance and go more in-depth. In this story we will talk about the details of the study and explain why it’s important, who will be impacted, and more.
If you read our short form research stories and find yourself wanting to learn more, you’ve come to the right place.
This week’s study is…
Residual serum fibrinogen as a universal biomarker for all serotypes of Myasthenia gravis
We previously published about this research in a story titled “STUDY: Fibrinogen Levels Higher in Myasthenia Gravis, Could Be Used as Biomarker” which can be found here. The study was originally published in the research journal Scientific Reports. You can read the full text of the study here.
This research was affiliated with the University of Alberta.
What Happened?
Myasthenia gravis is typically diagnosed with a blood test searching for the autoantibodies that are commonly characteristic in people living with this autoimmune disease. However, not all people experiencing symptoms of the disease have these autoantibodies, making this an imperfect approach. Additionally, it can take weeks to get results for these tests. Some patients are living undiagnosed, and getting an accurate diagnosis can take as long as two years on average. The goal of this research was to identify a more effective method for diagnosis of myasthenia gravis, a rare disease.
The researchers took blood samples from 31 people living with the disease. These were compared with samples from 18 people living with rheumatoid arthritis, a different autoimmune illness, and 30 healthy controls. The team used multiple proteomics methods in order to evaluate the proteins in the samples and found that all of the patients with myasthenia gravis had elevated fibrinogen, a protein that is typically involved in blood clotting. Use of other techniques using blinded samples reached similar results.
The research team concluded that fibrinogen could be a useful biomarker that can be detected with relatively simple blood tests available in most basic medical facilities. Levels of fibrinogen in the patients were around 1000 times greater than that in the control groups. While some other biomarkers for the illness have been found in recent years, these require more costly and complex testing that is only available at a few locations. Fibrinogen could be used to greatly accelerate diagnosis and treatment, and could also be used to monitor if a patient is responding to treatment.
Why Does it Matter?
Diagnosis of myasthenia gravis, like the majority of rare diseases, is currently an arduous and time-consuming process that can take years. Meanwhile, patients suffer from worsening of symptoms and disease progression, resulting in poorer treatment outcomes. Symptoms are not distinctive enough and can easily be confused with more common diseases.
Furthermore, current diagnostic methods are simply ineffective for patients that don’t test positive for known antibodies, which might be as much as 50% of patients. The discovery of fibrinogen as a potential biomarker could greatly improve diagnostic rates for myasthenia gravis, allowing patients to receive the correct diagnosis more quickly. Consequently, they could also begin treatment earlier in the disease course.
“This is a serious disease where you see the patient getting worse in front of your eyes, so we want to have rapid and early diagnosis…We have found a simple and universal biomarker for all types of myasthenia gravis regardless of the stage of the disease, so I hope we can use this methodology to diagnose patients much quicker.” – Dr. Zaeem Siddiqi, neurologist, principal investigator, professor, Department of Medicine, University of Alberta
About Myasthenia Gravis
Myasthenia gravis is a long term autoimmune disease that is most characterized by weakness of the skeletal muscles which can affect a patient’s ability to move and breathe. As an autoimmune disease, myasthenia gravis is ultimately the result of abnormal immune system behavior in which the system attacks normal body tissue. In this disease, the immune system produces antibodies that inhibit regular neuromuscular function. Symptoms of the illness include muscle weakness that worsens after activity and gets better after resting. This weakness may affect the face, eyes, neck, breathing, and limbs. It may cause speech and swallowing difficulties, eyelid drooping, shortness of breath, and blurred vision. In severe cases, patients may require breathing assistance with a ventilator. Treatment options for myasthenia gravis include immunosuppressive medications, thymus gland removal, IVIG, and plasmapharesis. Most patients can effectively manage the condition with treatment. To learn more about myasthenia gravis, click here.
