In December 2022, Canadian singer Celine Dion announced to the world that she had been diagnosed with stiff person syndrome (SPS). For many, this was their first time hearing about this rare neurological disorder. SPS is one of more than 10,000 rare diseases, according to the National Institutes of Health (NIH), so it’s easy to understand why some people may not have known about SPS before Dion announced her diagnosis. But what is SPS, and how does donated plasma help those who are living with it?
SPS is a rare and progressive neurological disease that has autoimmune features, and it’s estimated that it affects nearly one person in 1,000,000, and most of those affected are women. On average, it takes seven years to identify in patients and is often misdiagnosed as multiple sclerosis, Parkinson’s disease, fibromyalgia, or autoimmune diseases.
SPS causes progressive muscle stiffness and severe muscle spasms that lead to chronic pain, falls, and loss of mobility over time. The stiffness and spasms typically begin in the legs and torso and, over time, can spread to the arms, face, and other extremities. Those living with SPS can experience muscle spasms that are so forceful they dislocate joints or break bones. Eventually, people with SPS can develop hunched postures or become unable to walk or move. They are also more prone to other injuries due to the rigidity they experience trying to use normal reflexes, like catching themselves during a fall.
While currently, the cause of SPS is unknown, it is thought to be an immune response that has gone wrong within the brain and spinal cord. There is currently no cure for SPS. There are treatments available to help manage PS symptoms; However, a treatment that may help one person may not help another. Since SPS is a complex disorder, each treatment plan is personalized and typically addresses the syndrome’s autoimmune, neurologic, visual, mobility, and pain aspects. A combination of medication (muscle relaxers, medications that have some effect on the chemical messenger in the brain, and more) and non-medication treatments (physical therapy, chiropractic treatments, acupuncture, and more) are used to try and minimize the severity and intensity of symptoms. Determining which combination works best requires ongoing re-evaluation, as the benefits of certain treatments may diminish with time.
Over the last several years, peer-reviewed clinical studies have shown that plasma-based therapies, such as immunoglobulin (Ig) replacement therapy and therapeutic plasma exchanges (TPE), are beneficial and well-tolerated in improving symptoms commonly associated with SPS.
Ig replacement therapy–intravenous (IVIG) and subcutaneous (SCIG)–is used by many rare disease communities. A National Institute of Neurological Disorders and Stroke (NINDS) study found that IVIG treatment is effective for those with SPS in reducing stiffness, sensitivity to noise, touch, and stress, and helps to improve gait and balance. IVIG is a plasma-derived therapy that uses donated plasma from healthy donors.
TPE is a method that removes unwanted substances, such as toxins, inefficient antibodies, and metabolic substances, from the blood. The individual with SPS is connected to an apheresis apparatus where the blood is removed from the body, the blood cells and plasma are separated, and the plasma is replaced with an albumin solution made from donated plasma. The idea is to remove the antibodies and proteins that contribute to immune dysregulation and stop the worsening of any immune-related symptoms.
A 2021 study from the National Center for Biotechnology Information (NCBI) shows that TPE can be useful for SPS symptoms that aren’t responding to standard medical therapy, and TPE has a low frequency of complications. Another study from NCBI, “Role of plasma exchange in stiff person syndrome,” concluded that TPE might be beneficial for managing SPS symptoms as a complementary therapy in patients with worsening symptoms.
The American Academy of Neurology (AAN) study “Blood treatment is safe, may help treat stiff person syndrome,” which was presented at the AAN 2022 summer conference, looked at the medical records of 36 individuals with SPS who received TPE. The research found that over half (56%) of those patients saw an improvement, and twelve individuals needed fewer medications to treat symptoms after undergoing TPE. Only four individuals had complications, and there were no deaths or anaphylaxis. Study author Dr. Scott D. Newsome of Johns Hopkins University in Baltimore, Maryland, and Fellow of the American Academy of Neurology, said that this study focused on the safety of those with SPS and further studies can help confirm the results and help inform doctors on when to use TPE as a treatment for SPS.
Even though the current research shows that these plasma-based treatments lead to an improvement in patients, it is still mostly being reserved to treat only those cases of SPS that are resistant to standard medical treatments.
There is still much to learn about SPS, including how to treat it. To learn more about SPS, visit the Stiff Person Syndrome Research Foundation.
Do you donate plasma because someone you know has SPS or another chronic, rare disorder? Share your story and become a Plasma Hero.
Get the latest information regarding plasma in through our news & updates. Featuring: Scientific discoveries, plasma supply, industry related coverage, policy and legislation, and more!