Robert R. Cawley, D.O.
Dover, NH 03802
Dr. Anne Louise Oaklander and Dr. Khosro Farhad have made it their life’s work to make their medical colleagues, and the public, aware of a new type of disease that may affect hundreds of millions around the globe – small-fiber polyneuropathy (SFPN).
Peripheral nerve specialists Dr. Oaklander, at Massachusetts General Hospital, and Dr. Farhad, at Wentworth-Douglass Hospital, long have been intrigued by the large numbers of patients suffering from unexplained wide-ranging symptoms such as widespread chronic pain, chronic fatigue and digestive problems.
Trained separately at top hospitals, Johns Hopkins and Columbia Presbyterian, they are among only a handful of doctors in the country aware that these symptoms often could be explained by dysfunction of a specific type of peripheral nerve cells, the “small fibers.” These neurons, outside the brain and spinal cord, can’t be seen under a microscope and aren’t detected by common nerve damage tests.
“This is very complicated to work on, not only because our nerves are scattered throughout the body, but because small fibers have so many different types of jobs, that patients’ symptoms can vary widely,” says Dr. Oaklander, director of Mass General’s Nerve Unit and an associate professor of neurology at Harvard Medical School. “You need to think outside the box because these small fibers affect all the other organs in the body.”
A chance meeting, at one of Dr. Oaklander’s lectures several years ago, prompted the start of their collaboration. Dr. Farhad began traveling to Mass General to learn more about Dr. Oaklander’s approach to patients and the two started working on research together. Dr. Oaklander recruited Dr. Farhad to see patients several days a month to help with up to a two-year waiting list at her clinic. And she refers waiting patients from north of Boston to Dr. Farhad’s Coastal Neurology Services office.
“To advise patients on the best diagnosis and treatment we have to do our own research because there’s nothing in the textbooks,” Oaklander says. “We are making discoveries in this emerging area of medicine as we go along.”
Improving diagnostics was the first push. The key test for detecting small-fiber neuropathy is a skin biopsy offered at limited hospitals across the country. Dr. Oaklander brought the test to Mass General’s Neuro Skin Biopsy lab and Dr. Farhad performs the biopsies at WDH, shipping them to Mass General for analysis. The two are developing a standardized neurological exam to detect SFPN and enable patients to be tracked to assess the effects of various treatments.
Their research has led to amazing results. The most groundbreaking may be a recent study in Therapeutic Advances in Neurological Disorders. They discovered, for the first time, an effective treatment of intravenous immunoglobulin that had the potential to improve nerve damage in patients diagnosed with what appeared to be autoimmune SFPN. “This is the first treatment that has the potential to actually improve nerve damage,” Dr. Oaklander says, “not just block symptoms with drugs such as opioids that don’t address its cause.”
Another study reported 40 percent of patients diagnosed with fibromyalgia actually have small-fiber neuropathy. It found in some patients the cause is previously undiscovered autoimmune disease that’s potentially treatable. In a paper in Pediatrics, they reported the first evidence that SFPN commonly affects children and adolescents. “They didn’t have any other possible medical explanation,” says Dr. Oaklander. “I became driven to help these young people whose lives were derailed when they became too sick to attend school.”
Dr. Farhad’s special interest is one symptom of small-fiber neuropathy, POTS (Postural Orthostatic Tachycardia Syndrome). Disabling fainting, chest pains and temperature sensitivity, among other symptoms, affect young women who often have been labeled with anxiety or fibromyalgia. Independent research has shown more than half of POTS patients have SFPN.
“My mission is to raise awareness,” Dr. Farhad says. “I am trying to spread the word by sending doctors emails, writing papers and giving talks.”
A POTS support group he started has 40-plus participants from as far away as northern Vermont. “We are doing some experimental treatments and immunotherapy,” Dr. Farhad says. “The difference has been life-changing. Eighty to 90 percent improve with treatments.”
An NIH grant proposal they are preparing for 2018 would conduct clinical trials of immunotherapies at WDH, Mass General and other local centers of excellence. Patients would be offered the same tests and treatments at all sites.
Because small-fiber disease appears so common and few doctors are familiar with it, both offer free public lectures. Oaklander will speak Feb. 5 at the Radcliffe Institute for Advanced Study at Harvard University in Cambridge, Mass. Online registration is available at https://www.radcliffe.harvard.edu/event/2018-anne-louise-oaklander-lecture.
They plan to offer a free public lecture in the spring at Wentworth-Douglass Hospital entitled, “Why am I having this pain? Research in Small-Fiber Neuropathy.” Date and time to be determined. Look for event notification and registration information soon at wdhospital.org and https://www.wdhospital.org/events.
“The reason why it’s so important is that it’s turning out to be among the most common neurological conditions,” Dr. Oaklander says. “And hardly anyone knows about it yet.”
Think you might have small-fiber polyneuropathy? Clinic appointments may be made at Coastal Neurology Services in Dover by calling (603) 749-0913 or with the Mass General clinic in Boston by calling (617) 743-8277.