The discovery of a multi-level arteriovenous malformation (AVM) in the thoracic epidural space can now bring relief to potentially thousands of suffers of chronic thoracic pain and progressive myelopothy. Identified as thoracic epidural arteriovenous malformation (T.E.A.M.), this particular AMV primarily affects younger women ages 20 to 40.
While AVMs are rare, affecting approximately 300,000 people, according to the National Institutes of Health, AVMs in this particular multi-level location have previously not been documented in medical literature. Symptoms of this condition include severe pain in the middle back area extending to the chest, loss of function and coordination of the lower extremities, hyperreflexia, muscle spasms and severe pain at night.
The discovery was made by neurological spine surgeon Dr. Robert S. Bray Jr., the CEO and founder of D.I.S.C. Sports and Spine Center. He will present his initial findings at the annual Congress of Neurological Surgeons in New Orleans on Oct. 24-29, 2009.
Undiagnosed, patients are left without viable treatment options that can result in chronic pain, permanent nerve damage and even paralysis of the lower extremities. Corrective action can now be taken with an outpatient microsurgical procedure (laminotomy) that takes approximately one and half to three hours. By clipping the malformation, the pulsing blood flow to the epidural space is interrupted, thus reducing the pressure on the spine.
Following surgery, significant reversal of symptoms and reduction of pain has been documented in all the cases reported, with recovery varying from two months to one year, based on the extent of the disease's progression.
"The discovery of this new syndrome will help alleviate the needless suffering of patients, especially young women, who are struggling with chronic back pain and neurologic deficits that have previously been undiagnosed or have been completely missed diagnosed," said Dr. Bray, one of the first neurosurgeons in the country to dedicate his practice to minimally invasive spine procedures 20 years ago. "With micro surgical techniques, we are able to remove the malformation and help patients regain an active lifestyle. In the past two years, we have identified 10 patients with this disease, which is quite a high number for any practice, leading me to believe there are potentially thousands affected that can be helped."
All 10 patients were female. Five have undergone surgery that has led to a reversal of their neurologic deficits and improvement or total resolution of their pain syndromes. The other five are being monitored and have not required surgery. Dr. Bray and D.I.S.C. are currently in the process of collecting the data on these patients with long-term follow-ups for future peer-reviewed publications.
The difficulty of the diagnosis was the inability of the AVM to show up in a traditional MRI. The impetus that led to the discovery was a surgical procedure on a young woman to remove a lipoma, which is generally benign fatty tissue. Upon visual inspection, an AVM was discovered and confirmed through pathological studies. Collaborating with Dr. Rachael Gordon of Mink Radiology, a specially-designed sequencing scan consisting of gadolinium dye was developed that clearly identifies the malformation.
Whitney, a 28-year-old screenwriter, was among the first patients Dr. Bray accurately diagnosed and was successfully treated with surgery in April, 2008. With symptoms developing approximately one year prior to her diagnosis, Anderson began a gradual decline that was exacerbated in the final six weeks with severe foot spams, loss of coordination and loss of sensation in her legs.
"At first I thought it was restless leg syndrome because at night my legs would jerk incessantly, keeping me awake," she said. "I had difficulty descending stairs, but shrugged it off as being out of shape. I was bumping into things, but then I'd always been a klutz. I had back pain, but thought that was because of stress. I was excusing the symptoms in every way until they became so pronounced I couldn't anymore. One day when I was snowboarding, I finally knew something was seriously wrong when I kept falling down for no good reason. That night I started feeling tingling in my toes and then numbness that started moving up my calf."
Initially Whitney was first diagnosed with possible multiple sclerosis, but when the hyperreflexia pointed to a potential thoracic spine problem she sought a second opinion from D.I.S.C. and was positively identified with T.E.A.M. disease.
"Whitney had a very severe case with the AVMs displaying at multiple levels, one of which was causing her spinal cord to be compressed," Dr. Bray said. "While it appeared her malformation had been there for a while, she was rapidly declining and facing possible permanent spinal cord damage and paralysis without surgery. We removed the multi-level AVM and it appears she has had near complete resolution of her pain and symptoms and most importantly able to enjoy her active life."
Whitney began a slow course of low activity two weeks post operatively and within a few months was able to begin more strenuous exercise. The tremors and leg jerking also began to dissipate and within 14 months she had nearly full reversal of symptoms and was pain free without any restrictions.
"The recovery was difficult, but obviously worth it," Whitney added. "If the AVMs had kept growing I am convinced I would have been paralyzed. I'm just grateful to have found Dr. Bray and to have had such a successful outcome with him."
For 44-year-old Kathleen, an animation producer who had previously undergone a cervical surgery by Dr. Bray but did not have the anticipated recovery, an additional workup was done. The results indicated the early presence of T.E.A.M. disease at five levels, which accounted for the continual pain and neurological deficit in her leg, although it was not related to the cervical spine issue. Following a second procedure for T.E.A.M., all issue were resolved and she was nearly 85% recovered with a very aggressive rehabilitation program just three-months post-operatively.
"Kathleen is a great example of how a prompt diagnosis and treatment can lead to a quick recovery," Dr. Bray said. "We were able to identify the presence of T.E.A.M. disease in the early stages and perform surgery before spinal cord damage had set in. I fully anticipate she will continue her rapid improvement and have full resolution of her symptoms."