Hughes Syndrome or MS?—Controversy Over UK ‘Misdiagnoses’
An article published in the August 22nd edition of the UK-based Times reports that hundreds of people with Hughes syndrome may have been misdiagnosed with multiple sclerosis (MS), however, health care professionals caution against drawing false hope from these findings.
The article states that, “Patients in whom MS was diagnosed-the disease affects about 85,000 people in Britain-have experienced seemingly miraculous recoveries on learning the true cause of their illness [Hughes syndrome], in some cases after decades of ignorance. Paralysed patients have regained the ability to walk and others have overcome debilitation, headaches, confusion and short-term memory loss with treatments involving blood-thinning drugs such as aspirin and warfarin.”
Hughes syndrome, often referred to as antiphospholipid syndrome (APS) or “sticky blood,” was discovered in 1983 and could affect as much as 1 in 500 people. People with the disease have an increased tendency to form clots in blood vessels (also known as thromboses). Symptoms can include abnormal movements, memory loss, seizures, angina, blotchy skin and headaches.
The Hughes Syndrome Foundation states that some people with the disease “develop a syndrome which is very similar to MS where they have numbness or pins and needles, double vision or loss of part of the field of vision, and have difficulty walking. Consequently, one of the main alternative diagnoses in patients with Hughes syndrome is MS,” and that the Foundation’s “clinical team are continually treating patients who had been previously misdiagnosed with ‘multiple sclerosis’.” ] According to the MS Society, UK’s largest charity for people affected with MS, the misdiagnosis of MS in what eventually turns out to be Hughes syndrome is a rare event. “The subsequent evolution of the disease is usually quite different with progressive loss of neurological function occurring in MS while the events in Hughes tend to follow a staircase-like pattern and the number of stairs can be one or many. However, numbness, pins and needles, double vision or partial vision loss, periodic memory problems and difficulty walking can be seen in both.”
There are two simple blood tests that can help avoid the misdiagnosis of MS: anticardiolipin antibodies test and the lupus anticoagulant test. For more information, please visit www.mssociety.org.uk and www.hughes-syndrome.org. For recent articles on the Hughes syndrome controversy, please visit www.timesonline.co.uk/article/0,,8122-2322986,00.html and www.guardian.co.uk/medicine/story/0,,1855847,00.html?gusrc=rss&feed=1.
High Caloric Diet May Prevent ALS Progression
A recent study published in the April 3, 2006 issue of BMC Neuroscience demonstrates that a ketogenichigh caloric diet (KD) may prevent the progression of Amyotrophic Lateral Sclerosis (ALS). The study, which was conducted by researchers at the Mount Sinai School of Medicine, is the first to show that a KD diet may alter the progression of ALS.
Researchers used a mouse model to examine the affects of a KD diet (high fat, low carbohydrates) on the progression of ALS. Motor performance, longevity, and motor neuron counts were then measured in treated and diseased mice. Study results showed that blood ketones were > 3.5 times higher in KD fed animals compared to controls. Ketones are substances that are made when the body breaks down fat for energy. KD fed mice also lost 50% of baseline motor performance 25 days later than the disease controls. The interaction between diet and change in weight was significant; KD mice weighed 4.6g more than the disease control group at study endpoint. In spinal cord sections obtained at study endpoint, there were more motor neurons in KD fed animals.
“ALS is such a devastating disease for those individuals diagnosed with the disorder,” said Giulio Maria Pasinetti, MD, PhD, professor of Psychiatry and Neuroscience, director of the Neuroinflammation Research Center at The Mount Sinai School of Medicine and lead author of this study. “The findings assert the significance of certain high caloric dietary intake in the prevention of ALS. In view of any available therapeutic application for the disease, this new evidence might bring hope to those affected.”
ALS, often referred to as “Lou Gehrig’s disease,” is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. The gradual deterioration of the motor neurons causes them to eventually die, leading to the inability of the brain to initiate and control muscle movement. The later stages of the disease can cause some patients to have complete paralysis. Approximately 5,600 people in the US are diagnosed with ALS each year. A majority of people develop ALS between the ages of 40 and 70, with an average age of 55 at the time of diagnosis.
For more information, please visit www.biomedcentral.com/bmcneurosci/. The complete study can be viewed at www.biomedcentral.com/1471-2202/7/29.
Study Discovers Risk Factors Associated with Neural Tube Defects in China
A Chinese population-based control study published in the January 2006 issue of Paediatric and Perinatal Epidemiology found that an increased risk of neural tube defect (NTD)-affected pregnancy was associated with a low level of maternal education; previous history of a pregnancy complicated by a birth defect; history of a fever or ‘cold’ during early pregnancy, use of anticonvulsants, sedatives, antibiotics, analgesics, and antipyretics before and during early pregnancy; daily exposure to passive cigarette smoke; and consumption of pickled vegetables.
The study was conducted in four counties (Pingding, Xiyang, Taigu and Zezhou) in Shanxi province, a coal mining region in Northern China that has one of the highest reported NTD prevalence rates in the world. According to researchers, the overall birth prevalence of NTDs in the four counties was 13.9 per 1,000 births in 2003, and was >10 per 1,000 births in each county.
“Risk for NTDs was inversely related to the level of maternal education, with women who had a primary school education or less having more than a twofold risk, compared with those with higher education. A similar association with low education was found in a US study, and a number of studies have reported an association between low socio-economic status and the risk for NTDs, in part due to lack of awareness of the potential benefit of folic acid supplements in preventing NTDs, or of the importance of periconceptional consumption of folic acid among women with less education,” researchers reported.
Li Z, Ren A, Zhang L, Guo Z and Li Z. A population-based case-control study of risk factors for neural tube defects in four high-prevalence areas of Shanxi province, China. Paediatric and Perinatal Epidemiology, 2006; 20: 43-53.
Olfactory Cell Transplantation Shows Potential in SCI Recovery
Researchers from the Hospital de Egas in Lisbon, Portugal and Wayne State University Medical School in Michigan, USA conducted a study which found that olfactory mucosa autograft transplantation into the human injured spinal cord is feasible, relatively safe, and may possibly promote functional recovery.
The olfactory mucosa, which lines the nasal cavity, is the region of the nasal passage where highly specialized cells detect odor-producing chemicals. Tissue from this region was transplanted into the spinal cord lesions of seven patients, ranging from 18 to 32 years of age. The lesions ranged from 1 to 6 cm and were present at the C4-T6 levels.
MRI results revealed moderate to complete filling of the lesion sites after transplantation and a majority of the patients showed improvement in sensory and motor function.
The study was reported in the Journal of Spinal Cord Medicine and published by the American Paraplegia Society. Researchers believe their findings warrant further investigational clinical trials.
The Journal of Spinal Cord Medicine, Volume 29, Number 3, 2006. For more information, please visit www.apssci.org/.
