Sunday, March 22, 2015

New cholesterol-lowering drug 'could halve risk of heart attack, stroke'

Currently, statin therapy is the standard treatment for many patients with high cholesterol. But a new study published in The New England Journal of Medicine claims a drug called evolocumab could be much more effective; it reduced cholesterol levels so dramatically that patients' risk of cardiovascular events - such as heart attack and stroke - fell by more than half, compared with those receiving standard therapy alone.

High cholesterol levels
Around 71 million people in the US have high LDL cholesterol, putting them at increased risk of cardiovascular diseases.
Lead study author Dr. Marc Sabatine, a senior physician at Brigham and Women's Hospital in Boston, MA, and colleagues recently presented their findings at the American College of Cardiology's 64th Annual Scientific Session in San Diego, CA.
The study was a 1-year extension of 12 phase 2 and 3 clinical trials that had assessed evolocumab's ability to reduce levels of low-density lipoprotein (LDL) cholesterol - commonly referred to as "bad" cholesterol because of the role it plays in blocking the arteries
According to the Centers for Disease Control and Prevention (CDC), around 71 million Americans have high LDL cholesterol - blood levels at 160 milligrams per deciliter (mg/dL) or higher. High LDL cholesterol can raise the risk of heart attack, stroke and heart disease.
The 4,465 patients involved in the study had been a part of at least one of the previous trials investigating evolocumab, which works by blocking a protein that stops the liver from removing LDL cholesterol from the blood - called proprotein convertase subtilisin-kexin 9 (PCSK9).
Of the participants, 2,976 were randomized to receive an injection of evolocumab under the skin every 2 or 4 weeks plus standard therapy, while 1,489 patients received standard therapy alone, which mostly involved moderate- or high-intensity statin therapy. The average follow-up duration was 11.1 months.
The study was open-label, meaning the participants were fully aware of the treatment they were receiving, as were the researchers. However, a central committee that reviewed the data - assessing the effects of evolocumab on LDL cholesterol levels and reporting any cardiovascular events during follow-up - was blinded to the treatment groups.

Evolocumab linked to 53% reduction in cardiovascular events

At study baseline, the average LDL cholesterol level among participants was 120 mg/dL, which the researchers say is similar to the average level found among the general population.
However, the team found that patients treated with evolocumab experienced an average 61% reduction in LDL cholesterol levels. Within 12 weeks, LDL cholesterol levels reduced to less than 100 mg/dL - defined as the optimal range - in 90.2% of evolocumab-treated patients, while levels reached 70 mg/dL or less for 73.6% of patients who received the drug. These reductions were sustained throughout the entire follow-up period, the researchers report.
In comparison, only 26% of patients who received standard therapy alone saw their LDL cholesterol levels fall below 100 mg/dL, while only 3.8% had such levels fall below 70 mg/dL.
What is more, compared with patients who received standard therapy alone, those treated with evolocumab experienced a 53% reduction in cardiovascular events, including heart attack, stroke, hospitalization, angioplasty and death; evolocumab-treated patients had a 0.95% risk of a cardiovascular event during follow-up, while standard-therapy patients had a 2.18% risk.
The team says these results remained even after accounting for patients' age, baseline LDL levels, statin use, primary or secondary prevention and incidence of valve disease. Evolocumab was also found to be well tolerated by patients.
However, the researchers admit their study is subject to some limitations. They note, for example, that the number of cardiovascular events in the study was relatively small, with only 60 identified.
Still, the team believes the findings show that not only is evolocumab effective for dramatically reducing cholesterol levels, but it may be effective for rapid risk reduction of cardiovascular events. Dr. Sabatine adds:
"The reduction in LDL was profound and that may be why we saw a marked reduction in cardiovascular events so quickly. It suggests that if we can drive a patient's LDL cholesterol down a large amount to a very low level, we may start to see a benefit sooner than would be expected with a more modest intervention."
The researchers note that because evolocumab works differently to statins - which block an enzyme in the liver that is responsible for making cholesterol - the drug also holds hope for patients who do not respond to statins or who are unable to tolerate them.
Evolocumab is currently undergoing further testing in a clinical trial involving more than 27,500 patients, the results of which are expected in 2017. Though Dr. Sabatine notes that no definitive conclusions about evolocumab's effectiveness can be made until then, this current study shows promise.
"We know from previous research that evolocumab lowers LDL cholesterol, but these data offer support for their potential to reduce major adverse cardiovascular events in our patients," Dr. Sabatine adds.
The study was funded by Amgen - the biopharmaceutical company that manufactures evolocumab.
In January, Medical News Today reported on a study that identified a more natural way to reduce LDL cholesterol: avocados. Published in the Journal of the American Heart Association, the study revealed that eating one avocado a day as part of a moderate-fat diet reduced LDL cholesterol levels by 13.5 mg/dL for participants who were overweight or obese.
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Diabetes drugs may promote heart failure, study finds

Patients who manage type 2 diabetes with drugs that lower glucose or blood sugar may be at higher risk for heart failure.

diagram of chest showing heart and blood vessels
Heart failure is common in patients with type 2 diabetes.

This was the finding of a comprehensive analysis of clinical trials covering more than 95,000 patients reported in The Lancet Diabetes and Endocrinology. The study was also presented at the 64th Annual Scientific Session of the American College of Cardiology in San Diego, CA, earlier this week.
Heart failure - where the heart does not pump enough blood around the body at the right pressure - is a common condition in patients with type 2 diabetes.
Heart failure has a major impact on the quality of life of patients and is a major driver of health care costs in the US.
The Centers for Disease Control and Prevention (CDC) estimate heart failure costs the nation $32 billion each year. This figure includes the cost of health care services, medications and missed days of work.
For the new study, the investigators searched libraries of published studies for large, randomized controlled trials of type 2 diabetes glucose-lowering drugs or strategies that assessed cardiovascular outcomes.
Fourteen trials involving a total of 95,502 participants matched their criteria. They pooled and analyzed the data to calculate the relative risks of heart failure posed by each of the type 2 diabetes medications or treatments.
A heart failure event occurred in 4% of patients during the individual trials they participated in, while 9.8% suffered a major cardiovascular event, such as heart attack or stroke.

14% increased risk of heart failure in patients on sugar-lowering drugs to manage diabetes

Lead investigator Dr. Jacob Udell, of the Peter Munk Cardiac Centre at the University Health Network (UHN) and the Women's College Hospital (WCH), both in Toronto, Canada, says they found:
Fast facts about heart failure
  • Breathlessness, tiredness and swollen ankles are the main symptoms of heart failure
  • While it is a serious condition, it does not mean the heart has stopped beating
  • About 5.1 million people in the US have heart failure.
"Patients randomized to new or more intensive blood sugar-lowering drugs or strategies to manage diabetes showed an overall 14% increased risk for heart failure."
He explains that the "increased risk was directly associated with the type of diabetes therapy that was chosen, with some drugs more likely to cause heart failure than others, compared with placebo or standard care."
Senior author Dr. Michael Farkouh, chair of the Peter Munk Centre of Excellence in Multinational Clinical Trials, adds:
"While some drugs showed an increased risk, other strategies tested, such as intensive weight loss to control blood sugar, showed a trend towards a lower risk for heart failure.
Overall, the results show that for every kilo of weight gain due to sugar-lowering diabetes treatment, there was an associated 7% higher risk of heart failure directly linked to that treatment.
The authors note that the relative increase in the risk of heart failure outweighed a 5% fall in heart attacks.
They also calculated that for around every 200 patients treated, there was one extra hospital admission for heart failure after an average follow-up of 4 years.
In the following video, Dr. Udell summarizes the findings and implications of their study for patients, doctors and researchers:
Dr. Barry Rubin, medical director of the Peter Munk Cardiac Centre at UHN, says:
"The results of this study could prove to be the catalyst for how diabetes patients at risk for heart disease are managed moving forward."
Medical News Today recently reported a new study that assesses the global economic impact of type 2 diabetes. The authors conclude that the US has the highest lifetime health care costs associated with type 2 diabetes. They calculate that the lifetime health care costs of the disease among Americans is $283,000, the highest among countries with similar average income levels.
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Are people who bite their nails perfectionists?

Pulling hair, biting nails, picking skin - these are common, if frustrating, behaviors. But what do they mean for the people who suffer from these repetitive behaviors? Researchers from the Institut universitaire en santé mentale de Montréal and the University of Montreal, Canada, investigate in a new study.

woman biting nails
The researchers found that participants engaged in repetitive behaviors when under stress or when they felt bored or frustrated, but not when they were relaxed.
"Chronic hair-pulling, skin-picking disorder and nail-biting and various other habits are known as body-focused repetitive behaviors. Although these behaviors can induce important distress, they also seem to satisfy an urge and deliver some form of reward,'' says principal investigator Kieron O'Connor.
O'Connor and colleagues studied 24 individuals with these repetitive behaviors and compared them with 24 control subjects who did not have body-focused repetitive behaviors.
The participants completed questionnaires to assess emotions such as boredom, anger, guilt, irritability and anxiety, and also took part in a clinical evaluation conducted over the phone.
Next, the participants were exposed to different experimental situations, each designed to stir one of four emotions:
  • Stress
  • Relaxation
  • Frustration
  • Boredom.
In some cases, these experimental situations involved the participants viewing videos - such as of a plane crash (stress) or waves on a beach (relaxation). To prompt frustration in the participants, the researchers set their subjects a task that was described as "easy and quick," but which in reality was difficult and long. To provoke boredom, they simply left the participant in a room on their own for 6 minutes.
The team found that, during the boredom and frustration experiments, subjects with a history of body-focused repetitive behaviors reported a stronger desire to engage in the behaviors. However, participants were not more likely to pull their hair, bite their nails or pick their skin during the relaxation experiment.
According to the authors of the study - which is published in the Journal of Behavior Therapy and Experimental Psychiatry - these results confirm that participants engage in these behaviors when under stress or when they feel bored or frustrated, and as such are not simply "nervous" habits.

Repetitive behaviors may be 'perfectionistic'

O'Connor explains the study's findings:
"We believe that individuals with these repetitive behaviors may be perfectionistic, meaning that they are unable to relax and to perform tasks at a 'normal' pace. They are therefore prone to frustration, impatience and dissatisfaction when they do not reach their goals. They also experience greater levels of boredom."
"The findings suggest that individuals suffering from body-focused repetitive behaviors could benefit from treatments designed to reduce frustration and boredom and to modify perfectionist beliefs," concludes first author Sarah Roberts.
A 2006 study by scientists at Duke University Medical Center in Durham, NC, suggested that gene mutations may cause compulsive pulling of the hair, also known as trichotillomania.
Trichotillomania affects 3-5% of the general population and often results in noticeable patches of baldness, though people with this impulse control disorder - which may be accompanied by anxiety, depression, obsessive compulsive disorder or Tourette syndrome - often do not seek treatment.
The Duke researchers identified an association between two mutations in the gene SLITKR1 and trichotillomania, although the scientists said the mutations only account for a small percentage of trichotillomania cases.
However, as impulse control disorders are typically blamed on a person's upbringing or life experiences, these findings were considered significant as they offered a biological basis for these conditions.
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'Groundbreaking' malaria discovery holds hope for new treatments

Malaria was responsible for approximately 584,000 deaths in 2013, the majority of which were among children in Africa. Now, researchers from Michigan State University claim to have made a groundbreaking discovery about cerebral malaria, a deadly form of the disease: it is brain swelling that causes children to die from it - a finding that may pave the way for new treatments.

A mosquito
Malaria is caused by Plasmodium parasites transmitted by a bite from infected Anopheles mosquitoes.

Malaria is caused by Plasmodium parasites transmitted by a bite from infected Anopheles mosquitoes. Though a curable disease if treated quickly and correctly, it remains responsible for hundreds of thousands of deaths each year.
In Africa - where more than 90% of malaria deaths occur - a child dies from the disease every minute. It is estimated that in 2013, 437,000 African children died from the disease before they reached their fifth birthday.
Cerebral malaria is one of the most common causes of death from the disease. It occurs when blood cells containing the Plasmodium parasite block blood vessels to the brain. This can cause brain inflammation and brain damage.
Scientists have seen much success in finding treatments that can kill the Plasmodium parasite, tackling malaria at its root. In December 2014, for example, Medical News Today reported on a study published in the Proceedings of the National Academy of Sciences, in which researchers identified an antimalaria compound that destroyed all traces of the parasite in mice within 48 hours.
The Michigan State researchers - led by Dr. Terrie Taylor - say progress in finding ways to treat the effects of malaria, however, has moved at a much slower pace. But with the help of magnetic resonance imaging (MRI), Dr. Taylor and her team believe they may be closer to identifying such treatments.

Death in cerebral malaria 'caused by brain stem compression'

Dr. Taylor spends 6 months a year at the Queen Elizabeth Hospital in Malawi, treating and studying children with malaria. In 2008, the hospital received an MRI scanner - a tool that, though common in developed countries, is very rare in Africa.
The research team used MRI to analyze the brain images of hundreds of children with cerebral malaria, some of whom had survived the disease and some of whom had died from it.
The results of the analysis, which are published in The New England Journal of Medicine, revealed that children who had survived the disease never experienced brain swelling, while the majority of those who died experienced severe brain inflammation. "This was a triumphant moment," says Dr. Taylor. "I wanted to say to the parasite 'Ha! You never thought we'd get an MRI, did you?'"
In detail, the researchers found that the brain of some children with cerebral malaria becomes so inflamed that the organ is pushed out through the bottom of the skull, compressing the brain stem. This can cause a child to stop breathing, leading to their death.
Commenting on the team's discovery, Dr. Taylor says:
"Because we know now that the brain swelling is what causes death, we can work to find new treatments.
The next step is to identify what's causing the swelling and then develop treatments targeting those causes. It's also possible that using ventilators to keep the children breathing until the swelling subsides might save lives, but ventilators are few and far between in Africa at the moment."
Last month, Medical News Today reported on a study published in the International Journal of Systematic and Evolutionary Microbiology, in which researchers claim genetically modifying a newly discovered strain of bacteria in mosquitoes could prevent malaria transmission.
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What is 'sharenting' and should we be worried by it?

Pretty much everyone knows what the phrase "Charlie bit me" relates to. Uploaded to YouTube in 2007, the clip of an English toddler and his baby brother is the most viewed viral video in the world (excepting professional music videos). But has the success of this and similar clips encouraged parents to over share their children's exploits on social media? According to a new report, three quarters of parents have witnessed episodes where this "sharenting" trend has gone too far.

dad taking a selfie with baby
By the time children are old enough to use social media themselves, many of them already have an established online identity created for them by their parents.
Although most of us find videos and photos of kids doing funny things cute or entertaining, the researchers behind the report, the University of Michigan (U-M) C.S. Mott Children's Hospital National Poll on Children's Health, note a dark side to sharing this kind of information about children online.
For instance, there is an extreme phenomenon called "digital kidnapping," which involves strangers hijacking online images of children and presenting them as being their own children within their social media - often creating elaborate, fictitious parallel lives for these children.
Another potential risk is more prosaic, but no less damaging - cyberbullying. For instance, the report authors refer to the news in 2013 of a Facebook group notorious for making fun of "ugly" babies.
Indeed, by the time children are old enough to use social media themselves, many of them already have an established online identity created for them by their parents.
As Sarah J. Clark, associate director of the C.S. Mott Children's Hospital National Poll on Children's Health and associate research scientist in the U-M Department of Pediatrics, explains:
"Sharing the joys and challenges of parenthood and documenting children's lives publicly has become a social norm so we wanted to better understand the benefits and cons of these experiences. On one hand, social media offers today's parents an outlet they find incredibly useful. On the other hand, some are concerned that oversharing may pose safety and privacy risks for their children."
Clark and colleagues found that parents found social media useful as a way of getting advice from more experienced parents. Almost 70% of the parents in the study said they used social media in this way.
In particular, the following were popular topics the parents taking part in the poll reported discussing online:
  • Getting kids to sleep (28%)
  • Nutrition and eating tips (26%)
  • Discipline (19%)
  • Daycare/preschool (17%)
  • Behavior problems (13%).

Social media helps parents to 'feel less alone'

Nearly three quarters of parents said social media helped them to feel less alone. But although 62% of parents said this use of social media for parenting advice helped them to worry less, nearly two thirds of parents reported being concerned that strangers would learn private information about their child or share photos of them.
Three quarters of parents said they knew parents who "over shared" - behavior which can include posting inappropriate photos, making information public on their child's identity and location or simply posting embarrassing content.
More than half of the parents were worried that their child might be embarrassed by what was being shared when they get older. Indeed, just a few months into their new found fame, the mother of the "Charlie bit me" boys told British newspaper The Telegraph that they were already embarrassed by the attention they were receiving.
"These networks bring parents together in ways that weren't possible before, allowing them to commiserate, trade tips and advice, share pride for milestones and reassure one another that they're not alone," Clark says.
And yet the potential remains for "sharing" and "over sharing" to become easily blurred, Clark acknowledges:
"Parents may share information that their child finds embarrassing or too personal when they're older but once it's out there, it's hard to undo. The child won't have much control over where it ends up or who sees it."
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Loneliness and social isolation linked to early mortality

There are a number of health and lifestyle factors - obesity, smoking, air pollution - that are known to be risk factors for early mortality and receive considerable attention. New research has suggested that social connections should be added to this list, with a study finding loneliness and social isolation to be risk factors for all ages.

A woman alone in a theater.
The researchers suggest that the more positive psychology that individuals have, the better they can function, both emotionally and physically.
Psychologists from Brigham Young University in Provo, UT, discovered in a meta-analysis that loneliness and social isolation better predicted premature death among populations aged less than 65 years, despite older people being more likely to be lonely and having a higher mortality risk overall.
"The effect of this is comparable to obesity, something that public health takes very seriously," says lead author Julianne Holt-Lunstad. "We need to start taking our social relationships more seriously."
Previous research has demonstrated that social connections can have a positive influence on physical well-being as well as psychological and emotional well-being. Until now, no meta-analysis had been conducted where the effect of social isolation and loneliness on mortality has been the focus.
Although the two terms sound similar, loneliness and social isolation can be very different in appearance. An individual who is surrounded by lots of other people can still feel lonely while some people prefer to be alone and foster isolation from others.
Despite these differences, however, the study found that the effects on premature mortality were the same for both loneliness and social isolation.

Researchers predict a 'loneliness epidemic' in the future

For the study, the researchers analyzed data from 70 studies conducted between 1980 and 2014, featuring a total of over 3 million participants. The data included information regarding loneliness, social isolation and living alone.
After controlling for variables such as age, gender, socioeconomic status and pre-existing health conditions, the researchers found that social isolation was linked to an increased risk of premature mortality. Conversely, the presence of social relationships was found to have a positive influence on health.
The study did, however, utilize data from a narrow range of ages, with the majority of the data coming from older adults. The authors acknowledge that less than a quarter of the studies analyzed involved people with an average age of 59 or younger, and only 9% of studies involved participants younger than 50 at intake.
The researchers state that the effects on physical health caused by loneliness and social isolation are comparable to those caused by obesity, with current evidence indicating "that heightened risk for mortality from a lack of social relationships is greater than that from obesity." They write:
"The current status of research on the risks of loneliness and social isolation is similar to that of research on obesity 3 decades ago - although further research on causal pathways is needed, researchers now know both the level of risk and the social trends suggestive of even greater risk in the future."
Due to advances in technology and the evolution of the Internet, it may seem as though people are closer together than ever before. However, the number of people feeling lonely appears to be on the rise.
"Not only are we at the highest recorded rate of living alone across the entire century, but we're at the highest recorded rates ever on the planet," says co-author Tim Smith. "With loneliness on the rise, we are predicting a possible loneliness epidemic in the future."
Despite the limitations of the study, the authors believe that their findings justify raising a warning about increasing rates of social isolation.
Last year, Medical News Today reported on a study that found extreme loneliness can increase an older person's risk of premature death by 14%.

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New 'MIND' diet linked to reduced risk of Alzheimer's

A new diet developed by researchers from Rush University Medical Center in Chicago, IL, could significantly reduce the risk of Alzheimer's disease, even for those who do not follow it precisely.

A basket of berries
The MIND diet focuses specifically on berries rather than consumption of all fruits. Blueberries and strawberries, in particular, have been hailed for their brain benefits.
This is the finding of a new study published in Alzheimer's & Dementia: The Journal of the Alzheimer's Association.
The diet - called the Mediterranean-DASH Intervention for Neurodegenerative Delay (MIND) diet - was created by nutritional epidemiologist Martha Clare Morris, PhD, and colleagues at Rush. It uses aspects of the DASH (Dietary Approaches to Stop Hypertension) diet - an eating plan based on studies supported by the National Institutes of Health - and the Mediterranean diet.
While both the Mediterranean and DASH diets have been shown to reduce the risk of cardiovascular problems, such as heart attack, stroke and high blood pressure, some studies have suggested the diets may also protect against dementia.
The newly created MIND diet, according to Morris and Colleagues, is easier to follow than the Mediterranean and DASH diets. It consists of 15 dietary components: 10 "brain-healthy food groups" and five unhealthy food groups.
Green leafy vegetables, other vegetables, nuts, berries, beans, whole grains, fish, poultry, olive oil and wine make up the brain-healthy foods, while red meats, butter and stick margarine, cheese, pastries and sweets, and fried or fast food are the food groups that should be limited.
Unlike the DASH and Mediterranean diets - in which high consumption of all fruits is recommended - the MIND diet focuses specifically on berries. Morris explains that blueberries and strawberries, in particular, have been hailed for their brain benefits in past research.

Moderate adherence to MIND diet reduced Alzheimer's risk by 35%

For their study, the researchers analyzed the food intake of 923 Chicago residents between the ages of 58 and 98 who were part of the Rush Memory and Aging Project - an ongoing study that aims to identify factors that may protect cognitive health.
Dietary information was gathered from food frequency questionnaires the participants completed between 2004 and 2013. The researchers scored participants on how closely their food intake matched either the MIND diet, Mediterranean diet or DASH diet, and incidence of Alzheimer's disease was assessed over an average follow-up period of 4.5 years.
Fast facts about Alzheimer's
  • More than 5 million people in the US are living with Alzheimer's, and this number is expected to rise to as many as 16 million by 2050
  • Alzheimer's is the sixth leading cause of death in the US
  • More than two thirds of Americans with Alzheimer's are women.
The researchers found that participants whose food intake closely followed either of the three diets were at lower risk of Alzheimer's. Participants who followed the Mediterranean diet were at 54% lower risk, those who followed the MIND diet were at 53% lower risk, while followers of the DASH diet had a 39% reduced risk for Alzheimer's.
However, the team found that participants who had a moderate adherence to the Mediterranean or DASH diets showed no reduced risk for Alzheimer's, while moderate adherence to the MIND diet still put participants at 35% lower risk of developing the disease.
Morris says one of the most exciting things about their findings is the fact that even following the MIND diet moderately well indicated significant protection against Alzheimer's. "I think that will motivate people," she adds.
However, the researchers note that to really benefit from the MIND diet, followers should not overindulge in unhealthy foods, particularly butter, cheese and fried foods.
On eliminating participants who changed their diet at some point during follow-up, the team found that participants who followed the MIND diet for a longer duration saw the highest protection against Alzheimer's. "As is the case with many health-related habits, including physical exercise," says Morris, "you'll be healthier if you've been doing the right thing for a long time."
While further studies are needed to confirm these findings, the researchers believe the MIND diet shows promise for reducing the risk of Alzheimer's. "We devised a diet and it worked in this Chicago study," Morris adds.
Talking to Medical News Today, Morris said there is no reason why people should wait to try the MIND diet, however. "The dietary components of the MIND diet are also the foundations of the Mediterranean and DASH diets - both of which have been found through randomized controlled trials to have many cardiovascular benefits," she said. "It is hard to come up with a potential downside to adopting these dietary habits."
Last week, MNT reported on a study published in Science Translational Medicine, in which Australian researchers reveal how a new ultrasound technique successfully restored memory in mouse models of Alzheimer's.
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Multiple sclerosis: becoming aware of its invisible difficulties

Multiple sclerosis affects an estimated 2.3 million people worldwide, although chances are if you were to pass somebody with the condition in the street you might not realize they had the condition at all. In fact, they might not realize it themselves. Multiple sclerosis can be as mysterious as it is complex and debilitating.

Internet search for multiple sclerosis.
Defining and diagnosing multiple sclerosis is a notoriously difficult task due to the lack of a single test for the condition.
At present, nobody knows precisely what causes this disease of the central nervous system. Its severity ranges dramatically from relatively benign cases to the devastatingly disabling, bringing partial or complete paralysis to the body.
According to the National Institutes of Health (NIH), somewhere between 250,000 and 350,000 people in the US have been diagnosed with multiple sclerosis (MS). Because the Centers for Disease Control and Prevention (CDC) do not require physicians to report new diagnoses of the disease, the prevalence of MS can only be estimated.
In addition, many symptoms of the condition are invisible. MS is a notoriously difficult disease to diagnose, and so many people must live with their chronic disease untreated until doctors can rule out all other possibilities.
This week is National MS Awareness Week in the US. For this Spotlight feature, we will be taking a look at this complex and elusive condition in an attempt to pin down precisely what makes it such a mysterious and difficult disease to contend with.

What is MS?

MS is a whereby the body's immune system targets its own central nervous system - the brain, spinal cord and optic nerves. At present, the precise target that the immune system attacks - the antigen - is unknown, leading experts to regard MS as "immune-mediated" rather than an "autoimmune" disease.
When MS attacks the central nervous system, a fatty substance that protects the nerve fibers called myelin is damaged, along with the nerve fibers themselves. After becoming damaged, myelin forms scar tissue, in a process known as sclerosis.
The damage to the myelin and nerve fibers leads to the disruption and interruption of electrical signals being transmitted throughout the central nervous system, and it is this effect that MS has on the nerve impulses that produces the symptoms of the disease.
People with MS can experience a wide range of symptoms. The National MS Society (NMSS) emphasize the point that no two people have exactly the same MS symptoms, and each person's symptoms can change or fluctuate over time.
Due to the role the central nervous system has in the body, many areas can be affected by the disease. Common symptoms include fatigue, walking difficulties, vision problems, bladder problems, pain and cognitive changes.
One thing that many of these symptoms have in common is that they can be described as "invisible symptoms." In the video below, Rosalind Kalb, PhD, from the NMSS, discusses the effect of these symptoms and some of the challenges they present:
Due to the presence of invisible symptoms, some people with MS may appear to be much healthier than they are. Others might not be aware of symptoms they are inwardly struggling with, and, therefore, might have unreasonable expectations of the person with MS.
Another element of the disease that alters people's expectations is that MS has several different disease courses that have been identified - ways in which the disease presents itself and develops over time. The NMSS describe the following:
  • Relapsing-remitting (RRMS) - around 85% of people with MS are believed to have this form, characterized by clearly defined flare-ups (relapses) of worsening symptoms, followed by periods of partial or complete recovery (remissions). During remission periods, no disease progression is apparent
  • Secondary-progressive (SPMS) - many people transition to this form of the disease, whereby MS begins to progress more steadily, with or without periods of remission
  • Primary-progressive (PPMS) - around 10% of people are believed to have this form of MS, characterized by neurologic function steadily worsening over time. While there may be temporary improvements from time to time, there are no distinct relapses or remissions
  • Progressive-relapsing (PRMS) - the least common disease course, whereby MS is characterized by steadily worsening neurologic function with occasional relapses occurring from time to time. In PRMS, the disease continues to progress without remissions.
A clear line of communication between individuals and their physicians is vital. Symptoms such as fatigue can also occur as a result of other conditions, such as interrupted sleep due to sleep apnea. People with MS must be wary when a new symptom presents; it is important to discuss symptoms with a health care professional rather than simply attributing it to MS.
The prospect of an MS diagnosis can be a daunting one, and not just because of the symptoms that can potentially be experienced. At present, there is no known cure for MS, although studies often claim to offer hope.

Rewiring the immune system?

In the UK, The Telegraph reported that a "'miracle' stem cell therapy reverses multiple sclerosis." For the study, published inJAMA, doctors used chemotherapy to "knock out" parts of the immune system that were not working properly and then rebuild them using stem cells from the patient's blood.
Stem cells.
Could stem cells be used to "reboot" the immune system of people with MS?
The article reporting on the study describes wheelchair-bound patients able to walk again and blind patients having their vision restored. These are dream results for many MS patients. However, the British National Health Service (NHS) were swift to put the story in perspective.
Although improvements were made in the levels of disability experienced by almost 64% of the study participants, the study was limited by only focusing on one form of MS - RRMS - and by not including a control group in the investigation. As a result, the researchers cannot be certain that these improvements are attributable to the treatment.
"These preliminary findings from this uncontrolled study require randomized trials," the authors of the study write, in acknowledgment of the study's limitations.
"It's also worth noting that not everyone will be able to tolerate the aggressive chemotherapy used," add the NHS on their Choices website, "and that the technique did not work for people with more severe or longstanding MS (over 10 years)."
This example serves to illustrate that there is still a great deal of work that needs to be carried out before patients can look forward to definitive treatment for this chronic illness. The presence of different courses of MS also means that levels of treatment available vary depending on what form of MS a person has.
Dr. Annette Langer-Gould, a research scientist and neurologist at Kaiser Permanente in Pasadena, CA, described to Medical News Today the current situation regarding MS treatment in the US:
"We have highly effective immunomodulatory treatments for relapsing, nonprogressive MS, somewhat effective treatments for relapsing progressive MS, but, unfortunately, progressive, nonrelapsing MS is a neurodegenerative process more similar to Alzheimer's disease and Parkinson's disease than to relapsing forms of MS."
For patients with progressive MS that does not relapse, the focus is a proactive management of symptoms to maximize function and quality of life. "This takes more time and energy on the part of the physician and patient, and a multidisciplinary approach often with the help of a social worker, primary care physician, physical and occupational therapy and urology," she explained.

Further complexity

Dr. Langer-Gould also drew MNT's attention to the categorization of the disease courses of MS. In contrast to the four defined courses described by the NMSS, Dr. Langer-Gould said that newer terms were being used:
"The subtypes of MS are relapsing, nonprogressive MS, relapsing progressive MS and progressive, nonrelapsing MS. The older terms - primary or secondary progressive MS, chronic progressive MS - are terms that are no longer being used because they confuse general neurologists and patients and don't really help guide care."
Black woman and white woman facing each other.
While experts have previously accepted that MS is more prevalent among white people than black people, a recent study has refuted this claim.
MS is a disease that appears to be constantly redefined the more that researchers and experts find out about it. The way in which the disease is dealt with has changed greatly in a short period, and as more is discovered, we can expect the way MS is treated and discussed to continue changing.
A study from Kaiser Permanente examining the electronic health records of over 3.5 million members in Southern California suggested that MS is more common in black women than in white women. These findings directly contrast with what had previously been established: that black people were less susceptible to the disease.
Conflicting findings arising from studies such as this demonstrate the level of mystery that surrounds MS. Experts believe that the development of MS is influenced by environmental factors, exposure to infectious microbes and genetic factors, but as yet they have not been able to pin the disease down precisely.
Such uncertainty is also present in the diagnosis of MS. As symptoms of the disease can vary so greatly, it can take a considerable amount of time before a patient is successfully diagnosed.
"Recognizing patients who are at high risk of early disability (or imminent risk of disability) and getting these individuals on the optimal treatment plan is the biggest challenge general neurologists face today," suggested Dr. Langer-Gould.
As new forms of treatment for the management of MS symptoms have been discovered, the need for quick diagnosis has changed. When there was no effective treatment for highly aggressive MS, being able to identify people with this form of the disease was less critical.
"Now we are lucky that we do have such highly effective medications (natalizumab and fingolimod and in some instances rituximab as well), but timely identification of the individuals who need these treatments remains a critical barrier," Dr. Langer-Gould explained.

Invisible symptoms, invisible disease?

Unfortunately, such treatments do not come cheap in the US. "The other big challenge for many Americans with MS is the astronomical rise in prices of the MS medications, including treatments that are not particularly effective," Dr. Langer-Gould told us. "For many people their co-pay is far more than they can afford."
She suggests that action needs to be taken, with patient advocacy groups working alongside Congress in order to help bring affordable medications to the market while simultaneously controlling the rising costs of medication.
Another aspect of MS that the government could help with is tracking the disease on an epidemiological level. As mentioned earlier in this article, physicians are not required to report to a central database whenever a new diagnosis is made.
A lack of reporting in combination with difficulties in diagnosis and classifying cases of MS - there is no standard method for testing or identifying the disease - means that all epidemiological numbers are estimated and contributes to the lack of certainty surrounding the disease.
Keeping a centralized record of the number of MS cases in some way would certainly help scientists attempting to track the incidence and prevalence of the disease, and could contribute toward helping determine what causes MS.
MS is one of the most complex diseases that an individual can experience. Due to this fact, it is important that awareness of the condition is raised. For more information, take a look at the NMSS information on what can be done to raise awareness or the MNT Knowledge Center page about the condition.
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