All Ashkenazi Jewish Women Should be Tested for BRCA

A woman receives a mammogram. Image credit: National Cancer Institute / Wikimedia

A woman receives a mammogram. Image credit: National Cancer Institute / Wikimedia

Mutations in two genes called BRCA1 and BRCA2 greatly increase the risk of breast and ovarian cancer. Last year I wrote about Angelina Jolie’s discovery that she carries a harmful BRCA1 mutation and her decision to have preventive double mastectomy.

In the general population mutations in these genes are quite rare, but among Ashkenazi Jews these mutations are much more prevalent. One in 40 Ashkenazi Jews carries a mutation in BRCA1 or BRCA2. In the Ashkenazi population one in 9 cases of breast cancer and 2 in 5 cases of ovarian cancer involve mutations in a BRCA gene.

Identifying women with BRCA mutations who are at high risk of breast and ovarian cancer isn’t just an exercise in predicting trouble. Preventive action can be taken. As Angelina Jolie’s story teaches us, preventive surgery that removes the breasts and ovaries greatly decreases the risk. Mastectomy, of course, is difficult physically and psychologically. For some women at very high risk, intensive screening with mammograms and breast MRI offers some level of protection without resorting to surgery.

Thus far genetic testing for these mutations has only been recommended for Ashkenazi women with a strong family history of breast or ovarian cancer. That’s because BRCA mutation carriers with a family history of breast or ovarian cancer were the only group studied and found to have increased cancer risk.

But if the BRCA mutations themselves cause breast and ovarian cancer, why should family history matter? Why not test everyone who might have these mutations? The answer is that the risk of cancer in BRCA mutation carriers without a family history of cancer has never been measured. Without knowing that, it is possible that the mutation carriers who have a family history of cancer have an increased risk because of some other shared genes that have yet to be identified or because of some shared exposure to cancer-causing agents in the environment. That is, without knowing the risk of BRCA mutation carriers who do not have a family history of cancer, we can’t be sure if the BRCA mutations are the cause of increased risk, or simply a marker for some other cause that is yet unknown.

A study carried out in Israel and published this month in the Proceedings of the National Academy of Sciences sought to answer this question in an ingenious way. The study enrolled about 8,000 Israeli Ashkenazi men without a history of cancer and tested them for BRCA mutations. 175 of them were found to carry harmful BRCA mutations. The first degree female relatives of these 175 men (their mothers, sisters and daughters) were invited to undergo BRCA testing. This identified 211 female BRCA mutation carriers, many of whom had no family history of breast cancer. By studying the medical histories of the identified female mutation carriers, their risk of ovarian and breast cancer was calculated.

The results showed that a woman with a BRCA1 mutation has an 83% risk of developing breast or ovarian cancer by age 80. BRCA2 mutation carriers have a 76% risk of breast or ovarian cancer by age 80. These numbers are very similar to those from studies that only counted women with strong family histories of cancer. That means that a family history is not necessary to identify women who benefit from screening, and suggests that all Ashkenazi Jewish women should be tested for BRCA mutations.

National groups that evaluate scientific data and make testing recommendations like the American Cancer Society and the US Preventive Services Task Force haven’t had a chance to digest the news yet. They still recommend BRCA testing only for women with strong family histories of breast and ovarian cancer.

A medical geneticist I spoke with said that BRCA testing costs about $400 and is generally not covered by insurance. If you’d like to pursue testing, the first step is asking your doctor to refer you to a medical geneticist for pre-testing counseling.

Population screening for specific genetic diseases, like Tay-Sachs, has proven in the past to make enormous reductions in the societal burden of disease. Screening all Ashkenazi Jewish women for BRCA holds out the promise of similar gains against breast and ovarian cancer.

Learn more:

Study of Jewish Women Shows Link to Cancer Without Family History (New York Times)
Israeli research team: Screen all Ashkenazi-Jewish women for BRCA mutations (The Jerusalem Post)
Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2 (Proceedings of the National Academy of Sciences, abstract free, full article by subscription)
Understanding Angelina (My post from 2013 explaining the BRCA testing recommendations at that time)

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Posted in Cancer, New Study, Prevention | Comments Off

A Comparison of Low Carb and Low Fat Diets

Image credit: Wikimedia commons, public domainThe joys of September! Parents gleefully shove their reluctant children onto school buses, the palm trees in Los Angeles don’t change color, and everyone realizes that they gained 20 pounds during their summer vacation. It’s time to get serious again about losing weight.

But how should you eat to best help you shed the extra pounds? Many people are passionate about their favorite diet, but there is very little data comparing different diets to each other. Some swear by low carbohydrate diets (like Atkins), while others insist that low fat diets (like Weight Watchers and others) yield more weight loss and achieve healthier cholesterol numbers.

This week, a study published in Annals of Internal Medicine attempted to shed some light on this question. The study enrolled 148 men and women who were obese (BMI 30 to 45) but didn’t have diabetes or cardiovascular disease. The participants were randomized into two groups. One group was counseled to eat a low carbohydrate diet, with less than 40 grams of carbohydrates per day. The second group was counseled to eat a low fat diet, with less than 30% of total calories from fat, and less than 7% from saturated fat. Neither group was counseled about limiting total calories or about exercise. Both groups received ongoing periodic dietary counseling throughout the study.

The subjects were followed for a year and had periodic assessments of their weight, diet, cholesterol, blood pressure, and other blood tests measuring cardiovascular risks.

At the end of the study the group eating a low fat diet lost an average of 4 lbs. while the group eating a low carbohydrate diet lost an average of 12 lbs. Even more impressive was that the low-fat group lost lean body mass (muscle weight) and gained fat weight, while the low-carbohydrate group lost fat weight and gained muscle. This is especially surprising since average caloric intake and physical activity was similar between groups. One frequent criticism of low carbohydrate diets – that it results in an increase of LDL (bad cholesterol) – was dispelled. Total cholesterol and LDL levels remained similar between groups, but the low-carbohydrate group had bigger increases of HDL (good cholesterol).

This all suggests that a low carbohydrate diet leads to more weight loss than a low fat diet while improving body fat composition and some cholesterol measures. For those who are losing weight on a low carbohydrate diet but were worried that the excess fat intake was increasing their cardiovascular risk, this is good news.

Though the results were trumpeted as a major vindication for low carbohydrate diets, I interpret the results differently. Sure, the low carbohydrate group fared better than the low fat group, but what I find striking is how disappointingly modest the results in both groups were. The participants had a BMI of 30 to 45 which means that at minimum they were 35 lbs. overweight, some much more. An average weight loss of 12 lbs. is a laudable step in the right direction but is a small fraction of the weight that should be lost. Considering the fact that this weight loss took 12 months and that all longer term studies suggest that some of this lost weight will be regained, the results seem quite discouraging.

So I conclude from this study that any diet that helps you eat less and that you can maintain indefinitely will help you lose weight but that for meaningful weight loss you have to make a more radical change in your diet than the groups in this week’s study. If you feel full and not deprived on a low carbohydrate diet, then do it and stick to it. But you should probably have even less carbohydrates than 40 gm per day until you reach your target weight. This study at least reassures you that your cholesterol and body fat composition won’t get worse. If you do best with a low fat diet, consider a diet that is radically low in fat, like a plant-based vegan diet without processed foods. My patients who have stuck with either strategy have done well. This study is also a reminder that without exercise, changing what you eat will only achieve modest results. Frequent exercise can accelerate weight loss while maintaining muscle mass.

And for people who are over 100 lbs. overweight, especially those with diabetes, studies increasingly suggest that weight loss surgery has healthier outcomes than diet and exercise alone.

So let’s all make a plan and get started. Thanksgiving is just around the corner.

Learn more:

A Call for a Low-Carb Diet That Embraces Fat (New York Times)
Cutting Back On Carbs, Not Fat, May Lead To More Weight Loss (NPR)
Effects of Low-Carbohydrate and Low-Fat Diets: A Randomized Trial (Annals of Internal Medicine)

Some of my past posts on diet and weight loss:

Why Losing Weight Is So Hard
Startling Scientific Finding: Dieting Leads to Weight Loss
Scientifically Proven Weight Loss Method: Eat Less

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Posted in Exercise, New Study, Weight Loss | Comments Off

Raining on the Ice Bucket Parade

Raising awareness, lowering temperature.

Photo credit: flickr/slgckgc Creative Commons License

Amyotrophic lateral sclerosis (ALS, sometimes called Lou Gehrig’s disease) is a truly horrible illness. It is a progressive fatal neurodegenerative disorder that leads to worsening muscle weakness.

Weakness in the limbs initially makes handwriting sloppy and makes it hard to button clothes and eventually causes paralysis. Patients also develop weakness in the muscles that control swallowing and speech, eventually requiring them to use feeding tubes and computer text-to-speech software. Eventually the muscles that control breathing are affected. Half of ALS patients die within 3 years from the time that weakness is first noticed, and only about 5% survive more than 10 years. About 5,600 people are diagnosed with ALS in the US every year, so about 18,000 Americans are living with ALS at any time.

In a small fraction of patients the disease is familial. In most patients the cause is unknown. The only effective treatment so far is riluzole, a medication that prolongs survival by only several months. Besides the catastrophic consequences to the patient, ALS frequently places overwhelming pragmatic and psychological burdens on family members and caregivers. If I had ALS I would gladly trade it for colon cancer or lung cancer, but patients don’t get to choose.

Unless you live in a cave in Waziristan or get all of your news from this newsletter (which would be a lot of pressure for me) you’ve already seen myriad well-meaning folks douse themselves in ice water to raise money for the ALS Association (ASLA). The ice bucket challenge is the perfect social contagion – entertaining to watch, supportive of a good cause, and using peer pressure to infect others. Since late July the ASLA has raised over $70 million – about three times what it made last year – and there’s no sign that the donations are slowing down any time soon.

There are so many positive aspects of this phenomenon. First of all, it’s voluntary (as opposed to, say, the government taking your money to fund obesity awareness while also taking your money to subsidize sugar). It’s fun. And it’s a rare example of peer-pressure used for a good cause. Usually when tens of thousands of people convince each other to do the same thing, it’s moronic if not outright destructive. This will also inspire many other charities to use viral social media fund-raising campaigns. And did I mention that ALS is a really dreadful disease?

Still, my regular readers know that I’m here to be your skeptical stick-in-the-mud, to give the cold facts an impartial look, and to pick nits. Some writers have raised very reasonable objections to the ice bucket challenge. One objection is that given how rare ALS is, we really should be spending our money elsewhere. The linked article has a graphic showing different diseases listed both by the number of deaths they cause and the amount of funds donated to combat them. Compared in terms of dollars donated per death caused, ALS was already far ahead of much more common killers like diabetes and heart disease.

Another objection is that ALSA is a research organization. So the money will be used to unravel the complex genetic and molecular mechanisms behind the disease and search for new treatments, an effort that is unlikely to yield results for many years. In the long term, that investment might yield priceless results, but it won’t help today’s patients or their families, some of whom could use financial help to buy the motorized scooters, computerized speech aides, and other technology that ALS patients need. The current amount raised could give more than $3,000 of aid to each patient living with ALS.

Of course, some of the criticisms are foolish. Some celebrities have refused to participate on the grounds that ALSA funds research on animals. I’m not aware of any diseases that have been cured without animal research. Fortunately, not too many people listen to these beautiful ignoramuses. Research scientists should sneak up on them and dump ice water on their heads.

But the best criticism of the ice bucket challenge is that it’s a terrible reason to donate, and it’s a terrible way to think of your philanthropic spending. Your dollars achieve the most benefit when you pick a charity that can make the biggest difference for the most number of patients, and when you give repeatedly over time, not just a one-time gift when everyone else is giving too.

So whether you give to ALSA or not, pick a disease to attack with your dollars, make a recurrent annual event on your calendar, and commit to an annual donation. (My wife and I give to the Juvenile Diabetes Research Foundation, largely because my nephew has type 1 diabetes. 30,000 people in the US are diagnosed with type 1 diabetes annually, and about 3 million Americans are currently living with it.) Let other people soak themselves with ice water. And in five years when the American Heart Association comes up with the live-chicken-in-your-pants challenge you can ignore it and continue the rational charitable giving you’ve already started.

Learn more:

Why the Ice Bucket Challenge is bad for you (Maclean’s)
The truth about the Ice Bucket Challenge: Viral memes shouldn’t dictate our charitable giving (Vox)
The Ice Bucket Challenge Isn’t Going Away, But giving money to disease-specific charities is still a bad idea (Slate)
A different #icebucketchallenge: How will the ALS Association spend all that money? (Fortune)
ALS Association (Learn more about ALS, donate)
Amyotrophic Lateral Sclerosis (Medscape review, written for health professionals)

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Suicide Contagion in the Age of Social Media

Robin Williams in 2004. Photo credit: Darsie / Wikimedia

Robin Williams in 2004.
Photo credit: Darsie / Wikimedia

In every life we have some trouble
When you worry you make it double
Don’t worry. Be happy.

It will soon pass, whatever it is.
Don’t worry. Be happy.
– Bobby McFerrin

Much has already been written in reaction to Robin Williams’s untimely death, about his incandescent talent, his prolific career, his decency and kindness, his addiction and his mental illness. His death robbed his fans of many more years of his genius and, of course, inflicted permanent grief on his loved ones.

In Johann Goethe’s 1774 novel The Sorrows of Young Werther the protagonist shoots and kills himself after the woman he loves marries another man. The novel became very popular. In the following years many young men in Europe committed suicide by dressing precisely as Werther is described in the novel and shooting themselves. The concept of suicide contagion was first described at that time, the idea that the romantic or idealized description of a suicide could trigger suicide in a susceptible person.

In the 1980s the media in Vienna was abuzz with extensive and dramatic coverage of the deaths of people who jumped in front of subway trains. In 1987 an educational campaign alerted reporters to the possible phenomenon of suicide contagion. The reporters were asked to use more neutral, less dramatic language, and to focus more on the victims’ lives rather than on the details of their deaths. In the subsequent six months, subway suicides and non-fatal suicide attempts dropped by more than 80%, and the total number of suicides in Vienna also decreased.

No one suggests that these stories cause suicide in mentally healthy readers. The victims of suicide contagion are clearly depressed and may already be suicidal. The theory is that stories that make suicide seem very prevalent, heroic or romantic give permission to suicidal readers to act on their impulse.

The magnitude and specific mechanism for this effect is, of course, difficult to study. Randomized studies obviously can’t be done, and some researchers argue that the evidence for suicide contagion is overblown. Nevertheless, mental health professionals and public health officials have compiled recommendations for journalists covering stories of suicide, especially of celebrities. The press has largely followed these recommendations.

Enter social media. The wonderful thing about social media is that it allows anyone to broadcast their ideas to countless others. That’s also the terrible thing about social media. Social media has reminded us of all the negative consequences of free speech, from false rumors, to hate speech, to cyberbullying (most recently of Robin Williams’s daughter). And because the public hasn’t been educated to consider suicide contagion, we inadvertently spread potentially dangerous messages.

A tweet about Williams’s death that I’m sure was well-intentioned and seems sympathetic and sweet, nevertheless would never have made it past a professional reporter or editor writing about suicide. That’s because it makes suicide seem like a poignant escape, a freeing act, an option. The tweet has been retweeted hundreds of thousands of times and likely seen by millions.

What can be done about it? If the public is going to take up broadcasting then we’ll have to try educating the public about the responsibilities of broadcasting. In the meantime I hope that susceptible individuals will shield themselves from triggering messages and get the help they need. I have to imagine that Mr. Williams would have wanted that too.

Get help:

National Suicide Prevention Lifeline

Learn more:

What happens when a suicide is highly publicized in the wrong way: The suicide contagion effect (Washington Post)
The Science Behind Suicide Contagion (New York Times)
Suicide contagion and social media: The dangers of sharing ‘Genie, you’re free’ (Washington Post)
Recommendations for Reporting on Suicide
Cyberbullying pushes Zelda Williams to leave social media (Colorado 9 News)
Suicide Rate Among Baby Boomers Increases Sharply (My post in 2013)
Don’t Worry Be Happy (the video to Bobby McFerrin’s song featuring Robin Williams)

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Largest Ebola Outbreak in History Continues to Spread

Doctors without Borders staff carry body of a patient killed by Ebola in Guinea. AFP/Getty Images

Doctors without Borders staff carry body of a patient killed by Ebola in Guinea.
AFP/Getty Images

Given the myriad horrors happening around the world this week you could be excused if West Africa has fallen off of your radar, but from a health perspective, it deserves some attention.

I wrote in April about an Ebola outbreak in southeastern Guinea that had spread to Liberia and Sierra Leone. (Browse that first post for a history of Ebola, its symptoms, and how it’s transmitted.) By April the outbreak had already become the most geographically widespread Ebola outbreak in history, and the first in West Africa. By that time it had reached the capital of Guinea and had infected over 130 people and killed 88.

As of now, the outbreak remains to be contained, and by any measure is now the worst outbreak ever. Over 1,000 have been infected, causing over 600 deaths. The outbreak has also reached the capital of Sierra Leone. Most worrisome is that new cases are still developing, with 67 new cases reported from July 15 to 17.

Emblematic of the struggles that local health officials have faced in containing this infection is the news that the lead physician treating Ebola patients in Sierra Leone has himself become infected. At least eight nurses in the same hospital have also contracted Ebola. This large number of infected healthcare workers hints at poor adherence to infection prevention guidelines or perhaps a simple lack of isolation supplies such as gloves and masks.

Officials are also battling public mistrust and false rumors about the cause and transmission of Ebola. Many locals also adhere to traditional funeral rites that involve contact with the deceased, increasing the likelihood of infection. A patient in the capital of Sierra Leone was forcibly removed from the hospital by her family and remains unaccounted for. Most recently, a possible Ebola case surfaced in Nigeria. If confirmed this would add a fourth country to this outbreak’s toll.

The World Health Organization’s recent update on the outbreak was quite frank about the shortcomings of the current efforts. It criticized

“low coverage of contact tracing; persisting denial and resistance in the community; weak data management; inadequate infection prevention and control practices, especially in peripheral health facilities; and weak leadership and coordination at sub-national levels.”

My last post worried about an Ebola patient getting off a plane in a large European or American city. I no longer have that concern. I think a country with an advanced healthcare system and an informed and cooperative public would quickly extinguish an Ebola outbreak. But the ensuing panic in which every fever is a potential Ebola case would cause much disruption.

I know you share my hope that the health workers toiling in West Africa gain the upper hand and contain this outbreak soon. Then we could go back to only worrying about all the other horrors in the world.

Learn more:

Worst Ebola outbreak ever gets worse: top Ebola doctor now infected (Vox)
A Doctor Leading The Fight Against Ebola Has Caught The Virus (NPR)
Ebola virus disease, West Africa – update (World Health Organization Global Alert and Response)
First Ebola victim in Sierra Leone capital on the run (Chicago Tribune)
Ebola Outbreak in West Africa Worries Health Officials (My post in April about the current outbreak)

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A Small Step Towards An Artificial Pancreas

Schematic of the bionic pancreas Image credit: Boston University Dept. of Biomedical Engineering / NEJM

Schematic of the bionic pancreas
Image credit: Boston University Dept. of Biomedical Engineering / NEJM

Patients with type 1 diabetes (T1D) are forced to spend much of their time obsessing about their blood sugar and insulin doses. The state of the art in treatment of T1D is an insulin pump that delivers insulin and a continuous glucose monitor that displays the glucose level and sounds alarms for values that are too low or too high. (See here for a refresher on the differences between type 1 and type 2 diabetes.)

Currently, patients have to evaluate the readings of the glucose monitor, calculate the appropriate doses of insulin for every meal, make mental adjustments for exercise, physical or emotional stress, or acute illness, and enter the appropriate dose into the insulin pump. This is a very inexact art. Too much insulin leads to low blood sugars which can be life threatening. Too little insulin keeps blood sugars too high which will result in complications decades later.

In people without diabetes, the pancreas regulates blood sugar levels automatically by regulating the release of two hormones, insulin which lowers blood sugar, and glucagon which increases it. I have the luxury of eating, exercising, and suffering from the flu without ever thinking about my blood glucose. My nephew Elliott, who has T1D, would be threatening his life if he did that.

A study published this week in the New England Journal of Medicine (NEJM) brings patients with T1D a small step closer to living like the rest of us. The study tested a very preliminary attempt at an artificial pancreas in 52 adolescents and adults over a 5 day period. This bionic pancreas, as the researchers call it, consists of a continuous glucose monitor that is attached to a smart phone. The smart phone runs software that receives the glucose information from the glucose monitor and calculates the amounts of insulin and glucagon that should be delivered. The software connects via Bluetooth to two hormone pumps that deliver hormones through tubes inserted under the skin, one for insulin, and one for glucagon. The patient can interact with the software to announce that he’s about to have a meal or a snack. The software does the rest.

The study showed that the patients’ blood sugar was better controlled when they were using the bionic pancreas than during five days when they were managing their sugars themselves. Importantly, the bionic pancreas did not result in more episodes of seriously low blood sugars. And the difference in quality of life promises to be huge – no more careful counting of every carbohydrate ingested, no more calculating the appropriate insulin dose, no more obsessing about how much to compensate for 30 minutes of bike riding.

This study was small and preliminary. An artificial pancreas isn’t going to be mass marketed tomorrow. Lots of improvements still need to be made, and the entire unit needs to be consolidated into one box so that it doesn’t depend on a finicky Bluetooth connection. And then it needs to be tested on thousands of patients.

We now have machines and prostheses that do a reasonable job of replacing broken kidneys and cochleas and hip joints. This week brings promise that we are approaching a day when we’ll be able to do the same for broken pancreases.

Learn more:

Advances Made in Regulating Type 1 Diabetes (Wall Street Journal)
Father Devises A ‘Bionic Pancreas’ To Help Son With Diabetes (NPR Shots)
Bionic pancreas helps control diabetes, study says (USA Today)
A diabetic child spurs a race for a bionic pancreas (Bostonia)
ENG Prof’s Bionic Pancreas Takes a Big Step Forward (Boston University Biomedical Engineering News)
Outpatient Glycemic Control with a Bionic Pancreas in Type 1 Diabetes (NEJM)

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Eating Breakfast Neither Helps nor Hinders Weight Loss

Breakfast, entirely optional for weight loss Photo credit: Alisdair McDiarmid via Flickr, Creative Commons license

Breakfast, entirely optional for weight loss
Photo credit: Alisdair McDiarmid via Flickr, Creative Commons license

It’s nearly impossible for us not to believe that what we eat has a profound effect on our health. But what we know about the link between food and health is much less than what we believe. A study published this week provides a perfect example.

An overweight person trying to lose weight is likely to hear advice about the importance of eating breakfast. We have some reasons to guess that skipping breakfast might hamper weight loss efforts. Skipping breakfast should increase hunger which might cause overeating at lunch. Hunger can also trigger hormonal changes that make weight loss more difficult. There have even been some observational studies showing that people who eat breakfast are thinner than those who don’t. (See here for a quick primer on the difference between an observational study and a randomized study and why observational studies should be largely ignored.)

Of course in the past we had very good reasons to guess that heavier objects fall faster than lighter objects, that light travels faster going west than north, and that estrogen prevents heart attacks. These guesses were all proven false as soon as someone actually tested them.

In the study published this week, investigators enrolled about 300 overweight and obese adults and randomized them to three groups. One group in addition to receiving general weight loss advice was instructed to eat breakfast every day. The second group was instructed to skip breakfast every day. The third group received general nutrition advice that didn’t mention any advice about breakfast.

The groups were quite compliant with following their instructions. The group that was supposed to skip breakfast almost always did so, and the group that was supposed to eat breakfast almost always did so. The three groups lost equal amounts of weight. The senior investigator of the study, David Allison, summed it up well. “The field of obesity and weight loss is full of commonly held beliefs that have not been subjected to rigorous testing.”

There’s nothing wrong with educated guesses. They’re the seeds of discovery. But without testing we shouldn’t forget that they are not knowledge. We mistakenly keep guesses around for decades, grow comfortable with them, and forget that they’re untested. It seems that the field of nutrition is especially littered with these long-held assumptions. (The myth of the harms of saturated fats is another recent example.) I’m delighted that Dr. Allison is committed to either confirming or discarding them. I hope he gets some help.

Learn more:

Skipping Breakfast May Not Be Bad For Weight Loss After All (Forbes)
Eating breakfast may not matter for weight loss (CNN Health blog)
Passing on Breakfast OK for Weight Loss (Medpage Today)
The effectiveness of breakfast recommendations on weight loss: a randomized controlled trial (The American Journal of Clinical Nutrition)

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The Anti-Medication Bias


Photo credit: RayNata, Creative Commons license

[The patient interactions in this post are amalgams of hundreds of patient encounters over my career. They are not accurate depictions of any encounter with any single patient.]

“I don’t like taking medicines.”

All physicians hear some form of this opinion very frequently. Even more frequently, patients don’t state this view outright but rely on it to completely subvert their doctor’s plans.

When I was new to practice such an utterance would shock and confuse me.

“I don’t want to take any medicines,” a patient would declare.

“That’s fine,” I would reassure my interlocutor. “It’s a free country. No one is going to force you to take medicines. But you should know that I’m a primary care doctor. I don’t do surgeries or procedures. I diagnose and treat medical problems, usually with medications. I’m not saying you have to change your opinion. I’m just saying you might be in the wrong place. You’re like the vegan bursting into the butcher shop to declare that you don’t want to buy meat.”

I’ve heard some version of this aversion to medications hundreds of times. Over the years I’ve also realized that it is usually adopted by patients without any serious reflection.

“I’d like to be on the fewest medications as possible,” a patient with diabetes, heart disease, high cholesterol, and high blood pressure would announce.

“Well, the fewest medications you can take is zero. Should we just stop them all?”

Lots of patients adopt this anti-medication preference in the absence of any evidence or serious thought. A strong preference without analysis or evidence is simply a bias. (When I have a strong preference in the absence of evidence, it’s a philosophy; when other people have it, it’s a bias.)

Now, some biases are harmless. I like Folgers instant coffee (black), and you like vanilla Frappuccino. I bicycle; you jog. That’s all great. But if a bias threatens to worsen your health, it deserves a little attention. Some thinking might be useful to either confirm it as a belief you want to live by, or discard it to the cognitive ash heap.

The problem with the anti-medication bias is that most doctors are too busy to argue with you. Let’s say your cholesterol is extremely high. Your doctor might recommend attempts at exercise and weight loss for a few months. After that if your cholesterol is unimproved she may recommend a cholesterol-lowering medication. She may or may not have time to mention that this medication has been proven to prevent strokes and heart attacks in patients with high cholesterol. She might or might not mention the rare and usually tolerable side effects you might expect. But if all she hears from you is “I’m already taking too many medicines,” she may do the expedient thing, which is to document your refusal to take cholesterol medicine and leave it at that. If you’re lucky, she’ll readdress this again in more detail in a future visit. If you’re unlucky the future visit will be when she sees you in the emergency department during a heart attack.

Because I have more time to spend with each patient than most doctors, I have a lot of experience in trying to understand and overcome this anti-medication bias. I certainly don’t advocate compensating with the opposite bias – taking as many medications as possible. (A small number of patients do seem to believe that there is a pill for everything that ails them. That’s a subject for a different post.) My suggestion instead is that each medication be judged on the basis of its own benefits and harms. You don’t want to minimize the medicines that you take; you want to benefit from all the medicines whose benefits to you exceed the harms.

Now, don’t get me wrong. There are certainly good reasons not take a medication. You might develop a side-effect. Discuss that with your doctor. Some side-effects diminish with time. Some are annoying but not dangerous. But obviously some are intolerable and might be a good reason to stop taking a medication. So by all means balance the risks, the expense, and the side effects of medications against their benefits, but don’t make a decision before even doing the calculation.

Of course balancing these issues takes time and thought. It requires that the patient be willing to ask important questions (“What side effects should I expect?”) and express any apprehensions. It requires that the doctor answer the questions and make sure the patient understands why the medication is being recommended. That is more difficult and less efficient than writing a prescription and bolting to the next patient.

So please help me eradicate the anti-medication bias. Your health might improve, and you’ll save your doctor a headache or two. Which reminds me, I need some ibuprofen.

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Nearing a Cure for Hepatitis C

The Hepatitis C virus is what scientists call very small. Here is an electron micrograph of one. The scale bar is 50 nanometers. Photo credit: Wikimedia/Rockefeller University

The Hepatitis C virus is what scientists call very small. Here is an electron micrograph of one.
The scale bar is 50 nanometers. Photo credit: Wikimedia/Rockefeller University

In the contest to get a creative name, few pathogens have done worse than hepatitis C. In the 1970s there were two known viruses that caused hepatitis – liver inflammation. You might have already guessed that these two viruses were called hepatitis A and hepatitis B. It was known at that time that people sometimes developed hepatitis after blood transfusions and that the majority of those patients tested negative for hepatitis A and B. A new pathogen was hypothesized and called non-A-non-B hepatitis. It wasn’t until 1989 until the virus was isolated and named [drum-roll please] hepatitis C.

Hepatitis C is transmissible through contact with blood. Before the advent of routine testing of the blood supply it was transmitted through transfusions. It is still transmitted through the sharing of drug and tattoo needles and, in less developed countries, through the reuse of unsterilized medical equipment. Hepatitis C can cause liver failure and liver cancer. There are over 3 million people in the US who are infected with hepatitis C. It is the leading cause of liver transplantation and liver cancer in the US.

There are vaccines against hepatitis A and B, but none yet for hepatitis C.

For decades the standard therapy for hepatitis C has been a regimen including interferon and ribavirin. Interferon has to be given by injection and can have debilitating side effects. A course of treatment lasts 6 to 12 months, and many who begin a course are unable to tolerate it. Fewer than 50% of patients who are treated with this regimen have a meaningful benefit. Because of the length and difficulty of the treatment many hepatitis C patients are thought to be poor candidates and never are offered treatment.

Most of my posts are about a new interesting study, but this post is about a whole crop of studies published in the last two months in the New England Journal of Medicine (NEJM) about the safety and efficacy of novel treatments for hepatitis C. (For links to the individual studies, see the right sidebar of this related NEJM editorial.) Eight recent studies have examined several new medication regimens with truly remarkable results.

The new regimens involve oral medications, so injections are unnecessary. Rather than lasting 6 to 12 months they last 8 to 12 weeks. They are very well tolerated with fairly mild side effects. Best of all, over 90% of the patients appear to have complete clearance of the virus. These results suggest that these medications are no longer in the realm of treating hepatitis C. Instead, for most patients, these medications are a cure for hepatitis C.

Of course, there’s a catch. The medications are astronomically expensive. One of the medications (sofosbuvir) costs $84,000 for a 12 week course. This has caused much consternation and bloviating about pharmaceutical corporate greed. (I’m fascinated by articles that rhapsodically praise the extraordinary medical and scientific breakthrough that these medications represent and a few sentences later vilify the companies that made those breakthroughs possible.)

If we keep our cool and do absolutely nothing, the prices will eventually drop. Competition from newer medications, expiration of patents, and negotiations with insurers will all drive prices down over the next several years. Remember, cell phones and cars were wildly unaffordable when they were new. If we all get angry and insist on making these medicines “affordable” by legislating that insurers cover them, we could make sure that their prices stay astronomic forever.

The exciting news is that within a decade or two we might be able to eradicate hepatitis C. Then maybe we can concentrate our resources on viruses with cooler names, like MERS and Ebola.

Learn more:

New Drug Combination Highly Effective For Hepatitis C (Forbes)
Eradication of hepatitis C on the horizon (The Washington Post)
A Costly Cure for Hepatitis C (The Medical Letter blog)
Therapy for Hepatitis C — The Costs of Success (NEJM editorial, by subscription only)
Therapy of Hepatitis C — Back to the Future (NEJM editorial, free without subscription. The right sidebar has links to all the recent studies of drug trials for hepatitis C.)

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Return of the Spirochete

Treponema pallidum spirochetes

Electron micrograph of Treponema pallidum bacteria
CDC / Dr. David Cox / Public Health Image Library #1977

“Example is the school of mankind, and they will learn at no other.”
– Edmund Burke

Syphilis has been around at least since Europeans arrived in the Western Hemisphere. It’s a sexually transmitted disease caused by Treponema pallidum, a member of a group of corkscrew-shaped bacteria called spirochetes. Sometimes it causes no symptoms at all, but typically it initially causes a painless sore on the mouth or genitals. Later it can cause a rash. Untreated it may lead to blindness, spinal cord and brain damage, and death.

After the discovery of penicillin in the 1940s syphilis was for the first time easily curable and the prevalence of syphilis in the US dropped precipitously.

I trained in the bad-old-days of the mid-90s when HIV was killing tens of thousands of people in the US every year. On every inpatient ward rotation I met patients hospitalized with an opportunistic AIDS-related infection. On every ICU rotation I met patients dying of AIDS. Back then medications to treat HIV were few, new, and only modestly effective. HIV was usually a rapidly fatal disease. It was scary. Counseling patients about condom use and monogamy was not moralistic or theoretical. It had all the practical urgency of yelling at someone to get off the train tracks.

I have no evidence that HIV and the response to it was responsible for the subsequent fall in syphilis infections, but in fact syphilis did decline during the 90s and in 2000 reached its lowest rate ever in the US and was on the verge of being eliminated. You would think that a disease that can be easily diagnosed with blood tests, can be cured with antibiotics, and can be prevented with condoms would be on its way to the dustbin of history. You would be wrong.

This week the Centers of Disease Control and Prevention (CDC) published a review of syphilis trends in the US from 2005 to 2013. The statistics are dismaying. The number of syphilis cases almost doubled during that interval, from 8,724 cases in 2005 to 16,663 in 2013. 91% of the 2013 cases occurred in men. The number of cases in women was about the same in 2013 as in 2005. Of the male cases in 2013, 84% occurred in men who reported having sex with men.

The report breaks down the trends geographically and by ethnicity but it’s the age breakdown that I found fascinating. From 2005 to 2009 men aged 20 to 24 had the greatest percentage increase in syphilis rates, and from 2009 to 2013 men aged 25 to 29 had the greatest increase. But of course those two age categories are actually the same group – men born in the 1980s. I couldn’t help notice that these are the men who grew up after the bad-old-days, the men who think of HIV as the treatable chronic illness it has become, not the death sentence it was 20 years ago.

The CDC report offers wise advice to physicians. We should be testing gay and bisexual men for syphilis at least annually. Men who have multiple partners should be tested more frequently. We should be counseling consistent condom use except in prolonged monogamous relationships in which both partners have been tested.

But perhaps that won’t be enough. I have zero evidence that the attitudes about HIV contributed to the decline of syphilis in 2000 or its resurgence now, but the time course certainly seems to fit. It’s a testament to scientific research and drug development that in such a short time a disease that had the mortality of stage four lung cancer is now more like diabetes. But to young men this progress must make our advice about avoiding sexually transmitted diseases sound a lot less urgent – less like getting off the train tracks and more like putting on their seat belt. That complacency is a terrific opportunity for a patient and ambitious spirochete.

Learn more:

US Syphilis Rate Up; Mostly Gay And Bisexual Men (NPR)
Syphilis Made A Big Comeback In 2013, CDC Warns (Forbes)
CDC Reports Syphilis is Increasing in Homosexual and Bisexual Men (Science World Report)
Syphilis (CDC fact sheet)
Primary and Secondary Syphilis — United States, 2005–2013 (CDC Morbidity and Mortality Weekly Report)
Syphilis—Reported Cases by Stage of Infection, United States, 1941 – 2012 (CDC)

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