Tagged Tests (Medical)

Think Like a Doctor: The Boy With Nighttime Fevers Solved!

Photo

Credit Andreas Samuelsson

On Thursday we asked Well readers to take on the case of a 7-year-old boy who’d been having fevers and drenching sweats nightly for over a month. More than 300 of you wrote in, and although 20 of you came up with the right diagnosis, only three of you figured out both the diagnosis and the test needed to confirm it.

The correct diagnosis is…

Coccidioidomycosis, or valley fever.

The diagnosis was made based on a lymph node biopsy.

The first reader to suggest this diagnosis and the test was Dr. Malkhaz Jalagonia, an internist from Zugdidi, in the Republic of Georgia. He says he’s never seen a case like this, but he’s fascinated by zebras and so recognized the disease immediately. Well done, Dr. Jalagonia!

One of the reasons I chose this case was that, although this diagnosis is rare in life, it was the most frequently suggested diagnosis in my last column – the one about the middle-aged man with a cough for over a year. I thought it would be fun to show what valley fever really looks like. Hope you did too.

The Diagnosis

Coccidioidomycosis is a lung infection usually caused by inhaling the spores of a tiny fungus called coccidioides. This organism grows as a mold, a few inches below the surface of the soil in deserts in parts of the southwestern United States, Mexico and other countries of Central America.

In dry conditions, the fungus becomes fragile and is easily broken up into tiny single-celled spores that can be sent airborne with even the slightest disturbance. And once these single cells are aloft they can remain suspended there for prolonged periods of time.

Infection is usually acquired by inhaling the spores. Once lodged in the lung, the organism begins to reproduce almost immediately. The time course between exposure and disease depends on the inhaled dose and the patient’s immune system.

Symptoms, or No Symptoms

Disease severity varies considerably. Nearly half of those who breathe in these spores have no symptoms, or symptoms are so mild they never visit the doctor’s office.

More severe infection usually takes the form of a slowly progressive pneumonia known as coccidioidomycosis, or valley fever. This illness is characterized by a cough, fevers, chest pain, fatigue and sometimes joint pain. Indeed, because of the prominent joint pain, in some cases — though not this one — the disease is also known as desert rheumatism.

Rashes are also seen in many patients. Those who get a rash seem to have a more benign course of illness. The thinking is that the skin symptoms are the result of an aggressive immune response in the host to the pathogen.

Symptoms can last for months, and in many cases they resolve without treatment. But in some cases they get worse.

Hard to Diagnose

Those who seek medical attention are often not diagnosed — or not diagnosed quickly — because the symptoms of valley fever are not very specific, and few of the tests that doctors usually order have features that are unusual enough to suggest the diagnosis.

Chest X-rays are often normal. Blood tests may be normal as well, though some patients, like this child, have an unusually high number of a type of white blood cell known as eosinophils. These cells are usually seen in allergic responses or with infections due to parasites.

The most important clue to the possibility of this infection is travel to one of the areas where the fungus lives. In the United States, valley fever is endemic primarily in Arizona and southern California, as well as parts of southern New Mexico and West Texas. Indeed, the name valley fever is a shorter and more general term for an earlier name, San Joaquin Valley fever, because it was so common in that part of California.

A Dramatic Rise

There has been a significant increase in the number of cases of coccidioidomycosis in the past 15 years, with nearly 10 times as many in areas where the fungus is found. Development in areas where the fungus is endemic is thought to be the primary cause. Better diagnostic testing may also play a role.

While this infection may cause only a minor illness in many, there are some – like this child – for whom the disease can spread beyond the lungs into the rest of the body. Disseminated coccidioidomycosis is usually seen in those with some problem with the immune system – an underlying disorder such as H.I.V., for example, or because someone is taking immune suppressing medications such as prednisone.

Once out of the lungs, the bugs can go anywhere in the body, though they seem to prefer joints, skin or bones. Those with disseminated disease have to be treated for a long time – often up to a year, or occasionally for life.

How the Diagnosis Was Made

The little boy had been sick for nearly a month, and his parents were getting quite worried. He was pale, thin and really, really tired.

With their pediatrician’s encouragement, they had gone on a long planned, much anticipated vacation to the mountains of Colorado. But the child wasn’t getting better, and so his mother took him to yet another doctor – this one in a walk-in clinic.

The results of some simple blood tests done at that visit worried the doctor, who suggested that the boy be taken to a hematologist, a specialist in diseases and cancers of the blood.

Now the parents were terrified. The mother faxed copies of the lab results to her brother, a researcher in immunology. He wasn’t a physician but showed the results to friends who were. They agreed with the doctor at the walk-in clinic: The boy needed to be seen by a hematologist.

A Series of Specialists

The next morning the family headed home to Minneapolis. They took the boy to his regular pediatrician, who sent them to a hematologist. It wasn’t cancer, that specialist told them. Maybe some kind of severe food allergy, he suggested, and referred them to a gastroenterologist.

Not a GI thing, that specialist told them, and he referred the now nearly frantic family to an infectious disease specialist and a rheumatologist.

Nearly 10 days after getting the alarming blood test results, the couple and their child found themselves in the office of Dr. Bazak Sharon, a specialist in infectious diseases in adults and children at the University of Minnesota Masonic Children’s Hospital. After introducing himself, Dr. Sharon settled down to get a detailed history of the boy and the family.

A Desert Visit, but Other Possibilities

When Dr. Sharon heard that the family had spent a week at a ranch in the desert of Arizona, he immediately thought of coccidioidomycosis. The fungus isn’t found in Minnesota or Colorado – which is probably why other doctors hadn’t considered it. But it is all over the part of Arizona where they’d visited.

Still, there were other possibilities that had to be ruled out, including some types of cancer. After Dr. Sharon examined the boy, he sent the family to the lab for a chest X-ray and some blood tests.

The results of those tests were concerning. The child was getting worse. Dr. Sharon wasn’t going to be back in clinic for a week, and he was certain the child needed to be seen and diagnosed well before then. He called a friend and colleague who was taking care of patients in the hospital, Dr. Abraham Jacob, and asked if he would admit the child and coordinate the needed diagnostic workup for the boy.

First Some Answers, Then More Questions

Once in the hospital, the child had a chest CT scan. The results were frightening. The lymph nodes that surround the trachea, the tube that carries inspired air to the lungs, were hugely enlarged. They were so big that the trachea was almost completely blocked. The opening at one point was just two millimeters wide – basically the dimensions of a cocktail straw. Any worsening of his disease might cause the tube to close completely, making breathing impossible.

A pediatric surgeon was brought in immediately. The enlarged lymph nodes had to be removed. First in order to protect the child’s airways. And second because those nodes would reveal what the little boy had.

But trying to do surgery on a 7-year-old boy’s neck was complicated. Although the surgeon could easily feel the enlarged gland in his neck, it was close to many vital blood vessels, nerves and organs. The child had to lie perfectly still, and with most children that could only be guaranteed if they were under anesthesia.

Risky Surgery

When the anesthesiologist saw the CT scan, the doctors’ concern grew. They could put the child to sleep, but if anything went wrong during surgery and they had to put a tube down his throat into his lungs, they weren’t sure it would be able to fit.

The trachea was so small, there was no guarantee they could get the tube into place. In order to do this safely, they said they needed to use a technique known as ECMO, or extracorporeal membrane oxygenation – basically a machine that allows them to oxygenate blood without sending it to the lungs.

Rather than subject the child to this risky procedure, Dr. Jacob and the surgeon decided to just take a piece of the lymph node out in order to make the diagnosis. Treatment of whatever the boy had would bring the size of the lymph node down.

Don’t Make a Move

When the boy was brought to the procedure room, the surgeon explained that he was going to put numbing medicine all around the bump in the boy’s neck and take out a piece of it. The child listened calmly and agreed.

He wasn’t to move at all, the surgeon explained. The child nodded solemnly. He understood. The boy was remarkably mature and so brave throughout the entire process of anesthetizing the region that the surgeon thought he might be able to continue and get the entire node out.

He paused in his surgery and consulted the parents. Would they allow him to try this? Their son was doing so well he was sure he could get it. They agreed, and the surgeon returned to his task. The lymph node came out without difficulty.

Photo

Credit

It was sent to the lab and the answer came back almost immediately. The swollen tissue was filled with the tiny coccidioides. You can see a picture of these little critters here.

A Year of Medicine

The boy was started on an intravenous medicine for fungal infections. Then after a week it was changed to one he could take by mouth.

Because the infection had spread beyond the lungs, the child will have to take this medication for a year. After starting the medication, the child began to look a little better. Slowly he was less tired. Slowly he started to eat the way he used to.

It was a long road to the diagnosis, and an even longer road to cure, but at least they were on the right one.

A Perfect Storm?

The mother called the ranch in Arizona where they stayed to let them know what had happened.
The owner told them that their son was not the only person visiting then who got sick. At least one other guest, there at the same time, had come down with the disease.

Apparently the conditions for spread were perfect. Their stay had started off with some rain, followed by heat and some brisk wind. The moisture helped the fungus grow; the heat dried it out so that it could become easily airborne and inhaled when lifted by the wind.

Although the family has loved their visits to this ranch – this was their second year – the child’s mother tells me that she’s not sure she’ll be going back, at least for a couple of years. Most people exposed to valley fever become immune forever, but because her little boy was so very sick, she’s planning to wait a while before they return.

Doctors Should Listen to Patient Instincts

Photo

When a patient complains that he or she doesn’t feel well, doctors should pay attention.

That’s the finding of a new study that suggests that how patients say they feel may be a better predictor of health than objective measures like a blood test. The study, published in Psychoneuroendocrinology, used data from 1,500 people who took part in the Texas City Stress and Health Study, which tracked the stress and health levels of people living near Houston.

The survey included self-assessments from a 36-item questionnaire as well as blood samples, which were analyzed for markers of inflammation and the activity of latent herpes viruses. (The viruses were benign and not the type associated with sexually transmitted disease or cold sores.) Inflammation and viral activity are general markers of immune system health, but they don’t typically cause any obvious symptoms or show up in traditional blood tests.

The study found that when people said they felt poorly, they had high virus and inflammation levels. People who reported feeling well had low virus and inflammation levels.

“I think the take-home message is that self-reported health matters,” said Christopher P. Fagundes, an assistant psychology professor at Rice University and a co-author of the study. “Physicians should pay close to attention to their patients. There are likely biological mechanisms underlying why they feel their health is poor.”

Think Like a Doctor: A Cough That Won’t Stop

Photo

Credit Andreas Samuelsson

The Challenge: A 43-year-old man starts to cough every time he takes a deep breath. Can you help him figure out why?

Every month, the Diagnosis column of The New York Times Magazine asks Well readers to try their hand at solving a medical mystery. Below you will find the story of a healthy middle-aged man who starts coughing and just can’t stop. He can’t exercise. He can’t laugh. Sometimes he can’t even talk without interrupting himself with deep, awful-sounding hacks.

Below I provide much of the information available to the doctors who examined him. It took 18 months before a doctor figured out what was wrong. Can you do it any faster? The first reader to offer the correct diagnosis will receive a signed copy of my book, “Every Patient Tells a Story,” and the satisfaction of solving a real-life case.

An Emergency 18 Months in the Making

“You should probably have that checked out in the E.R.,” the nurse suggested to the middle-aged man on the other end of the phone. “And sooner rather than later.” In the next few days? he asked. In the next few hours, the nurse replied.

The 43-year-old man hung up the phone more surprised than worried. He had been dealing with an annoying and persistent cough for a year and a half and none of the doctors or nurses he’d seen in that time seemed to think it was a big deal. Until now – since he started coughing up blood.

He called his wife to tell her what the nurse suggested. After work he was going to drive himself to the emergency room at the veterans’ hospital in downtown Denver. He could hear the relief in her voice when she asked if he wanted her to come with him. No, she had enough on her hands looking after their four children. He’d let her know what they said.

An Abnormal X-ray

In the E.R., the man’s complaint got him seen right away. His chest X-ray was normal, they told him. (The X-ray is shown here)

Photo

Credit

But when they came back into his cubby wearing masks over their noses and mouths he suspected that the CT scan was not. The scan had shown some kind of hole in his lungs, the E.R. doctor told him. That’s why he was coughing up blood. One of the diseases that can cause those kinds of cavities was tuberculosis. Had he ever been exposed to TB? Not that he knew of. (The CT scan images are shown here.)

Photo

Credit

Because TB was such a dangerous disease – and extremely contagious — they would have to find out if he had it. If he did, he would certainly need to be treated. And to make sure he didn’t infect anyone while he was being tested, he needed to be in a specialized room – a room where the air he breathed wouldn’t be breathed by anyone else. None of the hospital’s negative pressure rooms were available so they were going to transfer him to Presbyterian/St. Luke’s Medical Center, the big regional hospital just a couple of miles away. They had an available room and would be able to care for him.

You can read the patient’s history and physical from the E.R. here:

Admission Notes

The patient’s notes from the hospital.

The Patient’s Long Story

Dr. Karen Schmitz was the second-year resident assigned to care for the new guy sent over to be tested for TB. She could see the patient sitting up in bed talking on the phone as she secured the mask over her nose and mouth and entered the double-door room that would prevent any air-borne infectives from spreading. As she entered, the patient looked at her, smiled a warm smile, and held up a finger as if to say, “I’ll be with you in a minute.” As he finished up his phone call, the doctor looked at him carefully. He was a robust guy – youthful and healthy looking. He certainly didn’t look like any of the people she’d cared for with active TB. When he hung up, he apologized and the doctor introduced herself. She pulled up a chair and settled in. She knew from what she’d read in the chart that it was going to be a long story.

The bloody cough was pretty new, he told her. It started two weeks earlier. But the cough itself had been around for 18 months. He’d caught it a couple of summers ago, and it just never went away. At first he thought it was bronchitis – he’d had that a lot when he was a kid — but when it lasted for more than a couple of weeks, he went to see his primary care doctor. He’d never had a fever or any other sign of being sick. He had some runny nose and itchy eye symptoms that started weeks before the cough and so he and his doctors thought it was allergies. Or asthma. His doctor prescribed an antihistamine and later an inhaler. They fixed his runny nose, and eased up the chest tightness, but the hacking never slowed down.

He went to an ear, nose and throat specialist who scoped his nose and throat. Completely normal. He had a chest X-ray – also normal.

He saw a pulmonologist who, hearing that he had a little heartburn, started him on a powerful antacid medication. That pill completely fixed the heartburn but didn’t touch the cough.

That first year he’d seen three doctors in a half-dozen appointments, and had a scope, a chest X-ray and a slew of blood tests and still no one could tell him why he was coughing or how to make it stop. So he figured he’d just have to learn to live with it.

Not that he wanted that. Every time he took a deep breath he would cough. In the middle of telling a good story he’d have to stop to cough. Whenever he laughed, he coughed. Dozens of times a day, he coughed. He even had to give up exercising. Any time he exerted himself, even just a little, the cough would kick in with a shocking fierceness. Recently he’d tried riding his bike and just 15 minutes in he had to stop. Even though he was taking it easy, as soon as he started to breathe just a little harder than usual, he nearly keeled over. He had to get off his bike. He was doubled over with the ferocious hacking. Sweat and tears poured down his cheeks. He could hear the rasping sound of his breath between the deep jagged coughs. He wondered if he could even make it home. That was the last time he tried to exert himself. And that had been weeks earlier.

You can see the pulmonologist’s notes here:

Pulmonary Consult Note

The notes from the lung specialist.

The Doctor’s Visit

But eventually, he started to cough up blood. That happened the morning after he’d had another terrible blast of coughing. He’d gone with his wife and four children to Vail for Thanksgiving. As he was packing the car to come home he started coughing and felt as if it would never stop, as if he’d never be able to breathe again. But he recovered, until the next morning when he started to cough up blood. It scared him. And terrified his wife. When it didn’t get better after a couple of weeks, he’d decided to call the hospital, and the nurse on the phone sent him to the E.R.

Now, talking to Dr. Schmitz, he told her he never smoked and rarely drank. And even though it was legal, he never smoked pot either. He had been an officer in the Air Force and now was a real estate agent. He had spent a few months in Kuwait and another few in Saudi Arabia, but that was in the 1990s. He’d traveled a bit – mostly out west, but nothing recent. He took medicine for high cholesterol, the antihistamine and the antacid medicine, but that was it. His exam was unremarkable. Dr. Schmitz listened hard through her stethoscope as she placed it on his chest where she knew the hole in his lung was, but heard nothing abnormal.

She didn’t start him on antibiotics, because she didn’t yet know what she was treating, she told him. Tuberculosis seemed unlikely so she was going to test him for other infections as well. To make sure the team didn’t miss anything, they consulted an infectious diseases specialist and a pulmonologist.

You can see their notes here.

Infectious Disease Consult

Notes from the infectious disease specialist.

Dr. Schmitz checked on her patient throughout the day. He was always on the phone, his computer open, hard at work. So far they were doing nothing for the guy – just watching and waiting for answers. When the TB test came back negative, Dr. Schmitz thought he might very well be the healthiest patient in the entire hospital. Was she right? The patient got his diagnosis the very next day.

Solve the Mystery

What do you think is making this patient cough?

Post your answers in the comment section. I’ll tell you the answer tomorrow.

Pelvic Exams May Not Prolong Life, a Task Force Says

Photo

Credit Stuart Bradford

Many women dread the indignity of the annual pelvic exam, in which they are poked and prodded with their feet in stirrups.

Now an influential government task force says there isn’t evidence that routine pelvic exams are necessary or prolong a woman’s life. Some experts think they may even do more harm than good.

And although some 60 million pelvic exams are done each year, the practice hasn’t been studied much. The United States Preventive Services Task Force, a panel of experts in preventative and primary care, declared today that the current evidence is “insufficient” to assess the balance of benefits and harms of the pelvic exam. The task force performed an exhaustive search of the medical literature published over the past 60 years and located only eight studies looking at the diagnostic accuracy of pelvic exams for just four medical conditions.

“We can’t make a recommendation one way or the other at this time,” said Dr. Maureen Phipps, the chairwoman of obstetrics and gynecology at Brown University’s Warren Alpert Medical School and a member of the task force. “We need more evidence.”

The finding refers only to the practice of routine pelvic exams for healthy women, and does not apply to women who are pregnant or those with existing conditions or symptoms that need to be evaluated.

“This is not a recommendation against doing the exam,” Dr. Phipps emphasized. “This is a recommendation to call for more research to figure out the benefits and harms associated with screening pelvic exams. That’s the big message here.”

This is the first time the Preventive Services Task Force has turned its attention to pelvic examinations, which can include a visual exam of external genitalia, an internal exam using a speculum, manual palpation to check the shape and size of the uterus, ovaries and fallopian tubes, and the simultaneous palpation of the rectum and vagina using lubricated gloves.

The recommendations about pelvic exams do not change current guidelines for cervical cancer screening, in which cells are collected from the surface of the cervix and vagina. The screening test is recommended every three years for women ages 21 to 29 and every five years for ages 30 to 65.

Pelvic exams have been subjected to quite a bit of scrutiny in recent years, possibly because of turf battles between physicians and reimbursement battles with insurers. The exams can be both time-consuming and expensive, in part because doctors are advised to have a chaperone present during the exam.

In 2014, the American College of Physicians told doctors to stop performing routine pelvic exams as part of a physical, saying there is no evidence they are useful and much evidence to suggest they can provoke fear, anxiety and pain in women, especially those who have suffered sexual abuse or other trauma.

The American Academy of Family Physicians endorsed that recommendation. But the American College of Obstetricians and Gynecologists (ACOG) continues to recommend an annual pelvic examination for women 21 and older, while acknowledging a dearth of data. Its Well-Woman Task Force, which was convened in 2015, recommended annual external exams but said internal speculum and bimanual exams for women without specific complaints or symptoms should be “a shared, informed decision between the patient and provider.”

“No woman should ever be coerced into having an exam, and that discussion should take place in a nonexam room environment, while the woman is fully dressed and sitting at equal level with the provider at a round table, without a desk between them,” said Dr. Barbara S. Levy, vice president for health policy at ACOG.

But Dr. Levy says that the exams should not be scrapped because trials – which would be difficult to design and fund — have not been carried out.

“I think there’s tremendous value in the laying on of hands,” Dr. Levy said. “Touch has a lot to do with establishing trust, and there are many things I can pick up on during a pelvic exam because I’m skilled and trained.”

She may pick up on the fact that a woman is experiencing abuse or domestic violence, or discover that a woman may benefit from interventions to strengthen muscles to prevent urinary incontinence down the line, she said, adding, “This is the art of medicine.”

Most obstetrician-gynecologists do routine pelvic exams, as do many other physicians, and the majority of preventive care visits between 2008 and 2010 included one, according to the task force’s report.

Health care providers say they can pick up on myriad gynecologic conditions during a pelvic exam, including cancers of the cervix, vagina, vulva, ovaries and endometrium, sexually transmitted diseases, genital warts and genital herpes, uterine fibroids, ovarian cysts and more.

But the task force found no studies that assessed how effective the exams are for reducing death and disease. So for example, although a pelvic exam might be useful in detecting ovarian cancer, the disease is relatively rare, so exams often result in false-positives that can lead to unnecessary surgery, the report said.

In four ovarian cancer screening studies with over 26,000 screened patients, more than 96 percent of the positive test results were false positives, meaning there was no real disease and many patients had unnecessary follow-up procedures.

But Dr. Levy said the call for more research is impractical. Exams are part of preventive care that is tricky to evaluate or assess, she said, and such studies are unlikely to get funded. “Looking for evidence-based answers to centuries-old processes and procedures doesn’t always make sense,” she said.

Direct-to-Consumer Lab Tests, No Doctor Visit Required

Photo

Credit Jon Krause

Two years ago, Kristi Wood was tired and achy and could not think clearly, and she had no idea why.

“I was in a fog and feeling awful,” said Ms. Wood, 49, who lives in Seattle and is an owner of a hiking supply company.

Ms. Wood had her blood tested by a consumer service called InsideTracker, which analyzes 30 hormones and biomarkers, such as vitamin levels, cholesterol and inflammation. After the service told Ms. Wood she had excessive levels of vitamin D, she cut back on a supplement she had been using and said she almost immediately felt better.

Now she has her blood drawn and tested by InsideTracker every four months to check everything from her blood sugar to her B12 levels which, she said, “allows me to be proactive” about her health. The services typically send their customers to a nearby clinic where they can have a vial of their blood drawn and sent for analyses. But InsideTracker also offers customers the option to have nurses show up at their home and draw blood. (Such services are different from another blood testing company that has been much in the news, Theranos, which aims to provide laboratory test results from a single finger prick.)

Home testing services like InsideTracker say they are empowering consumers, allowing them to spot metabolic red flags before they progress to disease. But critics say the services often lack proper medical oversight and convince healthy people that they’re sick, leading to unnecessary testing and treatment.

Those concerns have not stopped people from seeking home testing. The market for direct-to-consumer laboratory tests was valued at $131 million last year, up from $15 million in 2010,according to Kalorama Information, a pharmaceutical-industry research firm.

In December, New York Attorney General Eric T. Schneiderman accused two companies, DirectLabs and LabCorp, of violating a state law that requires laboratory tests to be carried out at the request of licensed medical practitioners.

DirectLabs had sold hundreds of health tests to consumers, ranging from checks for heavy metals and vitamins to screening for parasites and disease. But Mr. Schneiderman said the person fulfilling the medical practitioner role was actually a chiropractor who had never met, spoken to or followed up with any patients.

DirectLabs did not respond to a request for comment. DirectLabs and LabCorp agreed to pay fines, and DirectLabs ceased operating in New York. In a statement, Mr. Schneiderman said that allowing consumers to be tested for serious medical conditions without consulting a physician put “their health in jeopardy.”

Advocates of home testing, however, say such cases do not reflect industry practices. InsideTracker and another leading company, WellnessFX, said they worked with doctors who reviewed all test results.

Paul Jacobson, the chief executive of WellnessFX, based in San Francisco, said the company complied with all regulations and offered customers the option of consulting with a doctor, nutritionist or registered dietitian to discuss their results.

WellnessFX sells packages ranging from $78 to $988, offering analyses of 25 to 88 blood biomarkers, including vitamins, lipids, cardiovascular markers and thyroid and reproductive hormones. Depending on the results, the company also suggests supplements, foods and exercise.

“You need to offer solutions to people; otherwise, you’re just giving them meaningless information,” Mr. Jacobson said.

Tara Boening, the dietitian for the Houston Rockets of the National Basketball Association, said the team started using InsideTracker this season. The players look at their reports (deficiencies are highlighted in red), which include suggested corrective actions such as eating more red meat and leafy greens if they are low in iron. The players “have been really receptive” to the information, Ms. Boening said.

But some doctors say that there is no evidence that such monitoring makes a meaningful improvement in health. Dr. Pieter Cohen, an assistant professor at Harvard Medical School and an internist at Cambridge Health Alliance, cautioned that the levels of vitamin D and other biomarkers that were optimal for one person might be very different from what is optimal for another person. He said InsideTracker’s lab reports, for example, classified vitamin D levels below 30 ng/mL as “low” — even though a level above 20 is perfectly normal and adequate for most people.

Dr. Cohen said his major concern with direct-to-consumer blood tests was that they screened for so many biomarkers and created seemingly arbitrary ranges for what is considered normal. Then they give people advice that they already know they should be following.

“The best-case scenario here is you lose your money and then you’re reminded to get more sleep and to eat more fruits, vegetables and fish,” he said. “The worst-case scenario is that you end up getting alarmed by supposedly abnormal results that are actually completely normal for you.”

InsideTracker was founded by Gil Blander, a biochemist who did postgraduate research on aging at M.I.T. He said the idea behind InsideTracker was analogous to routine maintenance for cars.

“We decided, let’s try to do that for humans,” Dr. Blander said. “We can help you find a small issue today that might be a big problem in the future.”

Some, like Joseph Roberts, say the services are life-changing. Four years ago, Mr. Roberts a former Army Ranger and a retired master sergeant, was plagued by fatigue, depression and weight gain despite frequent exercise. Mr. Roberts, then 39, said doctors told him his symptoms were a normal part of aging.

Eventually, he decided to have his blood tested with InsideTracker, and the results surprised him, he said. He was told he had low testosterone and vitamin D, as well as excessive levels of vitamin B12.

Mr. Roberts cut back on daily energy drinks, which are loaded with B12. He also saw a doctor to discuss his testosterone levels. He learned his low levels were linked to a brain injury he had sustained as a result of a roadside bomb explosion in Iraq in 2003. He began testosterone-replacement therapy and now regularly checks in with a doctor. He also has his blood tested with InsideTracker every four months.

“I’ve had a huge improvement in my quality of life,” he said. “It’s money well spent.”

For more fitness, food and wellness news, follow us on Facebook and Twitter, or sign up for our newsletter.

Medical Errors May Cause Over 250,000 Deaths a Year

Photo

If medical error were considered a disease, a new study has found, it would be the third leading cause of death in the United States, behind only heart disease and cancer.

Medical error is not reported as a cause of death on death certificates, and the Centers for Disease Control and Prevention has no “medical error” category in its annual report on deaths and mortality. But in this study, researchers defined medical error as any health care intervention that causes a preventable death.

For example, in one case a poorly performed diagnostic test caused a liver injury that led to cardiac arrest, but the cause of death was listed as cardiovascular. In fact, the cause was a medical error. Diagnostic errors, communication breakdowns, the failure to do necessary tests, medication dosage errors and other improper procedures were all considered medical errors in the study.

Using studies published since 1999, the researchers calculated a mean rate of death from medical error. Then they applied this rate to the yearly number of hospital admissions. In this way, they estimated that an average of 251,454 deaths per year in the United States are caused by medical error. The study is in BMJ.

“Humans will always make mistakes, and we shouldn’t expect them not to,” said the lead author, Dr. Martin A. Makary, a surgeon at Johns Hopkins. “But we can engineer safe medical care to create the safety nets and protocols to address the human factor. Measuring the magnitude of the problem is the first step.”

Swipe Right to Connect Young People to H.I.V. Testing

Photo

A screenshot of the Healthvana app.

A screenshot of the Healthvana app.Credit

Midway through her sophomore year of high school, my patient told her parents that she had missed two periods and was worried she might be pregnant.

Stunned to learn that she was sexually active, her parents took her to the pediatrician, who had another surprise: She wasn’t pregnant but she did have H.I.V.

I met her a few days later in my H.I.V. clinic, and watched her start crying as I told her that her H.I.V. was advanced and that she needed antiviral treatments really soon.

Sadly, her story of late diagnosis is far from uncommon. Ten thousand people ages 13 to 24 are given H.I.V. diagnoses every year in the United States, and epidemiologists estimate fully half of young people with H.I.V. do not know it. While the virus is no longer considered the death sentence it was decades ago, late diagnoses like my patient’s can undermine the life-saving benefits of antiviral medications, leading to greater risk of AIDS and death.

Part of the problem is the low rate of H.I.V. testing in young people, despite the recommendation by the Centers for Disease Control and Prevention that every sexually active person over the age of 13 get tested. Earlier this year, C.D.C. researchers reported in Pediatrics that pediatricians and parents are testing five times fewer young people for H.I.V. than recommended by national guidelines. Only 22 percent of sexually active high school students were ever tested for H.I.V., and, even worse, the likelihood that young women like my patient were tested for H.I.V. actually fell from 2011 to 2013.

Tio Pier, a Stanford University student who advocates for testing and sexual health education, says his high school teachers provided basic education about H.I.V. in a health class but, “they don’t follow up and say, ‘and if you feel like you need a testing resource you could go here…’ There was none of that.” Indeed, a 2015 survey showed that less than half of sexually active gay and bisexual adolescents even knew where they could get an H.I.V. test.

A number of groups are working on ways to improve access to H.I.V. testing for young people. Tim Kordic, a health educator with the Los Angeles Unified School District, is partnering with a company called Healthvana to place educational posters about H.I.V. in classrooms and provide students with a free iPhone app that harnesses GPS technology to locate nearby H.I.V. testing facilities.

Most public health departments and community health clinics offer free H.I.V. testing to people of all ages, and in New York and 30 other states, children under 18 have legal access to H.I.V. testing without parental notification. Kids who test positive can access life-saving H.I.V. therapy early, with drug costs often covered by the federally funded Ryan White HIV/AIDS Program. Kids who test negative leave the clinic better educated and probably with a pocketful of free condoms.

Ramin Bastani, the chief executive of Healthvana, says their app has delivered the results of over 200,000 H.I.V. and sexually transmitted infection tests to patients at participating health care providers across the country. The confidential service also gives users information on how to access treatment if a result is positive. Some young people post negative H.I.V. testing results on social media as a way of encouraging others to get tested, Mr. Bastani said.

Healthvana isn’t the only app seeking to connect youth to H.I.V. testing. The United States Department of Health and Human Services has its own locator app pointing out nearby testing services and a panoply of other resources like H.I.V. care, substance abuse services and housing assistance. Yet another app connects users to free condoms, and there is even a mobile game designed to sensitize youth to the risks of teenage pregnancy.

“It’s hard for teenagers to physically go places, and to know that they will be welcomed,” says Karen Rayne, a sexuality educator and author of the book “Breaking the Hush Factor: Ten Rules for Talking With Teenagers about Sex.” To Dr. Rayne, the privacy of a mobile app – including the ability to delete the app after use – is a great way to “draw teens out” and “give them the confidence to access a public physical space” like an H.I.V. testing clinic.

Mobile phone apps that connect youth to H.I.V. testing cannot supplant other proven H.I.V. prevention methods. Kids still need quality health education in school and optional school-based H.I.V. testing. Most important, kids need caring parents who support access to high-quality care.

My patient didn’t have access to any of these resources. Fearing fellow churchgoers would judge them for her diagnosis, her parents kicked her out of the house. She fought to finish high school while sleeping on a neighbor’s couch and struggled to take medications and keep her medical appointments. At 18 she moved to a new state, hoping to start a new life.

She and the 10,000 other young people in the United States given H.I.V. diagnoses every year deserve more. They need evidence-based sex education, supportive parenting and better access to the H.I.V. testing information that could save their lives.

Tim Lahey, M.D., M.M.Sc., is an H.I.V. physician, ethicist and director of education at the Dartmouth Institute for Health Policy & Clinical Practice in Dartmouth’s Geisel School of Medicine. He is a member of the Dartmouth Public Voices Fellowship.

Related:

For more fitness, food and wellness news, follow us on Facebook and Twitter, or sign up for our newsletter.

Think Like a Doctor: Packing on the Pounds Solved!

Photo

Credit

On Thursday we challenged Well readers to take on the case of a 59-year-old woman who had not been able to stop gaining weight. I presented the case as it was presented to the doctor who made the diagnosis and asked for the final piece of data provided by the patient as well as the correct cause of her symptoms.

I thought the tough part of this case was something that few of my readers would have to contend with – that her complaints and past medical history were quite ordinary. Like many of us, she was overweight and she came to the doctor because she had difficulty losing weight. In the background she also had high blood pressure, obstructive sleep apnea and low back pain, knee pain and leg swelling. These are some of the most common reasons patients seek medical attention. Although her problems were run of the mill, the cause was not. And many of you had no difficulty spotting this zebra.

The correct diagnosis was…

Acromegaly

The last piece of data, provided by the patient, was a photograph taken several years before. It was only by seeing the changes in the patient’s face that had occurred over the past few years that the doctor recognized that this patient’s problem was unusual.

The first person to make this diagnosis was Dr. Clare O’Connor, a physician in the second year of her training in internal medicine. She plans to subspecialize in endocrinology. She says it was the swollen legs that didn’t compress that gave her the first clue. Well done.

The Diagnosis

Acromegaly is a rare disease caused by an excess of growth hormone, usually due to a tumor in the pituitary gland of the brain. The disease’s name, from the Greek, serves as a fitting description of the most obvious symptoms: great (mega) extremity (akron). The tumor secretes a protein called growth hormone that signals the liver to produce a substance called insulin-like growth factor 1, or IGF 1, which in turn tells cells throughout the body to start proliferating.

With the flood of IGF 1, soft tissues throughout the body begin to grow. This becomes visible as hands, feet, cheeks, lips and tongue enlarge. Although these are the changes that can be observed, other structures are similarly affected, causing cardiac problems (usually enlargement of the heart muscle or valves), respiratory problems (usually obstructive sleep apnea), metabolic problems such as diabetes, and excessive sweating and musculoskeletal problems such as carpal tunnel syndrome. The patient had all of these problems except diabetes.

Eventually, usually after years of untreated disease, bone will start to expand as well. This patient’s feet weren’t just swollen, the bones themselves were larger. The difference between the patient’s face in the doctor’s office and that in the picture wasn’t due to the years that had passed but to changes in their very structure. The lips, tongue and nose were broader. The bone of the chin was thicker, the cheeks wider.

Worth a Thousand Words

Once Dr. Donald Smith, the doctor who saw the patient at Mount Sinai Hospital, heard the summary of the case from the doctor in training who saw her first, he turned to the patient. Did she have anything to add?

She thought for a moment and then said, “Let me show you a picture.” She reached over to her purse and pulled out her driver’s license. That’s me just a few years ago, she told him. The picture showed an attractive middle-aged woman who bore little resemblance to the one before him. That’s when Dr. Smith knew that there was something more than simple weight gain at work.

It wasn’t low thyroid hormone causing this, he decided. A patient gaining this much weight due to thyroid disease should have other symptoms typical of thyroid disease as well.

Two other possibilities came to mind. Both were diseases of hormonal excess; both were characterized by rapid weight gain. First was Cushing’s disease, which is caused by an overproduction of one of the fight-or-flight hormones called cortisol; the second was acromegaly, which is caused by too much growth hormone.

How the Diagnosis Was Made

Dr. Smith looked at the patient, seeking clues that suggested either condition. He saw that just below her neck on her upper back was a subtle area of enlargement. This discrete accumulation of fat, known as a buffalo hump, can occur with normal weight gain, but it is also frequently seen in patients with Cushing’s disease.

Do you bruise more easily these days, he asked? Cushing’s makes the skin fragile, and it bruises more easily. No, she hadn’t seen that. Did she have dark purple stretch marks on her stomach from the weight gain? The rapid expansion of the abdomen can cause the fragile skin of these patients to develop stretch lines. No, again. So maybe not Cushing’s.

Have you changed shoe sizes in the past couple of years? the doctor asked. Enlargement of the hands and feet is rare but is the hallmark of acromegaly. Yes, she exclaimed. Just a few years ago she wore a size 8. Now she can barely squeeze into a size 13.

Can I look at your teeth, the doctor asked. He saw that there were gaps between most of her teeth. Was that new? Yes. She had been told that was from gum disease. “You don’t have gum disease. You have acromegaly,” the doctor declared confidently. The new spaces were evidence that her jaw had, like her feet, simply grown larger.

Dr. Smith referred the patient to Dr. Eliza B. Geer, an endocrinologist who specialized in diseases of the pituitary at Mount Sinai Hospital. She measured the level of growth hormone and IGF 1. Both were dramatically elevated. The final test was a glucose tolerance test. A sugary drink would normally suppress IGF 1. The patient’s level was unaffected. That confirmed the diagnosis; she had acromegaly. An M.R.I. scan revealed a tiny tumor on the pituitary, and a few weeks later the patient had surgery to remove the growth.

The Real Mystery

From the first moment I heard of this case I wondered, how could this have been missed? How could a woman go through such dramatic changes and not have her doctor think: acromegaly.

And yet this is a diagnosis that is frequently missed. The average time to diagnosis is five years. And, like this patient, most people with acromegaly are seen by many doctors before the correct diagnosis is made. Indeed, it is said that patients are more likely to be diagnosed by a doctor who has never seen them before than by their longstanding regular doctor – because these changes take place slowly, over years.

But in wondering about this missed diagnosis, I suddenly recalled a missed case of my own just over a decade ago. I was a few years into my practice and had a patient who had the same string of common problems: She was overweight, and she had high blood pressure, obstructive sleep apnea, spinal stenosis and carpal tunnel syndrome. She worked hard to keep all of her medical problems well controlled. She was really a model patient. One week she was seen by one of the trainees in my practice. That doctor took one look at her and saw what I had not. She ordered the test for acromegaly. Like this patient, my hardworking patient had clearly had acromegaly for years.

Missing the Diagnosis

How do we miss this disease? Acromegaly manifests itself in two ways. First, by causing a series of ordinary diseases that are among the most common problems that bring patients to the doctor. Most patients with these medical problems don’t have acromegaly.

It’s the second manifestation that may be the real issue for me and other doctors. The disease clearly causes changes in the face. The picture in my head of what acromegaly looks like is based on two actors affected with the disease: Richard Kiel, who played the murderous character Jaws in the James Bond movies, and Ted Cassidy, who played Lurch in the television series “The Addams Family.”

But those images are misleading. These actors had acromegaly during childhood, before their bones had stopped growing, and so the effect of the disease was profound and permanent. Their bodies were literally shaped by the disease. Mr. Kiel was 7-foot-2. Mr. Cassidy was 6-foot-9. Both had an exaggerated version of the facial changes of bony overgrowth, with prominent brows and massive jaws. Because of these dramatic changes, those who get the excess growth hormone before puberty are said to have gigantism, rather than acromegaly.

In contrast, when the disease strikes during adulthood, the bones have very limited ability to grow. The changes are thus more subtle and so, often enough, the diagnosis is missed.

This patient decided to show her doctor the photograph after a remark made by her sister. What’s happened to your face? she asked. That’s when the patient began to believe that the distressing changes she saw in the mirror weren’t just from getting older.

How the Patient Fared

The patient had surgery to remove the tumor nine months ago and now feels great. She had attributed so many of her symptoms – the fatigue, the sweatiness, the pain in virtually every joint — to getting older and heavier. But it’s clear now that they were caused by the hormonal excess.

The bony changes will be with her forever (goodbye, size 8 feet). But she’s happy that she can see her ankles once more and will finally be able to lose some weight.