Wednesday, April 27, 2011

Think Like a Doctor: A Litany of Symptoms Solved! -

Thank you to Dr. Sanders and the New York Times for shining a spotlight on Cushing's patients and offering a different perspective for their family and friends who struggle to support them. -m

EXCERPT:  With a disease like Cushing’s, our specialist approach to medicine makes us seem like the proverbial blind men examining the elephant. Each specialist can identify what he is seeing, and yet the whole picture will be missed.

Most of the time, that kind of piecemeal medicine works just fine. But the problem is that the cases in which a different approach is required often are tough to distinguish from the bread-and-butter stuff we see every day.

April 21, 2011, 8:27 AM

Think Like a Doctor: A Litany of Symptoms Solved!

On Wednesday I challenged readers to solve a complicated case of a 76-year-old woman who became physically and mentally debilitated over a matter of months.

More than 500 readers weighed in with diagnoses that included porphyria, thrombotic thrombocytopenic purpura and lupus. As of late Wednesday night, 15 readers had come up with the right diagnosis. And the winning answer is:

Diagnosis: Cushing’s syndrome.

The first answer came early. At 12:54 a.m. Eastern time, Dr. Elizabeth Neary, a pediatrician in Madison, Wis., was the first reader to put all the patient’s symptoms together and reach the correct diagnosis.

The wide range of complaints that characterize Cushing’s syndrome was first described by Dr. Harvey Cushing in 1932. In this disease, the adrenal glands churn out too much cortisol, an essential hormone involved in our body’s response to stress. Cortisol helps maintain blood pressure, reduces the immune system’s inflammatory response and increases blood sugar levels — all vital processes for helping our bodies cope with biological and environmental stress.

But long-term exposure to high levels of cortisol can cause osteoporosis, diabetes, high blood pressure, muscle weakness, memory loss and psychiatric disease. It causes the skin to thin and weaken, making it susceptible to bruises that are often dark and dramatic looking. The lesions on this patient’s arms and legs were signs of this.

Cushing’s syndrome is unusual, but a milder version of the disease can be seen in patients who use steroid hormones like prednisone for the treatment of asthma, rheumatoid arthritis or other inflammatory diseases. However, in this case, the syndrome is believed to have been caused by a tiny tumor that was triggering the constant release of high doses of cortisol.

How the Diagnosis Was Made:

When the patient and her two daughters arrived at Waterbury Hospital, Dr. Rachel Lovins met them in the emergency room. She had been introduced to their mother some years earlier, but now she didn’t recognize the woman who sat before her in the wheelchair.

She had gained a lot of weight, her face was much rounder than Dr. Lovins remembered, and her hair, which had been dark and curly, was thin, gray and uncombed. Over the past year or so, Dr. Lovins had heard her friends talk about their mother’s weakness and decline. Seeing her now, it was clear that her illness had taken its toll. Dr. Lovins excused herself to allow the patient to change into her hospital gown. She would see her again once she had been evaluated in the E.R. and admitted to the hospital.

When she returned later, she stood in the doorway and watched as Dr. Chris Mikos, an E.R. physician, lifted the woman’s hospital gown to examine her abdomen. When he did that, Dr. Lovins saw that the woman had red, almost purple stretch marks on her abdomen.

Suddenly the whole case made sense. Dr. Lovins realized the patient might have Cushing’s syndrome. These stretch marks, known as striae, are the result of the thinning of the skin caused by the excess cortisol. It’s a classic finding in Cushing’s. The patient’s primary doctor may not have seen these marks because she probably didn’t have this debilitated elderly woman change into a gown for every visit.

The test used to look for Cushing’s syndrome is called the dexamethasone suppression test. In this test, you give the patient a dose of a steroid hormone, dexamethasone. If the patient has a normal stress hormone system, then the amount of cortisol in the body will drop dramatically as the body reacts to the steroid and begins to suppress its own cortisol production. A normal patient would post a reading of less than five when it’s measured several hours into the test. This patient’s cortisol was eight times that.

Most of the time, Cushing’s syndrome is caused by a tumor in the pituitary gland in the brain, which in turn causes the adrenal gland to overproduce cortisol. In these cases, surgical removal of the tumor will cure Cushing’s.

But in this case, no tumor was found in the pituitary or elsewhere in the patient’s body. Even so, her doctors still believe that a tumor is triggering the excessive cortisol release, but the tumor is too small to locate.

This patient was started on a medication that prevents the overproduction of cortisol, but she had to stop because of side effects. She is waiting to start the next medicine. If that fails, she will have surgery to remove her adrenal glands. When I saw her last she was doing better but wondered out loud whether she would ever walk again.

Why It Was a Difficult Case:

Because cortisol is a hormone that affects every part of the body, the effects of Cushing’s syndrome are wide ranging, and there is no single symptom that announces that a patient has the disease.

Some of this patient’s complaints were pretty common for a woman her age. She’d gained weight. She was tired. She was depressed. She had high blood pressure. She had cataracts. She had swelling in her legs. All of these are symptoms of Cushing’s, but they are also common in patients without Cushing’s.

On the other hand, she had some unusual problems as well. Her muscles were weak. She had a high white blood cell count. She’d had a gastrointestinal bleed. Still, it wasn’t until you put it all together that it became clear that this woman’s many health problems were all related to Cushing’s.

The patient’s oldest daughter sent an e-mail to her friends telling the story of her mother’s ordeal and of her own frustration in pursuing this unifying diagnosis.

We were told that her psychological state, her neurological problem, her circulation issues and her excessive bleeding were an unrelated bunch of unfortunate circumstances conspiring to make this woman ill. “It happens when you are old,” we were told more than once.

With a disease like Cushing’s, our specialist approach to medicine makes us seem like the proverbial blind men examining the elephant. Each specialist can identify what he is seeing, and yet the whole picture will be missed.

Most of the time, that kind of piecemeal medicine works just fine. But the problem is that the cases in which a different approach is required often are tough to distinguish from the bread-and-butter stuff we see every day.

Readers who come to this column already know it will highlight an unusual case, and as a result, you are ready to take on all the exotic possibilities. Because of that, you are way ahead of the doctor who has to figure out which patient, out of all the patients she’s seen that day, needs something special. That recognition is the start of diagnosis.

Think Like a Doctor: A Litany of Symptoms -

This is so much fun -and so important to get the word out. Plus, this shows how much a patient suffers while them doctors fail to diagnose and treat the disease. SuRpRiSe -- the symptoms don't get better.

April 20, 2011, 12:02 AM

Think Like a Doctor: A Litany of Symptoms

Apr. 21 Update | Thanks for all your diagnosis submissions! To find the answer to the medical mystery, see “Think Like a Doctor: A Litany of Symptoms Solved!”

The Challenge: Can you solve a medical mystery involving a once healthy older woman who becomes physically and mentally debilitated in a matter of months?

Last month, the Diagnosis column of The New York Times Magazine asked Well readers to sift through a difficult case and solve a diagnostic riddle. Hundreds responded, and several of you succeeded in solving the mystery.

If you missed out, here’s another chance to play medical detective. Below you’ll find a summary of a new case. The first reader to solve it gets a signed copy of my book, “Every Patient Tells a Story,” along with the satisfaction of knowing you could outdiagnose Gregory House. Let’s get started.

The Presenting Problem:

An otherwise healthy 76-year-old woman with intestinal bleeding and complaints of weakness, fatigue and mood swings.

The Patient’s Story:

A fiercely independent and active 76-year-old woman had spent several years caring for her aged mother, who died at 99. Weeks after her mother’s death, she collapses at home. She was found to have bleeding from a collection of abnormal blood vessels (known as arteriovenous malformations) in her colon. In the months after treatment, her red blood count returned to normal, but she complained of persistent fatigue and weakness. She told her daughters that she was more tired than she’d ever been in her life, calling it “the big emptiness.”

The Doctor’s Exam:

Dr. Susan Wiskowski, a family physician in Hartford, had been the woman’s doctor for several years and knew her well. Until this year, the patient had been in good health for her age, with only a few medical problems: high blood pressure, which was controlled with just one medication; hypothyroidism, treated with Synthroid; and cataracts, which had been surgically repaired.

Because heart disease can manifest as weakness and fatigue, particularly in the elderly, Dr. Wiskowski referred her patient for a cardiac workup. She also referred the woman to a hematologist, to check on a slightly elevated white blood count detected during the bleeding episode.

Meeting With the Specialists:

Cardiology: A stress test suggested that the patient had blockages in the arteries to her heart, but an echocardiogram and cardiac catheterization showed no evidence of heart disease. These last tests revealed a narrowing of one of the heart valves, a condition that was probably longstanding but might have been contributing to her fatigue. Read the cardiologist’s report (July 2010).

Hematology: The hematologist could not identify the cause of the slightly elevated white cell count. All his tests, including a bone marrow biopsy, were unrevealing. Read the hematologist’s letter (July 2010).

The Follow-Up:

A few weeks after the cardiac workup, the patient seemed to have some kind of nervous breakdown, something which she had never experienced before. Despite her complaints of weakness, the woman veered between bursts of activity — endlessly cleaning her house, giving large dinner parties — and weeks of isolation and fatigue. She was sometimes elated, even giddy, telling any one who would listen that she’d found where heaven was located. More recently, she’d started talking about giving away all her possessions. Her daughters called 911, and the woman was taken to the emergency room at St. Francis Hospital in Hartford.


Hematoma: During her hospital visit, doctors discovered an extensive hematoma on the patient’s right groin and leg, which had developed after the cardiac catheterization a month earlier. She was admitted to the hospital.

Bipolar Disorder: A psychiatrist diagnosed bipolar disorder and started the woman on several medications to stabilize her mood. There was some family history of psychiatric illness.

Additional Test Results:

Treatment of the hematoma kept the woman in the hospital for several days, during which her daughters urged doctors to perform an M.R.I. or some other test that might identify the source of their mother’s persistent weakness and deteriorating health.

A neurologist was consulted. He ordered an M.R.I. of the patient’s brain and cervical spine, which was normal. Read the results on the patient’s discharge summary (Aug. 2010).

Nerve conduction studies that looked at the nerves that power the muscles in her arms and legs were abnormal. Based on these tests, the neurologist thought that she had nerve damage, probably caused by a recent viral infection. Read theneurologist’s letter (Sept. 2010) here.

The neurologist referred her to physical therapy, but it didn’t help. Read the neurologist’s assessment (Feb. 2011) here.

The Woman’s Family Intervenes

Frustrated by their mother’s continued decline, her daughters decided to try to intervene once again. They had jointly been appointed their mother’s health care proxy and made an appointment for her to see her primary care doctor. When Dr. Wiskowski entered the exam room, she expected to see her 76-year-old patient. What she found instead were two middle-aged women she’d never met. They introduced themselves as her patient’s daughters. Their mother didn’t want to come, the older daughter told her, because she was too tired and in too much pain. “I saw her last week; she knows what I look like,” she had told her daughters.

They had come in her stead because over the past months they had seen their mother transformed from the dynamic, energetic and competent woman they’d known all their lives to the disabled and sometimes demented person she’d become, battered and baffled by the many problems she’d developed.

Their mother had gained weight and lost hair, and her legs were swollen and painful. After trying a cane, then a walker, she was now in a wheelchair. The oldest daughter, who lived in California and hadn’t seen her mother in several months, told the doctor she barely recognized her mother this visit. Her mother’s ebullient personality had changed as well, and she was now making plans to move to a nursing home. Was it possible that all their mother’s problems were related?

The doctor listened but told them that she thought all their mother’s symptoms could be explained by the existing diagnoses. Sometimes a combination of illnesses can conspire to make the patient appear very sick, she added.

The daughters considered this conclusion sadly. The implication was clear. There was nothing more to be done. As the daughters prepared to leave, one of them showed the doctor cellphone photographs of lesions on the back of their mother’s hand and arm (see photographs at right). Dr. Wiskowski noted that the patient didn’t have these lesions a week earlier when she had last examined her. She told the daughters their mother should be taken to the emergency room to be fully evaluated.

Meeting With the Hospitalist:

Instead of going back to the same hospital where their mother had been cared for in the past, the daughters decided to take her to the emergency department of a different hospital in a town nearby where a doctor they knew practiced. Dr. Rachel Lovins ran the hospitalist program at Waterbury Hospital in Waterbury, Conn. (Hospitalists are members of a new specialty of doctors who specialize in caring for patients while they are in the hospital.) Dr. Wiskowski sent over key parts of the patient’s work-up to aid the doctor. This included reports from the specialists, a list of the patient’s medical problems (April 2010) andlaboratory test results (Feb. 2011).

The Challenge: Can you figure out what’s going on with this patient with weakness, psychiatric symptoms and these unusual lesions on her arms and hands?

Rules and Regulations: Post your questions and comments for Dr. Sanders in the Comments section, below. Dr. Sanders will be responding to select questions and comments throughout the day and into the evening. The correct answer to the case will be posted the following day in a separate posting on the Well blog. Select questions and comments from readers may also be included in print form in a coming issue of The New York Times Magazine.

The first reader to identify the correct diagnosis wins a signed copy of Dr. Sanders’s book “Every Patient Tells a Story” (Broadway Books). We will contact you if you are the prizewinner. Readers who enter their solutions on The New York Times Facebook page are not eligible to be considered in the contest pool; please enter your submissions in the Comments box below.

Push to spur more drugs for deadly rare diseases

I want my government to spend money helping its citizens. I hope to see more of these partnerships with the public and private sectors. The world will only get better this way.

- m


Push to spur more drugs for deadly rare diseases
1 day ago

WASHINGTON (AP) — Every other week, 7-year-old twins Addison and Cassidy Hempel have an experimental medicine injected into their spines in hopes of battling a rare, fatal disease.

And it's their mom who made that possible.