Improving Diagnosis in Health Care (2015)

BOX D-1
Examples of Diagnostic Error

Lack of appreciation for significant elements of the patient’s history and physical exam led to a missed pulmonary embolism

A 33-year-old obese patient with remote history of asthma, and on oral contraceptives, presented to her primary care clinician with a three-day complaint of right thigh pain, swelling, and red streaking on her skin. On exam, her right inguinal lymph nodes were enlarged and antibiotics were prescribed. Three days later, she returned with complaint of new onset shortness of breath, chest pain, and rapid heart rate. The patient had diminished breath sounds. Her physician thought she was having an asthma flare and advised her to continue antibiotics and asthma medications. Later the same day, emergency personnel were called to the patient’s home after she fell. She was brought to a local Emergency Department where she quickly decompensated and died. Autopsy revealed a large pulmonary thromboembolism.

SOURCE: CRICO, 2014. Reprinted with permission from CRICO/Risk Management Foundation of the Harvard Medical Institutions.

A misread X-ray of patient with pneumonia led to respiratory failure and death

A 55-year-old male was diagnosed by his primary care clinician with sinusitis and prescribed an antibiotic. Six days later, he was evaluated in an urgent care clinic for shortness of breath, labored breathing, extreme fatigue, and chest pain with cough. The patient had a temperature, a fast heart rate, and low oxygen saturation. After he was treated with an aerosolized nebulizer his oxygen saturation improved. Based on her negative interpretation of a chest X-ray, the urgent care clinician diagnosed a viral [upper respiratory infection] and instructed the patient to see his family doctor the next day. Two days later, the X-ray was read by a radiologist with impression of pneumonia. The clinic called the patient and instructed him to go to his local Emergency Department [ED] for evaluation and treatment. Before he could get to the ED, the patient died of respiratory failure associated with pneumonia.

SOURCE: CRICO, 2014. Reprinted with permission from CRICO/Risk Management Foundation of the Harvard Medical Institutions.

Multiple missteps in the referral process preceded patient’s death from cardiac failure

A 51-year-old female with a history of attention deficit disorder and hyperlipidemia had been treated by her primary care physician for 14 years. Her high cholesterol was treated with medications and she was otherwise asymptomatic. Due to a family history of cardiac disease, the patient requested a cardiology referral for evaluation. Her [primary care provider] ordered the referral and a stress test. The office reports sending the referral information to the patient, however, the patient did not receive it. After the patient called the practice multiple times, a referral was scheduled (three months after initial request). On the day she was to have her cardiology appointment, the patient died. Her death was attributed to significant coronary artery disease, with hyperlipidemia noted.

SOURCE: CRICO, 2014. Reprinted with permission from CRICO/Risk Management Foundation of the Harvard Medical Institutions.

Radiology results not communicated

Mr. J, a patient with severe degenerative joint disease who is cared for by a rural physician, is referred to an orthopedist at an urban center. He receives a chest x-ray as part of the preoperative evaluation for knee replacement. The chest x-ray shows a mass, and his knee surgery is cancelled. The orthopedic surgeon is on vacation the following month, and the radiology report is never sent to the primary care physician. Mr. J follows up three months later with his primary care physician, who learns of the chest x-ray from Mr. J. He is found to have a primary lung cancer, which is successfully removed with surgery.

SOURCE: Sarkar et al., 2009. © Joint Commission Resources: Joint Commission Journal on Quality and Patient Safety. Oakbrook Terrace, IL: Joint Commission on Accreditation of Healthcare Organizations (2009), 35(7) (378). Case study. Reprinted with permission.

Poor care coordination and recognition of medication-related symptoms

Mr. F, who has diabetes, hypertension, and heart failure, sees a primary care physician, an endocrinologist, and a cardiologist. All three adjust his medications. When he presents for a scheduled primary care visit, he does not have his medicines, so the primary care physician does not have an accurate accounting of Mr. F’s current drug regimen. Also, Mr. F did not submit to laboratory tests as requested at his prior primary care visit. His daughter, who cares for him, states that his endocrinologist had ordered laboratory tests the prior month, so she thought he did not need any more blood drawn. He reports feeling generally weak and unwell, so his primary care physician orders laboratory tests done the same day, and he is found to have dangerously low serum sodium.

SOURCE: Sarkar et al., 2009. © Joint Commission Resources: Joint Commission Journal on Quality and Patient Safety. Oakbrook Terrace, IL: Joint Commission on Accreditation of Healthcare Organizations (2009), 35(7) (378–379). Case study. Reprinted with permission.

Diagnostic failure due to intuitive biases

A 28-year-old female patient is sent to an emergency department from a nearby addictions treatment facility. Her chief complaints are anxiety and chest pain that have been going on for about a week. She is concerned that she may have a heart problem. An electrocardiogram is routinely done at triage. The emergency physician who signs up to see the patient is well known for his views on “addicts” and others with “self-inflicted” problems who tie up busy emergency departments. When he goes to see the patient, he is informed by the nurse that she has gone for a cigarette. He appears angry, and verbally expresses his irritation to the nurse. He reviews the patient’s electrocardiogram, which is normal.

When the patient returns, he admonishes her for wasting his time and, after a cursory examination, informs her she has nothing wrong with her heart and discharges her with the advice that she should quit smoking. His discharge

diagnosis is “anxiety state.” The patient is returned to the addictions centre, where she continues to complain of chest pain but is reassured that she has a normal cardiogram and has been “medically cleared” by the emergency department. Later in the evening, she suffers a cardiac arrest from which she cannot be resuscitated. At autopsy, multiple small emboli are evident in both lungs, with bilateral massive pulmonary saddle emboli.

SOURCE: Croskerry, 2012. Reprinted, with permission, from P. Croskerry 2012. Copyright 2012 by Longwoods Publishing.

Cognitive failures lead to insufficient search

A 21-year-old man is brought to a trauma center by ambulance. He has been stabbed multiple times in the arms, chest, and head. He is in no significant distress. He is inebriated but cooperative. He has no dyspnea or shortness of breath; air entry is equal in both lungs; oxygen saturation, blood pressure, and pulse are all within normal limits.

The chest laceration over his left scapula is deep but on exploration does not appear to penetrate the chest cavity. Nevertheless, there is concern that the chest cavity and major vessels may have been penetrated. Ultrasonography shows no free fluid in the chest; a chest film appears normal, with no pneumothorax; and an abdominal series is normal, with no free air. There is considerable discussion between the resident and the attending physician regarding the management of posterior chest stab wounds, but eventually agreement is reached that computed tomography (CT) of the chest is not indicated. The remaining lacerations are cleaned and sutured, and the patient is discharged home in the company of his friend.

Five days later, he presents to a different hospital reporting vomiting, blurred vision, and difficulty concentrating. A CT of his head reveals the track of a knife wound penetrating the skull and several inches into the brain.

SOURCE: Croskerry, 2013. From New England Journal of Medicine. P. Croskerry. From mindless to mindful practice—Cognitive bias and clinical decision making. 368(26):2445–2448. 2013. Massachusetts Medical Society. Reprinted with permission from Massachusetts Medical Society.

Incomplete patient history

A 45-year-old woman presents to the emergency department in an agitated state. She is holding a large empty bottle of aspirin and says that she has taken all of the pills a few hours ago to ‘end it all’. Her breathing and heart rate are fast; she is nauseated and complains of ringing in her ears. Blood is drawn for testing that includes a toxic screen, intravenous lines are started and treatment is begun for salicylate poisoning. Within an hour, the laboratory reports that her salicylate level is at a toxic level.

Although her condition initially showed some marginal improvement, when she is reassessed by the emergency physician after two hours, the impression is that she is not progressing as well as expected. She now appears confused and her monitor shows a marked tachycardia. While the physician is reflecting on her

condition, the patient’s partner comes to the emergency department to enquire how she is doing. The physician tells him that she is not doing as well as expected but, given that she has taken a major overdose of salicylate, she may take a little time to stabilise. Her partner pulls an empty bottle of a tricyclic antidepressant out of his pocket and says that he found it on the bedroom floor when he got home from work. He wonders if this is important.

Shortly afterwards, the patient becomes hypotensive, with the monitor showing an intraventricular conduction delay with wide QRS, first-degree block and a prolonged QT interval; she then has seizures. She is intubated and transferred to the intensive care unit.

SOURCE: Croskerry and Nimmo, 2011. Reprinted, with permission, from Croskerry P, Nimmo G. Journal of the Royal College of Physicians of Edinburgh 2011; 41(2): 155–162. Copyright 2011 Journal of the Royal College of Physicians of Edinburgh.

Poor management plan and bias

A 32-year-old female presents to the emergency department with complaints of abdominal pain and vomiting. She is black, obese, schizophrenic and has poor personal hygiene. She does not communicate very well. She is treated with intravenous fluids, analgesics and anti-emetics. Her blood work-up and urinalysis are within normal limits.

A diagnosis of gastroenteritis is made and she is mobilised for discharge, but she begins to vomit again. It is getting late in the evening and the emergency physician decides to keep her overnight and arranges an ultrasound of her abdomen and repeat blood work for the morning.

The following morning, the ultrasound is reported as normal, but her white cell count has gone up to 13,000/mm3. Abdominal X-rays are done and appear normal. Her condition does not improve through the day and in the late afternoon a computed tomography exam of her abdomen reveals a four-inch-long metallic/plastic foreign body, a hair clasp, in her stomach. This is removed several hours later by endoscopy. There were four handovers during the course of 28 hours in the emergency department before the correct diagnosis was made.

SOURCE: Croskerry and Nimmo, 2011. Reprinted, with permission, from Croskerry P, Nimmo G. Journal of the Royal College of Physicians of Edinburgh 2011; 41(2): 155–162. Copyright 2011 Journal of the Royal College of Physicians of Edinburgh.

Rushed communication leads to error

The doctor informs the patient to refrain from aspirin ingestion prior to a particular laboratory test involving platelets. The consultation with the patient is rushed, and the physician fails to explain to the patient that aspirin is present in many medicines and that the patient should determine whether any over-the-counter product contains aspirin prior to using it. When the assay is performed, the result is incorrect. When the patient is asked about aspirin ingestion, she reports she has taken Alka-Seltzer within the past 24 hours, inadvertently ingesting an over-

the-counter product containing aspirin. This necessitates a repeat performance of a complicated assay.

SOURCE: Laposata, 2010. Republished with permission of Demos Medical Publishing, from Coagulation disorders: Quality in laboratory diagnosis, M. Laposata, 2010; permission conveyed through Copyright Clearance Center.

Poor emergency department diagnostic test tracking and reporting

A young woman with a complicated medical history, including systemic lupus erythematosis (lupus), presented to the ED with severe ankle pain, thought to be a partial Achilles tendon tear. She also had ulcerations of both of her palms. The physician performed an examination and ordered routine blood work and blood cultures. The gram stain showed gram + cocci in clusters; the final blood culture report revealed staphylococcus aureus. The CBC with differential and urinalysis were abnormal. The lab called the results to the ED, but a new charge nurse skipped the physician’s review and the standard ED alert system. The patient went home, became septic, endured a prolonged hospital stay, and is now considered totally disabled.

SOURCE: MagMutual, 2014. Reprinted, with permission, from MagMutual Insurance Company, Atlanta, GA, 2015.

Diagnosis that is beyond current medical knowledge

Although alarmed at the sight of a red stream instead of straw-colored urine, Dunham Aurelius didn’t realize that he needed to see a doctor. An endurance runner and triathlete in his early 20s, he brushed off the physical discomfort and reasoned that he may have pushed too hard on a long Sunday run. When the bleeding persisted, Aurelius made an appointment with a urologist, a specialist in diseases of the urinary tract and reproductive organs. The doctor diagnosed a

kidney stone, the first of many that Aurelius would endure throughout his 20s and 30s. He became an all-too-frequent patient of urologists, as well as of endocrinologists and nephrologists, who specialize, respectively, in diseases of endocrine glands and kidneys.

Aurelius’ kidneys formed stones at a size and frequency that surprised his doctors. He has passed more than 15 stones; one calcium phosphate mass in his kidney measured three centimeters. His doctors detected high vitamin D levels in his blood but they weren’t sure of its significance or why he developed these stones.

Aurelius expelled many kidney stones without recourse to medical intervention. Once, he brought a bag of stones to his urologist, who hailed him as an ultimate fighter of the kidney stone world. Some stones, however, required painful and sometimes dangerous procedures. The problem worsened to the point that Aurelius was having multiple surgeries a year. He started to become desperate for a diagnosis at age 38, almost 20 years after his first stone.

In 2008, Aurelius’ endocrinologist at the University of New Mexico Health Sciences Center learned about the Undiagnosed Diseases Program (UDP), a new NIH program. The UDP was recruiting patients whose conditions were unexplained despite doctors’ best efforts to make a diagnosis. The new program would accept referrals if there were some clue for a multidisciplinary team of doctors at NIH to follow up. In Aurelius’ case, the clue was his high vitamin D levels.

In 2009, he became the 37th of 75 patients evaluated in the first year of the UDP, during a week-long visit to the NIH Clinical Center. Through genomic analysis conducted in subsequent months, NIH doctors ultimately discovered that mutations in Aurelius’ DNA caused loss in the function of an enzyme called CYP24A1, which results in high vitamin D levels. With his wife’s help, Aurelius made dietary changes that have brought about vast improvements in his condition).

SOURCE: MacDougall, 2013.