Medical Mystery Solved – A Treacherous Course | NEJM

Summary

Mr. M, a 33-year-old Spanish-speaking man, sought emergency care in Massachusetts with severe symptoms including hemoptysis. Initial tests and broad-spectrum antibiotics were inconclusive. His travel from Mexico and arduous journey raised suspicion of leptospirosis, confirmed by a positive serologic test. Despite multiorgan failure, he fully recovered after a 2-week antibiotic treatment, highlighting the importance of thorough patient history in diagnosing rare diseases.

Takeaways

• 🩺 Building trust is crucial in medicine, especially when gathering patient history for diagnosis.
• 🌐 Language and cultural barriers can complicate medical diagnosis and treatment.
• 🏥 Mr. M's symptoms, including hemoptysis, fever, and respiratory distress, indicated a serious medical condition.
• 🔍 Initial tests showed signs of infection and potential liver damage, but the cause remained unclear.
• 💊 Broad-spectrum antibiotics were administered as part of the initial treatment protocol.
• 🔬 Further tests, including bronchoscopy, helped pinpoint the source of bleeding in the lungs.
• 🌿 The patient's travel history was a critical clue to diagnosing leptospirosis, a disease often associated with exposure to contaminated water or soil.
• 🌡 Leptospirosis can mimic other diseases, making it challenging to diagnose without a detailed patient history.
• 💉 Treatment for leptospirosis typically involves a course of doxycycline or penicillin.
• 🌱 Climate change may increase the prevalence of leptospirosis due to more frequent flooding and extreme weather.
• 📝 The importance of a thorough patient history, including travel and social details, is emphasized for accurate diagnosis and treatment.

Q & A

What was the initial complaint of Mr. M. when he went to the emergency room?

Mr. M. complained of nausea, vomiting, abdominal pain, fever, and coughing up blood for two days.

What language did Mr. M. speak and how did the medical staff communicate with him?

Mr. M. spoke only Spanish, and the medical staff used a medical interpreter to communicate with him.

What was the initial physical examination of Mr. M. revealing?

The initial physical examination showed mild respiratory distress, fever, elevated heart rate, and moderate tenderness in the upper abdomen.

What did the chest radiograph and CT scan reveal about Mr. M.'s condition?

The chest radiograph and CT scan showed multifocal, patchy opacities in both lungs, which could indicate an infectious process.

What was the initial treatment given to Mr. M.?

Mr. M. was initially treated with broad-spectrum antibiotics, including intravenous vancomycin and piperacillin–tazobactam.

What were the abnormal lab results for Mr. M.?

The lab results showed low sodium and potassium, mild kidney injury, abnormal liver tests, a high percentage of neutrophils, mild anemia, low platelet count, and a mildly elevated partial thromboplastin time.

What was the presumptive diagnosis after bronchoscopy and bronchoalveolar lavage?

The increasing hemorrhagic return on bronchoalveolar lavage suggested alveolar hemorrhage, leading to a presumptive diagnosis of diffuse alveolar hemorrhage.

What additional information did the patient's family provide that was crucial for diagnosis?

The patient's family provided information about Mr. M.'s recent journey from Mexico to Massachusetts, which included swimming across the Rio Grande and hiking through the wilderness.

What was the final diagnosis of Mr. M.'s condition?

A serologic test for IgM antibodies to leptospira species was positive, leading to a presumptive diagnosis of leptospirosis.

How is leptospirosis typically transmitted and what are the common reservoirs?

Leptospirosis is transmitted through contact with urine of infected animals or contaminated water or soil, with rodents being the main reservoir.

What was the treatment for Mr. M.'s leptospirosis and how long did he require hospitalization?

Mr. M. was treated with a broad-spectrum antibiotic regimen including doxycycline and penicillin for a total of 2 weeks. He was discharged 6 weeks later after making a full recovery.

Why is obtaining an accurate travel and social history important in cases like Mr. M.'s?

Obtaining an accurate travel and social history is important to pinpoint a possible environmental vector, which is critical to making the diagnosis and guiding the treatment, especially for diseases with symptoms common to other conditions.

Outlines

00:00

🏥 Medical Challenges in Diagnosis: Trust and Communication

The first paragraph narrates the case of Mr. M., a 33-year-old Spanish-speaking man who presented to an emergency room with severe symptoms including hemoptysis. The language barrier and cultural differences made it difficult to gather a complete medical history, which is crucial for accurate diagnosis. Despite the challenges, initial tests were performed revealing abnormalities in liver function and mild kidney injury. The patient was admitted for closer monitoring with a suspected infectious process like pneumonia or aspiration pneumonitis. The paragraph emphasizes the importance of trust and effective communication in medicine, especially when dealing with patients requiring medical interpreters.

05:02

🌡️ Clinical Deterioration and the Diagnostic Journey

The second paragraph details Mr. M.'s rapid clinical decline with signs of multiorgan failure. Despite treatment, his condition worsened, leading to hypoxemia and the need for ICU care. The negative autoimmune tests and the lack of a clear diagnosis prompted a deeper investigation into his travel history, revealing a recent journey from central Mexico that may have exposed him to leptospirosis. A positive serologic test confirmed the diagnosis, and he was treated successfully with antibiotics. The paragraph underscores the critical role of a thorough travel and social history in diagnosing rare diseases and the importance of establishing trust with patients to elicit such information.

Keywords

💡Trust

Trust is a fundamental aspect of the patient-doctor relationship, crucial for patients to feel comfortable sharing their medical history. In the video, building trust is highlighted as essential for obtaining an accurate diagnosis, especially when language and cultural barriers are present. Mr. M.'s case illustrates the difficulty in gathering a complete medical history without trust, which can lead to misdiagnoses or delayed treatment.

💡Hemoptysis

Hemoptysis refers to coughing up blood and is a serious medical condition that can indicate various underlying diseases. In the script, Mr. M.'s hemoptysis is a critical symptom that leads to a series of diagnostic steps and treatments. It is an example of how presenting symptoms can guide medical professionals towards identifying the root cause of a patient's illness.

💡Medical Interpreter

A medical interpreter is a professional who translates medical information between patients and healthcare providers, especially when there is a language barrier. The script mentions the use of a medical interpreter for Mr. M., emphasizing the importance of clear communication in healthcare to ensure accurate diagnosis and treatment. It also hints at the challenges interpreters can face in conveying the nuances of medical dialogue.

💡Leptospirosis

Leptospirosis is a bacterial infection caused by Leptospira species, which can lead to severe lung and kidney damage. The video script describes Mr. M.'s diagnosis of leptospirosis after a positive serologic test, illustrating how a detailed travel history can be crucial for identifying potential exposures to infectious diseases. The case also highlights the importance of considering environmental factors in the diagnosis process.

💡Multiorgan Failure

Multiorgan failure refers to the simultaneous failure of two or more organ systems in the body, which is a life-threatening condition. In the script, Mr. M.'s case progresses to multiorgan failure, affecting his lungs, kidneys, and liver. This keyword is central to understanding the severity of his condition and the urgency of identifying the correct diagnosis and treatment.

💡Bronchoscopy

Bronchoscopy is a medical procedure that involves examining the bronchial tubes and lungs using a bronchoscope. The script mentions bronchoscopy as a diagnostic tool used to identify the source of Mr. M.'s bleeding, demonstrating its role in visualizing and diagnosing lung conditions.

💡Alveolar Hemorrhage

Alveolar hemorrhage is the bleeding into the alveoli, the tiny air sacs in the lungs where oxygen exchange occurs. The script describes the increasing hemorrhagic return during bronchoalveolar lavage as indicative of alveolar hemorrhage, which is a critical step in diagnosing the cause of Mr. M.'s symptoms.

💡ARDS (Acute Respiratory Distress Syndrome)

ARDS is a severe lung condition characterized by widespread inflammation and damage to the alveoli and capillaries, leading to hypoxemia. The video script discusses ARDS as a potential diagnosis for Mr. M., highlighting how it can be a complication of various diseases and the importance of early recognition and treatment.

💡Empirical Antibiotic Therapy

Empirical antibiotic therapy refers to the initial use of antibiotics based on the most likely causes of an infection before definitive diagnostic tests are available. The script mentions that Mr. M. received empirical antibiotic therapy for sepsis and pneumonia, emphasizing the approach healthcare providers take when faced with time-sensitive, life-threatening infections.

💡Travel and Social History

Travel and social history are crucial components of a patient's medical history, as they can provide clues to potential exposures to infectious diseases or environmental hazards. The video script underscores the importance of Mr. M.'s travel history in diagnosing leptospirosis, demonstrating how such information can guide diagnostic and treatment decisions.

💡Confidentiality

Confidentiality in healthcare is the ethical duty to protect patients' personal information and medical history. The script implies that establishing trust and ensuring confidentiality might have encouraged Mr. M. to provide his travel history, which was vital for his diagnosis. This keyword is central to the theme of trust in the patient-doctor relationship.

Highlights

Creating an environment of trust and safety is crucial in medicine.

Building trust is essential for gathering accurate medical history.

Language, legal, and cultural barriers can complicate patient history gathering.

Mr. M. presented with severe symptoms including hemoptysis.

Mr. M. spoke only Spanish, necessitating a medical interpreter.

Initial symptoms included bright red blood, later turning dark like coffee grounds.

Mr. M. had a history of smoking and substantial alcohol consumption.

Physical exam revealed mild respiratory distress and fever.

Chest radiograph and CT showed multifocal, patchy opacities in both lungs.

Broad-spectrum antibiotics were initiated before Covid-19 was a known factor.

Low sodium and potassium levels indicated mild kidney injury.

Liver tests were abnormal, suggesting possible liver damage from alcohol consumption.

Mr. M. was mildly anemic with a low platelet count.

Bronchoscopy revealed bloody secretions in the lungs.

Bronchoalveolar lavage indicated alveolar hemorrhage.

Diffuse alveolar hemorrhage can result from various diseases.

Patient deteriorated with multiorgan failure despite antibiotic therapy.

Additional history revealed Mr. M. had recently traveled from central Mexico.

Leptospirosis was suspected due to potential exposure during travel.

Serologic test for IgM antibodies to leptospira species was positive.

Leptospirosis is caused by spirochetes found in tropical and subtropical areas.

Treatment included a broad-spectrum antibiotic regimen for 2 weeks.

Confirmation of leptospirosis diagnosis was received from the CDC.

Mr. M. made a full recovery and all laboratory tests returned to normal after discharge.

Accurate travel and social history is critical for diagnosing leptospirosis.

Establishing trust with patients can be vital for obtaining accurate medical history.

Transcripts

Creating an environment of trust and safety is an often-underappreciated

aspect of medicine.

Building trust can be crucial to gathering the history needed to make

an accurate diagnosis but may be particularly difficult with patients

requiring a medical interpreter, for whom language, legal considerations,

and cultural barriers — among other factors — may lead to an incomplete history.

This is the true story of one such case.

Mr. M., a 33-year-old man, went to an emergency room in Massachusetts

seeking care after 2 days of nausea, vomiting, abdominal pain,

fever, and coughing up blood.

Mr. M. spoke only Spanish, and through a medical interpreter, he reported no headache,

changes in vision, chest pain, back pain, dysuria, rash, or weight loss.

Initially, the blood he coughed up was bright red, but now it

was dark like coffee grounds.

He also reported a history of smoking 1 pack a day for 15 years,

though he had recently quit, and substantial alcohol consumption.

Mr. M.’s symptoms are concerning.

Coughing up blood, or hemoptysis, can be a life-threatening emergency.

On physical exam, he appeared to be in mild respiratory distress.

He had a fever and an elevated heart rate.

His lung sounds were clear to auscultation.

Bowel sounds were normal; there was moderate tenderness to palpation

throughout the upper abdomen but no enlargement of the liver or spleen.

There was no evidence of hemorrhage on examination of the nose and oropharynx.

The skin appeared normal.

A chest radiograph and subsequent computed tomography of the chest

were obtained, revealing multifocal, patchy opacities in both lungs.

Broad-spectrum antibiotic coverage was initiated, with administration

of intravenous vancomycin and piperacillin–tazobactam.

This was before Covid-19.

Mr. M.’s rapid heart rate, fever, and respiratory distress are worrisome.

The presence of patchy opacities, together with these symptoms, may indicate an

infectious process, and administering antibiotics while performing further

workup is an appropriate next step.

Labs will give us more information.

The sodium and the potassium were low, with evidence of mild kidney injury.

Liver tests were abnormal, including elevations in aspartate aminotransferase,

alanine aminotransferase, and bilirubin.

The white blood cell count was within the normal range, but there was

a high percentage of neutrophils.

Mr. M. was also mildly anemic and his platelet count was low.

The partial thromboplastin time was mildly elevated.

Red blood cells were detected on urinalysis, but no white

cells or casts were observed.

At this point, the patient was given fluids, in addition to antibiotics and

a proton-pump inhibitor, and admitted to the hospital for closer monitoring.

His respiratory symptoms, together with the elevated percentage of neutrophils

and the CT findings, suggest pneumonia or aspiration pneumonitis, a lung injury

caused by inhaling food, liquid, saliva, or gastric contents into the lungs.

Vasculitis, blood vessel inflammation, must also be considered.

The elevated partial thromboplastin time indicates a problem with

coagulation; this and the elevated liver function tests may reflect liver

damage from heavy alcohol consumption.

The abnormal liver function may alternatively reflect a

systemic response to infection.

Electrolyte abnormalities can be seen with vomiting or electrolyte loss in the urine.

An upper gastrointestinal bleed is not ruled out but appears less likely.

A bronchoscopy would be an appropriate next step to characterize the bleeding.

On bronchoscopy, bloody secretions were seen in the posterior segment

of the right upper lobe and the right and left lower lobes of the lungs.

Bronchoalveolar lavage, a procedure sometimes performed during bronchoscopy,

involves instilling sterile normal saline into a section of the lung,

then using suction to collect the fluid sample for further testing.

Increasingly hemorrhagic, or bloody, fluid return with each subsequent

sample of instilled saline is consistent with alveolar hemorrhage.

Vancomycin and piperacillin–tazobactam were continued, and

doxycycline was initiated.

The increasing hemorrhagic return on bronchoalveolar lavage identifies

the alveoli, tiny air sacs in the lungs where oxygenation occurs,

as the source of the bleeding.

Diffuse alveolar hemorrhage can present as a complication of many

diseases, including infectious causes, autoimmune disorders, and acute

respiratory distress syndrome, or ARDS.

ARDS is the result of an acute inflammatory state associated with various

disease processes and is characterized by diffuse damage to alveoli and capillaries

in the lungs causing hypoxemia.

Over the next 12 hours, the patient clinically deteriorated; his

blood pressure fell, and he became increasingly short of breath.

New crackles were noted on lung exam.

His skin became yellow, indicating a high level of bilirubin.

He developed a renal failure and required dialysis.

He became progressively hypoxemic requiring increasing supplemental

oxygen, ultimately requiring endotracheal intubation and transfer to the ICU.

Tests for autoimmune disorders that can cause pulmonary and renal disease,

including Goodpasture’s syndrome and ANCA-associated vasculitis, were negative.

There was still no diagnosis.

What information was the team missing?

Timely response to a decline in clinical status is critical.

Mr. M. showed signs of multiorgan failure including lung, kidney, and liver

injury, despite receiving empirical antibiotic therapy for sepsis and

pneumonia, including doxycycline to cover possible tickborne diseases

and atypical bacterial pneumonia.

The development of crackles on lung examination suggest fluid

building up in the airspaces.

The patient’s family provided additional history.

Mr. M had grown up and lived in a city in

central Mexico, with no travel farther

south or abroad, before arriving in Massachusetts 4 days before admission.

He had entered the country by swimming across the Rio Grande

and hiking through the wilderness.

This information is important.

Mr. M.’s arduous journey likely exposed him to unusual pathogens.

For example, hantavirus and leptospirosis, both of which can lead to pulmonary

hemorrhage and kidney failure, as well as vectorborne diseases, must be considered.

Malaria and dengue, which can present similarly, are

not endemic to the areas

Mr. M. passed through, and are therefore less likely.

A request for a serologic test for IgM antibodies to leptospira species

was positive and a presumptive diagnosis of leptospirosis was made.

Serum samples were sent to the Centers for Disease Control and Prevention,

the CDC, for confirmatory testing.

The organisms that cause leptospirosis are spirochetes, corkscrew-shaped

bacteria, that are commonly seen in tropical and subtropical areas,

including parts of the southern United States, Puerto Rico, and Hawaii.

Livestock, domestic and wild animals, may all harbor disease — though rodents

are the main reservoir, and contact with their urine, or contaminated

water or soil, can spread the disease.

Bodies of fresh water as well as flood waters can harbor the infection, and

Mr. M. may have been exposed while crossing the Rio Grande, a freshwater river.

More cases of leptospira are anticipated with climate change, and associated

extreme precipitation and flooding.

Mr. M. was treated with a broad-spectrum antibiotic regimen that

included doxycycline and a penicillin for a total of 2 weeks.

The treatment of choice for leptospirosis is a 7-day course of

doxycycline in the case of mild disease; penicillin is used in severe cases.

The empirical regimen that he received was considered to be

adequate treatment for leptospirosis.

The use of glucocorticoids is not routinely recommended

as high-quality evidence of their effectiveness is lacking.

Confirmation of the diagnosis was received from the CDC and he was discharged 6 weeks

later having made a full recovery.

At a follow-up visit 1 month later, he appeared healthy and all his

laboratory tests were normal.

Leptospirosis can be difficult to diagnose, in part because many of its

symptoms are common to other diseases, so obtaining a good travel and social history

to help pinpoint a possible environmental vector, is critical to making the

diagnosis and guiding the treatment.

Obtaining an accurate travel and social history from a patient is not

always possible, such as in a patient who is too young to verbalize, or

one who lacks mental competence, but clinicians should recognize the

importance of a careful history, and that patients may withhold vital and

potentially lifesaving information if they do not feel comfortable

confiding in their care provider.

Establishing a sense of confidence and ease in a patient might be one of the most

important steps on their road to recovery.