The rare infection hidden in a 'medical mystery'... and the EHR
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[This] disease can be difficult to recognize because its manifestations can be intermittent and variable depending on parasite species, geographic context, and host immune status.
—Neima Briggs, MD, PhD
This stresses the importance of taking a careful travel history, which is key when looking for a more odd type of diagnosis.
—Suraj Saggar, DO
In early 2022, Louis-Hunter Kean—a previously healthy man in his early 30s—experienced repeated high fevers as well as spleen and liver swelling. By 2023, Kean had seen dozens of specialists at Penn Medicine and had been hospitalized five times in under 6 months. [] []
Was it an infection? An autoimmune disease? Cancer? Rheumatologists, gastroenterologists, hematologist-oncologists, infectious disease clinicians, and internal medicine specialists all had eyes on his case, but no one seemed to know the answer. Kean's case was a medical mystery. [] []
A medical mystery, and a messy EHR
However, according to The Duffy Firm (who are representing Kean’s family) the journey to the diagnosis was fraught with problems. Little things seemed to slip through the cracks: There was no follow-through on recommended tests, and confusing clinical notes allowed new information to be kept hidden in the EHR.[]
At one point, a specialist recommended that a pathogen PCR test be done, per the EHR. The kind of test required (whether for bacteria or fungi) wasn’t specified, however, and the test was never performed.
“No one was paying attention to what the doctor before them did or said,” Kean’s mother told The Philadelphia Inquirer. “They did not put all the pieces together. It was helter-skelter.” []
Related: 8 outrageous malpractice cases—and what physicians can learn from themAn incomplete travel history
Early on in Kean’s illness, an MD asked Kean about his general travel history, which included Turks and Caicos and the state of California, but the medical record failed to document a trip to Italy in 2021, despite the fact that Kean’s fiancée had mentioned it.
Per The Duffy Firm, “Kean’s fiancée, Zara Gaudioso, said she repeatedly told doctors about another trip: In September 2021, about a year before his fevers began, they traveled to Italy for a friend’s wedding in Tuscany.” []
The answer, revealed
By November 2023, Kean’s organs were failing. Desperate, one of Kean’s clinicians reached out to the NIH) for help. The suggestion? Check for rare parasites. Eventually, Kean was diagnosed with visceral leishmaniasis (VL), but by that point, it was too late.
To complicate matters, Kean had previously been given treatments that ultimately compromised his condition. At one point, an EHR note warned physicians about prescribing steroids in the case of a potential infectious disease. It was reportedly overlooked.
His family took him off life support in late November 2023.
What is visceral leishmaniasis—and how is it diagnosed?
“Leishmaniasis is a parasitic infection spread through the bite of an infected sand fly. It typically presents as a cutaneous leishmaniasis, causing skin lesions weeks to months after infection,” Brian Labus, PhD, MPH, Associate Professor in the Department of Epidemiology and Biostatistics at the University of Nevada, tells MDLinx. “Visceral leishmaniasis is a severe form of disease that attacks the internal organs instead of the skin. Visceral leishmaniasis may be difficult to diagnose as it causes vague symptoms like fever, weight loss, and an enlarged spleen.”
Dr. Labus says VL symptoms appear gradually over time. Initially an asymptomatic infection, VL does not cause clinical manifestations until years after exposure, in line with what Kean experienced. If untreated, VL is fatal in 95% of cases. []
Related: A stubborn—yet seemingly-benign—cough leads to a lawsuit. Are you chasing symptoms or digging deeper?Clinical refresher
Symptoms of VL generally include:[]
Fever
Weight loss
A swollen spleen and liver
Abnormal blood counts (including low red blood cells, low white blood cells, and low platelets)
If the symptoms seem vague, it’s because they are.
“These symptoms overlap with many far more common conditions, which is why visceral leishmaniasis is so often missed,” says Ken Perry, MD, FACEP, an emergency medicine physician. “The most important diagnostic clue is a compatible travel or exposure history. In the United States, where the disease is not endemic, clinicians may not consider it unless a patient’s recent travel to an endemic region is clearly documented and emphasized.”
More so, VL can be hard to recognize, as it can be intermittent. It also depends on the parasite species, geographic context, and host immune status, explains Neima Briggs, MD, PhD, an internist and infectious diseases specialist, and an instructor of medicine at Yale. []
“In healthy adults, many infections can be asymptomatic or subclinical, so physicians may not suspect visceral disease when symptoms are nonspecific or develop gradually,” he says.
To diagnose VL, “You would need to have a high level of suspicion,” says Suraj Saggar, DO, Chief of Infectious Disease at Holy Name Medical Center in Teaneck, NJ. “Someone who went to Italy may not be your first thought process.” That’s why you would have to see where in Italy someone had traveled, like in rural areas, where this would be more likely, he says. “This stresses the importance of taking a careful travel history, which is key when looking for a more odd type of diagnosis.”
In sum, says The Duffy Firm, “Kean’s family alleges that critical warning signs were not fully connected and that key diagnostic steps were delayed during his care at Penn Medicine.” []