Medical Mystery: Why was young, healthy woman having trouble catching her breath?
A healthy woman in her late teens had been experiencing persistent breathlessness with activity for the past two years despite being treated for what was believed to be severe asthma at that time.
A healthy woman in her late teens was referred to see a pulmonologist, Michael Lippmann, as she had been experiencing persistent breathlessness whenever she was active, despite being treated for a diagnosis of severe asthma.
Initially triggered by exercise, her episodes later progressed to the point where she would become breathless after walking up a few flights of stairs. She also experienced recurrent episodes of pneumonia and multiple upper-viral respiratory infections; this was extremely unusual for a fit woman in her late teens. She went to physicians from different specialties, including hematology and endocrinology, all of whom found no abnormalities.
She told pulmonologist Michael Lippmann that she took her medications regularly, demonstrated proper use of her inhaler, and also mentioned she had lost 20 pounds in the previous five months without even trying. This prompted further workup of her lung functions, which revealed that her lungs were behaving as if they were both obstructed and restricted at the same time. This phenomenon is not typically seen in asthma patients but may be seen in a patient who had a one-sided lung transplant or has a severe obstruction of one lung. A high-resolution CT scan was ordered to rule out any underlying conditions that might have been causing her abnormal lung functions. What did the scan reveal?
Solution
The high-resolution CT scan revealed a nodule in her right main airway (bronchus) that was accompanied by inflammatory changes as well as significant amounts of air trapped in her right lung. It is likely that the nodule resulted in a ball-valve effect, which caused the trapped air and the abnormal lung function. The patient was scheduled for a flexible fiber-optic bronchoscope (FOB) procedure, during which an endoscope is placed down the windpipe to look at the bronchi of the lungs, to better identify the location of the nodule and determine its nature and possible treatment.
During the FOB, the tumor’s size was reduced as much as possible to open the airway for cough and clearance of secretions. In additional, a sample was taken of the nodule and sent to the lab for further evaluation. Attending thoracic surgeon Nathaniel Evans III determined that the woman was an appropriate surgical candidate.
She subsequently underwent surgery to remove the section of the lung and bronchus that contained the nodule. She recovered over the next few days and was discharged from the hospital.
Meanwhile, the nodule was examined by a pathologist and was found to be a carcinoid tumor, a type of slow-growing cancer often found in the digestive tract or lungs.
Carcinoid tumors are classified as neuroendocrine tumors (NETs). Lung NETs are the most common primary lung nodule found in children, typically presenting in late adolescence. These tumors are extremely rare (1.49 per 100,000 population per year in the United States) and cause a constellation of symptoms known as carcinoid syndrome. The symptoms can range from flushing, diarrhea and weight-loss to asthma-like symptoms (breathlessness).
These patients are often misdiagnosed and typically have to go through a series of procedures as well as imaging to be diagnosed, staged and treated. Based on the staging of these tumors, they are appropriately managed either by medications or surgery.
Following the removal of the woman’s carcinoid tumor, she was essentially cured without the need for medications. She does, however, need CT imaging for surveillance for the rest of her life to watch out for any new tumors grow.
A few weeks after being discharged from the hospital, she reported that her breathing was now significantly better.
Elwin Tham is a resident in the department of general surgery at Thomas Jefferson University Hospital and Sung Whang is a nurse practitioner in the Thoracic Surgery Program at Thomas Jefferson University Hospital.