Question of the week
Treating dyspnea in a non-smoker presents a unique challenge, especially when symptoms progress without traditional environmental or lifestyle risk factors. The following case features a middle-aged adult with unexplained shortness of breath and emphasizes the value of a multidisciplinary approach to unexplained respiratory symptoms.
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A 48-year-old female with no history of smoking presents with a six-month history of progressive exertional dyspnea and non-productive cough. She denies chest pain, hemoptysis, or recent travel. Physical examination reveals digital clubbing and fine inspiratory crackles at both lung bases. Pulmonary function tests show a restrictive pattern with reduced DLCO.
Questions for consult
1. What is the differential diagnosis, and which diagnostic tests are most appropriate to confirm the underlying cause?
2. What is the potential role of lung biopsy in this case?
Consults
Key takeaways about treating dyspnea in a non-smoker:
- Begin with CT chest and autoimmune serologies
These are essential first-line investigations to assess for interstitial lung disease, malignancy, or autoimmune conditions in a non-smoker who presents with progressive dyspnea. - Escalate to biopsy or advanced imaging if initial workup is inconclusive
If CT and labs don’t yield a diagnosis, consider lung biopsy, PET scan, or echocardiography to evaluate for malignancy, pulmonary hypertension, or cardiac causes. - Maintain a broad differential across systems
Consider hematologic, oncologic, and cardiopulmonary causes such as anemia, pulmonary embolism, A1AT deficiency, and COPD. Also consider vaccination status, medication effects, and lifestyle factors when pulmonary findings are limited.
Pulmonology
"Could be an infectious problem or autoimmune problem with interstitial lung disease, heart failure, or pulmonary hypertension. Would need to get a CT chest for further evaluation. If evidence of ILD changes, would need a lab workup. If not revealing, could consider a biopsy to get a definitive diagnosis. If no significant ILD findings, then I would get ECHO for further evaluation. Would also get 6 MWT and overnight trend to evaluate for O2 needs."
Family Practice
"Interstitial lung disease, pulmonary fibrosis, autoimmune/connective tissue disease, sarcoidosis. The next step is a CT of the chest and autoimmune serology. If imaging and serology remain inconclusive, a lung biopsy may be needed."
Family Practice
"Lung cancer would be my first thought. I would add CT chest, perhaps followed by a PET scan, and referral to a pulmonologist. A lung biopsy would be absolutely necessary if any abnormality is shown in the scan."
Oncology/Hematology
"The differential diagnosis includes restrictive lung disease, sarcoidosis, lung cancer, pulmonary fibrosis, and COPD.
I would perform a lung biopsy and a bronchoscopy. I would also order autoimmune labs and check for A1AT deficiency."
Obstetrics/Gynecology
"Chest x-ray, then do bloodwork to see if anemic or other blood disorders, check for pulmonary embolism, and wait until results. Encourage vaccinations up to date and annual flu, would discuss possible need for supplemental oxygen if continues to decrease, and exercise and medication-related issues ruled out. "
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