Differential Diagnosis for Haemoptysis in a 67-year-old Woman
Given the clinical presentation and investigations, the differential diagnoses can be categorized as follows:
- Single most likely diagnosis
- Idiopathic Pulmonary Hemosiderosis: This condition is characterized by recurrent episodes of haemoptysis and diffuse alveolar hemorrhage without an identifiable cause. The lack of systemic symptoms, negative vasculitic screen, and absence of a clear source of bleeding on bronchoscopy make this a plausible diagnosis.
- Other Likely diagnoses
- Goodpasture's Syndrome: Although the vasculitic screen is negative, Goodpasture's syndrome (anti-GBM disease) can present with diffuse alveolar hemorrhage and should be considered, especially if renal involvement is suspected. Further testing for anti-GBM antibodies might be warranted.
- ANCA-associated Vasculitis: Despite a negative initial vasculitic screen, ANCA-associated vasculitis (e.g., Wegener's granulomatosis) can sometimes present with atypical or negative serology. Clinical suspicion should remain high if other systemic symptoms develop or if there's a high index of suspicion based on other findings.
- Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
- Pulmonary Embolism with Infarction: Although the CTPA did not show a PE, it's crucial to consider that small peripheral emboli might not be visible on CT. If there's a high clinical suspicion, further diagnostic workup might be necessary.
- Malignancy: Even though the patient denies weight loss and other systemic symptoms, malignancy (either primary lung cancer or metastatic disease) can cause haemoptysis. A thorough evaluation, including possibly a repeat bronchoscopy or other imaging, might be necessary to rule out malignancy.
- Rare diagnoses
- Mitral Stenosis: This condition can lead to pulmonary venous hypertension and subsequent haemoptysis. Although less likely, it should be considered, especially if there are signs of heart disease on examination or echocardiography.
- Pulmonary Veno-Occlusive Disease (PVOD): A rare condition characterized by occlusion of the pulmonary venules, leading to pulmonary hypertension and potentially haemoptysis. Diagnosis can be challenging and might require a lung biopsy for confirmation.
- Trauma or Factitious Causes: Although unlikely, factitious disorder (Munchausen syndrome) or self-induced trauma could be considered if the clinical picture does not fit with other diagnoses and there's suspicion of manipulation of samples or fabrication of symptoms.
Next Steps in Management
- Further Diagnostic Testing: Consider repeating or expanding the vasculitic screen, including tests for anti-GBM antibodies and ANCA. Echocardiography to evaluate for mitral stenosis or pulmonary hypertension.
- Imaging: Possibly a repeat CTPA or other imaging modalities like MRI if there's a suspicion of conditions not well visualized on CT.
- Bronchoscopy: A repeat procedure might be necessary, especially if new symptoms develop or if there's a high suspicion of malignancy or other conditions not identified on the initial procedure.
- Lung Biopsy: In some cases, a lung biopsy might be necessary for definitive diagnosis, especially for conditions like idiopathic pulmonary hemosiderosis, PVOD, or to rule out malignancy.
- Multidisciplinary Team Discussion: Given the complexity and the need for a comprehensive approach, discussion with a multidisciplinary team including pulmonologists, rheumatologists, radiologists, and possibly oncologists can help guide further management.