A 27-year-old Asian man presents to the Emergency Department after coughing up a large amount of blood, which has never happened before. He has a history of oral and genital ulcerations that were diagnosed as herpes, but the lesions have never responded to antivirals. His family history is noncontributory, he does not smoke or use illicit drugs, and he has not traveled recently. He lives in an urban area and has never been imprisoned. On review of systems, he endorses some vision changes and occasional joint pain, but denies any recent illnesses, weight loss, night sweats, cough (prior to the hemoptysis), or hematuria. His examination is significant for oral and genital ulcerations that are painful to palpation, and examination of the eyes shows ciliary flush with some floating debris in the anterior chamber. His laboratory values show a normal BUN and creatinine.
Which of the following is the most likely diagnosis?a. Granulomatosis with polyangiitis
Behçet disease. The point of this question is to test the reader’s understanding of the differential diagnosis of hemoptysis. Anything that damages the pulmonary vasculature can present with hemoptysis. Important high yield causes that you should always consider are tuberculosis and lung cancer. Other pulmonary causes include bronchitis, bronchiectasis, and pneumonia. Infectious etiologies include lung abscesses, fungal infections such as coccidioidomycosis and aspergillomas, and any cause of pneumonia. Direct damage of the vasculature from a pulmonary embolism or vasculitis can cause massive hemoptysis. Cardiac disease causes vessel damage from elevated pressures within the pulmonary vasculature, and common causes include CHF and mitral stenosis. GI bleeding can sometimes be mistaken for hemoptysis (e.g., Mallory–Weiss tears in the gastroesophageal junction from severe retching). Behçet disease is a vasculitis that can affect any vessel size and is more common in people from areas along the ancient Silk Road (highest incidence is in Turkey). Common manifestations include oral and genital ulcerations, uveitis, venous thrombosis, arterial aneurysm and hemorrhage (e.g., hemoptysis), skin changes, joint pain, and neurologic changes. The diagnosis is made based on clinical findings, and treatment is with colchicine or immunosuppressants. Even if the reader was unfamiliar with this diagnosis, they could have used the process of elimination to make a good guess.
(A) Granulomatosis with polyangiitis (Wegener) and Goodpasture syndrome both affect the kidneys and lungs, but this patient does not have renal involvement. (C, D) Bronchiectasis and pulmonary embolism are not suggested by the history; in bronchiectasis, look for a history of recurrent sinopulmonary disease (cystic fibrosis), and for pulmonary embolism look for thrombotic risk factors (recent travel, surgery, OCPs, etc.). (E) The patient is young with no smoking history and no symptoms of weight loss or night sweats; therefore lung cancer is unlikely. There are no findings of CHF on examination (e.g., jugular venous distention, pedal edema). Tuberculosis is suggested by sick exposures, travel to an endemic area, a history of imprisonment, and symptoms of cough and night sweats. This patient lives in an urban environment, and Coccidioides immitis is found in desert regions (Arizona and the central valley of California).