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?
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).
An older man with a history of COPD complains of worsening dyspnea and exercise intolerance, even after smoking cessation and an evidence-based pharmacologic regimen. The physician discusses the possibility of adding theophylline to the patient’s chronic regimen.
What potential adverse reaction should the patient be counseled about before starting this medication?
Seizures. Theophylline is a methylxanthine drug that acts as a phosphodiesterase inhibitor and increases bronchodilation. It is not a firstline treatment for COPD or asthma, but it may be an adjunctive treatment in select patients for chronic COPD or asthma. This medication has a narrow therapeutic index and may cause arrhythmias, seizures, and persistent vomiting. It should be used with caution in patients with cardiac disease, hyperthyroidism, peptic ulcer disease, and a seizure disorder, since it can exacerbate these conditions. (A, C) Theophylline may cause tachycardia and hypercalcemia. (B) It does not cause pulmonary fibrosis.
A 24-year-old woman with a history of asthma complains of worsening chest tightness and cough. She currently has an albuterol inhaler that she uses as needed, but says that it does not help very much. She has no other medical problems and takes no other medications. The physical examination is unremarkable.
Which of the following is the most appropriate next step in management?
Education about proper use of inhalers. Education is truly a cornerstone of asthma therapy. Patients should be educated about how to properly use their inhaler, how to monitor their pulmonary function (with peak expiratory flow), and how to recognize and avoid triggers. Proper education about inhalers includes shaking the medication before use, correct positioning, taking a slow deep breath while administering the medication, and holding the medication within the lungs for at least 5 seconds before breathing out. In addition to the importance of technique, patients should also be educated about the timing of use. Patients that know that they will be experiencing a trigger should use the inhaler 10 minutes in advance (e.g., used before exercise). As a general rule, the correct answer on the shelf examination usually follows the principle that the least invasive maneuver should be attempted first, and therefore choices such as obtaining a further history and patient education are usually the right answers. (A) An inhaled corticosteroid is the next step in therapy for worsening symptoms, however an additional medication might be avoided in this patient if she begins to use her inhaler correctly. (B) An inhaled anticholinergic such as ipratropium can be used to improve delivery of the β2 agonist reliever medications and improve bronchodilation, but this is not the next step. (D) Medication compliance and proper technique should be addressed before assuming that the diagnosis of asthma is incorrect.
A 37-year-old Caucasian man presents with a several-month history of intermittent fevers, chills, chest tightness, and shortness of breath. The episodes typically occur on weekends and are most pronounced in the afternoon with improvement by the morning. He is a lawyer in California and does not smoke. He has no pets, has not traveled outside the country recently, and has had no sick contacts over this period. His father recently had a stroke, so the patient helps him manage his farm on the weekends. The patient has a temperature of 37.2°C, blood pressure of 128/84 mmHg, heart rate of 82 beats per minute, respiratory rate of 16 breaths per minute, and oxygen saturation of 99% on room air. His physical examination is unremarkable. A chest x-ray is normal, and the patient elects to undergo lung biopsy that reveals multiple noncaseating interstitial granulomas.
What is the most likely diagnosis?
Hypersensitivity pneumonitis. The temporal relationship of symptoms during weekends, along with the history of visiting a farm on weekends, suggests hypersensitivity pneumonitis as the diagnosis. There are three forms of the disease: acute, subacute, and chronic. This patient likely has the acute form, which presents with symptoms such as fevers, chills, chest tightness, and dyspnea usually 4 to 6 hours after exposure to the organic dust (compared to inorganic dusts in pneumoconiosis). “Farmer’s lung” is one of the most common causes of hypersensitivity pneumonitis and is caused by a variety of agents (e.g., thermophilic actinomycetes). Other important exposures that may cause hypersensitivity pneumonitis include birds and other animals, plant products from lumber milling, and ventilation sources. The most important treatment is avoidance of exposure to the etiologic antigen.
Hypersensitivity pneumonitis is distinct from the other environmental exposures termed pneumoconiosis. Important pneumoconiosis include asbestosis (shipbuilders, textile workers, construction workers with pleural plaques and increased risk of cancer), silicosis (miners, sand blasters with eggshell calcifications and increased risk of TB and cancer), berylliosis (machine and metal workers with a chronic granulomatous disease that mimics sarcoidosis), and coal worker’s pneumoconiosis (nodularity like silicosis with risk for massive pulmonary fibrosis).
(A) This patient has no history of smoking and has intermittent symptoms with a normal chest x-ray, making COPD a less likely diagnosis. (B) Sarcoidosis is a granulomatous disease most commonly affecting the lungs, and noncaseating granulomas would be seen on biopsy; however, the intermittent nature of the symptoms does not fit with sarcoidosis. Bilateral hilar lymphadenopathy is also frequently seen on chest x-ray. (D) Silicosis is caused by inhalation of silica, which is not suggested by this patient’s occupational history. (E) Coccidioidomycosis is caused by the dimorphic fungus Coccidioides immitis. There would be no temporal relationship of the symptoms to weekends with this infection. There is no exposure history that is suggestive of tuberculosis.
A 33-year-old man presents to the hospital complaining of dyspnea. Over the past year he has had increasing shortness of breath while running that limits the distance he can run. In addition, he has a persistent cough that is bothering him, and during the past few days he has had increasing sputum production that was previously white and is now yellow. He has not visited a doctor yet because he does not have medical insurance. The patient denies any significant medical history but has a positive family history of emphysema. He smokes half a pack of cigarettes daily and drinks alcohol moderately. On examination, he has a temperature of 37.9°C, blood pressure of 122/76 mmHg, heart rate of 93 beats per minute, respiratory rate of 24 breaths per minute, and oxygen saturation of 92% on room air. He has scattered wheezes throughout both lung fields with a normal cardiac examination. A chest x-ray shows loss of interstitial lung markings primarily at the lung bases.
Which of the following is the mechanism by which this disease produces liver disease?
Accumulation of abnormal proteins within hepatocytes. For a young patient presenting with symptoms and signs of COPD, always consider α1-antitrypsin deficiency as the cause. Although this autosomal recessive disease usually presents in patients after the age of 40, it can present earlier if the patient is a smoker. α1-Antitrypsin is a protease inhibitor that is produced in the liver and inhibits elastase in the lungs. During acute inflammation, neutrophils release elastase in the lungs that can degrade elastin, an important structural protein that helps tissues maintain their shape. Normally this is inhibited by α1-antitrypsin; however, patients with α1-antitrypsin deficiency will develop panacinar emphysema due to unopposed destruction of elastin in the lung parenchyma. If a patient is exposed to greater than average amounts of toxins (e.g., smoking) that produce lung injury and inflammation, they will develop manifestations of emphysema at a younger age. The clues to the diagnosis in this case are the fact that the patient is very young, has a family history of emphysema, and has emphysema that is predominantly affecting the lung bases (seen on chest x-ray).
Another clue is that the question stem states that liver disease is associated with the condition. Not all mutations cause liver disease, but some genotypes lead to the production of an abnormal protein within hepatocytes that polymerizes and causes cell apoptosis. (A) Therefore, the mechanism of liver disease is different from the mechanism of lung disease, with connective tissue destruction not being a prominent feature. When the liver is biopsied, the cytoplasmic inclusions are periodic acid-Schiff positive. Skin findings (e.g., necrotizing panniculitis) are another extrapulmonary manifestation that may be associated with this disease. Diagnosis of α1-antitrypsin deficiency is made by finding low serum levels of α1-antitrypsin as well as genotyping the patient. Treatments include smoking cessation, IV supplementation of α1-antitrypsin, standard treatments for COPD based on severity of disease, and lung or liver transplant if end-stage disease is present.
(B) Emphysema causes pulmonary vascular destruction, which can lead to increased pulmonary artery pressure and eventually cor pulmonale. Congestive hepatopathy as a result of elevated venous pressure would exacerbate the liver disease, but it is not the primary cause of the liver disease in α1-antitrypsin deficiency. (C) Mallory bodies are cytoplasmic inclusions seen within hepatocytes in alcoholic liver disease. They are not 100% specific to alcoholic liver disease and may rarely be seen on histology in α1-antitrypsin deficiency. However, this is not the best explanation for the mechanism of liver disease in these patients.
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