A 23-year-old man comes to the emergency department due to hemoptysis. The patient has had increasing dyspnea over the past several months. Today, he coughed up approximately 20 mL of blood. He also reports frequent episodes of epistaxis since childhood but has no other medical conditions. The patient does not use tobacco, alcohol, or illicit drugs. Temperature is 37.2 C (99 F), blood pressure is 110/60 mm Hg, and pulse is 98/min. Physical examination shows clear lungs, but there is a faint, continuous bruit on the right infrascapular region. Laboratory evaluation shows microcytic anemia and a normal urinalysis. Chest x-ray reveals several round lung nodules with well-demarcated, smooth borders and no calcifications. Which of the following is the most likely cause of this patient's hemoptysis?

Question

A 23-year-old man comes to the emergency department due to hemoptysis.  The patient has had increasing dyspnea over the past several months.  Today, he coughed up approximately 20 mL of blood.  He also reports frequent episodes of epistaxis since childhood but has no other medical conditions.  The patient does not use tobacco, alcohol, or illicit drugs.  Temperature is 37.2 C (99 F), blood pressure is 110/60 mm Hg, and pulse is 98/min.  Physical examination shows clear lungs, but there is a faint, continuous bruit on the right infrascapular region.  Laboratory evaluation shows microcytic anemia and a normal urinalysis.  Chest x-ray reveals several round lung nodules with well-demarcated, smooth borders and no calcifications.  Which of the following is the most likely cause of this patient's hemoptysis?

Quizplus · Accepted Answer

Explanation: 11ec25c8_d93c_a599_bc81_27af7219f794_MD0003_00 This patient's constellation of hemoptysis, chronic recurrent epistaxis, pulmonary bruit, nodular lung lesions, and anemia is consistent with hereditary hemorrhagic telangiectasia (HHT). HHT is caused by autosomal dominant mutations of genes involved in angiogenesis, leading to mucocutaneous telangiectasias and visceral organ arteriovenous malformations (AVMs): In the upper respiratory tract, nasal telangiectasias account for recurrent epistaxis, often beginning in childhood. Pulmonary AVMs consist of anastomoses between branches of the pulmonary artery and companion pulmonary veins. They usually become symptomatic in early adulthood, presenting with hemoptysis. They appear as multifocal, well-circumscribed, smooth nodules on chest x-ray. Because AVM blood flow is turbulent, a continuous pulmonary bruit may be auscultated over the area (eg, infrascapular murmur in this patient). Gastrointestinal angiodysplasias affect all portions of the digestive tract (predominantly the stomach and small bowel), leading to acute and chronic blood loss, resulting in iron deficiency (microcytic) anemia. Patients frequently require iron repletion and/or red blood cell transfusion. In patients with symptomatic, bleeding pulmonary AVMs (hemoptysis), management involves pulmonary angiography followed by embolization. Some of these findings (epistaxis, hemoptysis, pulmonary nodules) overlap with granulomatosis with polyangiitis (GPA), a necrotizing, small-vessel vasculitis that can affect the respiratory tract, classically presenting as a pulmonary-renal syndrome. However, upper airway involvement includes nasal septal necrosis and destructive sinusitis, lower airway involvement includes diffuse alveolar hemorrhage (crackles, diffuse patchy infiltrates), and renal involvement manifests with microscopic hematuria on urinalysis (not seen in this patient) due to crescentic glomerulonephritis. Because GPA affects capillaries and small vessels, macroscopic (radiographically detectable) AVMs with accompanying bruits are unlikely (Choice C). (Choice B) Hemoptysis is a symptom of pulmonary tuberculosis (TB), but disseminated TB typically presents with constitutional symptoms (eg, fever, cachexia, night sweats) and a miliary pattern (diffuse, innumerable small nodules) on chest x-ray. Recurrent epistaxis is not common. (Choice D) Pulmonary histoplasmosis may occasionally cause hemoptysis and multifocal lung nodules. However, recurrent epistaxis and pulmonary bruits are atypical. On chest x-ray, calcified nodules (healed granulomas) and hilar lymphadenopathy are the most common findings. (Choice E) Septic emboli cause cavitating pulmonary abscesses that can provoke hemoptysis (erosion into nearby vessels), often with purulent sputum. Septic embolization of the lungs is usually associated with right-sided endocarditis; patients appear acutely ill and febrile, with a tricuspid or pulmonic valve diastolic heart murmur rather than a continuous pulmonary bruit. Recurrent epistaxis is not expected. Educational objective: Hereditary hemorrhagic telangiectasia involves arteriovenous malformations (AVMs) in multiple organs. Nasal telangiectasias lead to recurrent epistaxis, and pulmonary AVMs may cause hemoptysis.

A 23-Year-Old Man Comes to the Emergency Department Due to Hemoptysis