A 40-year-old man comes to the office due to exertional dyspnea of 6 months duration. He occasionally expectorates mucoid sputum. He has no fever, night sweats, weight loss, or loss of appetite. The patient's past medical history is otherwise unremarkable. He is married and has 2 children. His father died of nonalcoholic liver cirrhosis at age 58. The patient smoked

Question

A 40-year-old man comes to the office due to exertional dyspnea of 6 months duration.  He occasionally expectorates mucoid sputum.  He has no fever, night sweats, weight loss, or loss of appetite.  The patient's past medical history is otherwise unremarkable.  He is married and has 2 children.  His father died of nonalcoholic liver cirrhosis at age 58.  The patient smoked <1/2 pack of cigarettes daily for 15 years but stopped after becoming short of breath.  He does not use alcohol or recreational drugs.  Vital signs are normal, and pulse oximetry is 97% on room air.  Breath sounds are decreased bilaterally.  There are no crackles or wheezes.  Laboratory results are as follows:  Which of the following is the most likely diagnosis?

Quizplus · Accepted Answer

This young patient with chronic dyspnea on exertion, decreased breath sounds, slight liver function test (LFT) abnormalities, and a family history of cirrhosis likely has alpha-1 antitrypsin (AAT) deficiency. AAT deficiency, a codominant genetic disease, presents similarly to other forms of chronic obstructive pulmonary disease (COPD) with chronic productive cough, dyspnea, wheezing, and recurrent respiratory infections. On average, smokers present in their 30s, a decade earlier than nonsmokers. AAT deficiency can also affect the liver (eg, neonatal hepatitis, hepatocellular carcinoma) and skin (panniculitis). Patients with liver disease may be asymptomatic up until the point of endstage disease, and cirrhosis is the 2nd most common cause of death in these patients. AAT deficiency should be considered in a number of situations, including patients with COPD at a young age (<45), COPD with minimal or no history of smoking, or a family history of emphysema or liver disease. Diagnosis is confirmed with measurement of serum AAT levels and should also include pulmonary function testing. Treatment includes intravenous supplementation with human AAT in addition to bronchodilators and corticosteroids as needed. Individuals with severe lung disease are candidates for lung transplantation, whereas those in hepatic failure can be treated with liver transplantation. < (Choice B) The diagnosis of chronic bronchitis requires 3 consecutive months of productive cough in 2 successive years. In addition, this patient's young age and limited smoking history make this less likely. (Choice C) Adult presentations of cystic fibrosis are more commonly characterized by gastrointestinal, endocrine, or fertility problems. (Choice D) Hemochromatosis can present with fatigue and LFT abnormalities, but it would not explain the patient's pulmonary findings. (Choice E) Pulmonary aspergillosis can cause a chronic, productive cough and dyspnea; however, weight loss is seen in the vast majority of patients and hemoptysis is also common. (Choice F) Wilson disease is due to inappropriate copper processing and results in hepatic, neurologic, and psychiatric symptoms, not pulmonary symptoms. Educational objective: Alpha-1 antitrypsin deficiency is a genetic disease that results in symptoms of chronic obstructive pulmonary disease (COPD) and liver disease. It should be considered in patients who have COPD but lack typical risk factors or who have a family history of emphysema or liver disease. References: Diagnosis and management of patients with a1-antitrypsin (A1AT) deficiency. (http://www.ncbi.nlm.nih.gov/pubmed/22200689) Alpha-1 antitrypsin deficiency. (http://www.ncbi.nlm.nih.gov/pubmed/20303723)

A 40-Year-Old Man Comes to the Office Due to Exertional