A 32-year-old man presents with several months of dysphagia to solid foods and a “sticky” feeling in his throat whenever he eats. In addition, he endorses chest pain when he drinks really hot beverages; however, he says that it is transient in nature, only occurs for a few seconds, does not radiate, and then dissipates on its own. Past medical history is insignificant. Esophageal manometry reveals periodic, high-amplitude, nonperistaltic waves.
Which of the following is the likely diagnosis?
Diffuse esophageal spasm. The patient in this question is presenting with chest pain and dysphagia without heartburn. Given the manometry findings of periodic, high-amplitude, nonperistaltic waves, the diagnosis is likely diffuse esophageal spasm. In this condition, the spasms do not propel food effectively to the stomach due to uncoordinated contractions. The cause is unknown; however, many cases seem to result from uncontrolled GERD. It is thought that very cold and hot beverages trigger a spasm. Treatment includes nitroglycerin and calcium channel blockers. (A) Achalasia would have an increased lower esophageal sphincter (LES) tone. (B) Scleroderma is associated with absence of peristaltic waves in the lower two-thirds of the esophagus and a decreased LES tone. (D) Peptic ulcer disease is not associated with dysphagia.
A 61-year-old man with a history of hypertension and congestive heart failure presents with abdominal “bloating” for the last 9 months. He also endorses significant swelling of his feet and timidly mentions that his chest is starting to “resemble that of a female.” He denies alcohol or drug use. Physical examination reveals abdominal ascites, bilateral gynecomastia, and spider angiomata on his torso.
Which of the following is likely the cause of his underlying disorder?
Viral infection. The patient in this question is presenting with signs of chronic liver disease consistent with a diagnosis of cirrhosis. Other symptoms include pedal edema, palmar erythema, caput medusa (Figure below), splenomegaly, testicular atrophy, and nail changes. The most common causes of cirrhosis are alcohol abuse (which the patient denies) and viral hepatitis (specifically hepatitis B or C). (A) Drug toxicity can cause acute liver failure, which causes rapid development of hepatocellular dysfunction. Specifically, coagulopathy and mental status changes (encephalopathy) in a patient without known prior liver disease are seen. (B) Although cirrhotic patients are at an increased risk for developing hepatocellular carcinoma (HCC), the converse does not hold true. (C) Autoimmune conditions are less common causes of cirrhosis.
A 41-year-old woman with a history of diabetes mellitus type 2 presents with a 2-month history of abdominal pain. She reports upper abdominal pain and nausea that is worse 30 to 45 minutes after eating a meal. She denies vomiting, diarrhea, or weight loss. Physical examination including vital signs is unremarkable. Laboratory studies reveal the following.
Which of the following is the best next step in management of this patient?
Empiric 1-month trial with proton pump inhibitor (PPI). The patient in this question is presenting with dyspepsia (characterized by epigastric pain and early satiety). Dyspepsia is a common presentation, and only a minority of patients is diagnosed with an underlying etiology contributing to the dyspepsia. The most common etiologies of dyspepsia are GERD, NSAIDs, peptic ulcer disease, and malignancy. (D) Importantly, if a patient presents with any “alarm symptoms” such as unexplained weight loss, persistent vomiting, blood loss, dysphagia, or family history of gastrointestinal cancer, then he/she should undergo an upper GI endoscopy to evaluate for malignancy. In patients without the “alarm symptoms,” current recommendations are to test for H. pylori in regions where there is a high prevalence of the bacteria and begin treatment with a proton pump inhibitor (PPI). In regions where there is a low prevalence of H. pylori, some physicians will treat empirically with a PPI. The most important thing to note here is that patients who fail either of these treatment options after 4 to 8 weeks should undergo endoscopy. (A, B) Antacids and barium swallow evaluations are not helpful in treating peptic ulcer disease.
A 21-year-old woman presents with a slight yellowing of her skin that her boyfriend noticed yesterday. She feels well and has no other complaints. Her past medical history is unremarkable, but she does report that she has not been eating enough recently due to stress from her upcoming college final examinations. Physical examination is significant only for mild jaundice of the skin. Laboratory results reveal the following.
Which of the following is the most likely diagnosis?
Gilbert syndrome. This type of question is very common on the Internal Medicine shelf examination. Distinguishing the causes of predominantly unconjugated hyperbilirubinemia is high yield for the test. In this patient, we see that her total bilirubin is slightly elevated at 3.1 mg/dL; given that the indirect bilirubin makes up the majority of this (2.9 mg/dL), we know that it is unconjugated hyperbilirubinemia. Elevated unconjugated (indirect) bilirubin levels are due to either hemolysis or a defect in bilirubin conjugation. Gilbert syndrome is a common cause of mild unconjugated hyperbilirubinemia and results from decreased production of the enzyme that facilitates conjugation of bilirubin with glucuronic acid, UDP glucuronosyltransferase. The enzyme still functions normally; there is just a decreased concentration of the enzyme. Gilbert syndrome is always mild in nature, with mild icterus as the only physical examination finding. Patients present with very nonspecific complaints like fatigue and usually report stress, fasting, or illness as triggers.
(A) G6PD deficiency will cause unconjugated hyperbilirubinemia (from hemolysis), but would present with anemia, which this patient does not have. (C) Crigler–Najjar syndrome type 1 is a rare cause of unconjugated hyperbilirubinemia that is characterized by complete absence of UDP glucuronosyltransferase, resulting in extremely elevated indirect bilirubin levels (20 to 50 mg/dL). Although phototherapy is helpful for short-term results, liver transplant is the only option to cure this disorder. Before these treatment options, children usually died from kernicterus (bilirubin encephalopathy). (D) Crigler–Najjar syndrome type 2 is less severe than type 1 and is distinguished by lower indirect bilirubin levels (<20 mg/dL). Of note, UDP glucuronosyltransferase is present but at reduced levels with this condition. Treatment with phenobarbital will reduce serum bilirubin levels.
A 71-year-old woman with a history of peptic ulcer disease (PUD), diabetes, and hypertension presents with severe epigastric pain that has radiated to her back and down both arms for the last 3 hours. She also reports nausea, vomiting, and some shortness of breath. She has a temperature of 37°C, blood pressure of 98/64 mmHg, heart rate of 110 beats per minute, and a respiratory rate of 20 breaths per minute. Physical examination is significant for tenderness to deep palpation in the epigastrium without guarding or rebound. Murphy sign is negative.
Which of the following is the best next step in management?
Electrocardiogram (ECG). The patient in this question is presenting with abdominal pain that radiates both to her back and down her arms. Given the radiation down her arms, a myocardial infarction (MI) must be ruled out. An MI can present with abdominal pain (particularly inferior and posterior infarctions), especially in diabetic patients with shortness of breath. When an MI is suspected, an ECG and troponin levels should be ordered immediately. (A) Although acute pancreatitis might be the diagnosis, immediate life-threatening diagnoses (such as an MI) must be excluded prior to further workup. (C) Abdominal x-ray would be the best test if perforated PUD were suspected. However, this patient does not present with rebound or peritoneal irritation on physical examination. (D) An FOBT is not warranted at this time, as she is showing no signs of a GI bleed.
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