Systemic Pathology — MCQs

A 27-year-old woman presents to the emergency department complaining of a left-sided headache and right-sided blurry vision. She states that 2 weeks ago she developed dark urine and abdominal pain. She thought it was a urinary tract infection so she took trimethoprim-sulfamethoxazole that she had left over. She planned on going to her primary care physician today but then she developed headache and blurry vision so she came to the emergency department. The patient states she is otherwise healthy. Her family history is significant for a brother with sickle cell trait. On physical examination, there is mild abdominal tenderness, and the liver edge is felt 4 cm below the right costal margin. Labs are drawn as below: Hemoglobin: 7.0 g/dL Platelets: 149,000/mm^3 Reticulocyte count: 5.4% Lactate dehydrogenase: 3128 U/L Total bilirubin: 2.1 mg/dL Indirect bilirubin: 1.4 mg/dL Aspartate aminotransferase: 78 U/L Alanine aminotransferase: 64 U/L A peripheral smear shows polychromasia. A Doppler ultrasound of the liver shows decreased flow in the right hepatic vein. Magnetic resonance imaging of the brain is pending. Which of the following tests, if performed, would most likely identify the patient’s diagnosis?

A 3080-g (6-lb 13-oz) male newborn is delivered at term to a 27-year-old woman, gravida 2, para 1. Pregnancy was uncomplicated. He appears pale. His temperature is 36.8°C (98.2°F), pulse is 167/min, and respirations are 56/min. Examination shows jaundice of the skin and conjunctivae. The liver is palpated 2–3 cm below the right costal margin, and the spleen is palpated 1–2 cm below the left costal margin. The lungs are clear to auscultation. No murmurs are heard. His hemoglobin concentration is 10.6 g/dL and mean corpuscular volume is 73 μm3. Hemoglobin DNA testing shows 3 missing alleles. Which of the following laboratory findings is most likely present in this patient?

A 61-year-old man presents to the emergency department because he has developed blisters at multiple locations on his body. He says that the blisters appeared several days ago after a day of hiking in the mountains with his colleagues. When asked about potential triggering events, he says that he recently had an infection and was treated with antibiotics but he cannot recall the name of the drug that he took. In addition, he accidentally confused his medication with one of his wife's blood thinner pills several days before the blisters appeared. On examination, the blisters are flesh-colored, raised, and widespread on his skin but do not involve his mucosal surfaces. The blisters are tense to palpation and do not separate with rubbing. Pathology of the vesicles show that they continue under the level of the epidermis. Which of the following is the most likely cause of this patient's blistering?

A 61-year-old man comes to the physician because of progressively worsening swelling of his ankles. He says he has felt exhausted lately. Over the past 3 months, he has gained 5 kg. He has smoked one pack of cigarettes daily for 30 years. His pulse is 75/min and his blood pressure is 140/90 mmHg. Examination shows 2+ pitting edema in the lower extremities. Neurologic exam shows diminished two-point discrimination in the fingers and toes. A urine sample is noted to be foamy. Laboratory studies show a hemoglobin A1c of 7.9% and creatinine of 1.9 mg/dL. A biopsy specimen of the kidney is most likely to show which of the following?

A 54-year-old man comes to the physician because of a cough with blood-tinged sputum for 1 week. He also reports fever and a 5-kg (11 lb) weight loss during the past 2 months. Over the past year, he has had 4 episodes of sinusitis. Physical examination shows palpable nonblanching skin lesions over the hands and feet. Examination of the nasal cavity shows ulceration of the nasopharyngeal mucosa and a depressed nasal bridge. Oral examination shows a painful erythematous gingival enlargement that bleeds easily on contact. Which of the following is the most likely cause of the patient's symptoms?

A 3-year-old boy is brought to the physician by his parents for a well-child examination. The boy was born at term via vaginal delivery and has been healthy except for impaired vision due to severe short-sightedness. He is at the 97th percentile for height and 25th percentile for weight. Oral examination shows a high-arched palate. He has abnormally long, slender fingers and toes, and his finger joints are hyperflexible. The patient is asked to place his thumbs in the palms of the same hand and then clench to form a fist. The thumbs are noted to protrude beyond the ulnar border of the hand. Slit lamp examination shows lens subluxation in the superotemporal direction bilaterally. Which of the following is the most likely underlying cause of this patient's condition?

A 20-month-old boy is brought to the emergency department by his parents with fever and diarrhea that have persisted for the past 2 days. He has a history of repeated bouts of diarrhea, upper respiratory tract infections, and failure to thrive. His vital signs are as follows: blood pressure 80/40 mm Hg, pulse 130/min, temperature 39.0°C (102.2°F), and respiratory rate 30/min. Blood tests are suggestive of lymphopenia. The child is diagnosed with severe combined immune deficiency after additional testing. Which of the following is the most common association with this type of immunodeficiency?

A 49-year-old woman is brought to the emergency department by her daughter because of increasing arthralgia, headache, and somnolence for the past week. She has a history of systemic lupus erythematosus without vital organ involvement. She last received low-dose glucocorticoids 2 months ago. Her temperature is 38.6 °C (101.5 °F), pulse is 80/min, respirations are 21/min, and blood pressure is 129/80 mm Hg. She is confused and disoriented. Examination shows scleral icterus and ecchymoses over the trunk and legs. Neurological examination is otherwise within normal limits. Laboratory studies show: Hemoglobin 8.7 g/dL Leukocyte count 6,200/mm3 Platelet count 25,000/mm3 Prothrombin time 15 seconds Partial thromboplastin time 39 seconds Fibrin split products negative Serum Bilirubin Total 4.9 mg/dL Direct 0.5 mg/dL A blood smear shows numerous fragmented red blood cells. Urinalysis shows hematuria and proteinuria. Which of the following is the most likely diagnosis?

An investigator studying disorders of hemostasis performs gene expression profiling in a family with a specific type of bleeding disorder. These patients were found to have abnormally large von Willebrand factor (vWF) multimers in their blood. Genetic analysis shows that the underlying cause is a mutation in the ADAMTS13 gene. This mutation results in a deficiency of the encoded metalloprotease, which is responsible for cleavage of vWF. Which of the following additional laboratory findings is most likely in these patients?

A 32-year-old man presents with a 2-month history of increasing lethargy, frequent upper respiratory tract infections, and easy bruising. Past medical history is unremarkable. The patient reports a 14-pack-year smoking history and says he drinks alcohol socially. No significant family history. His vital signs include: temperature 36.8°C (98.2°F), blood pressure 132/91 mm Hg and pulse 95/min. Physical examination reveals conjunctival pallor and scattered ecchymoses on the lower extremities. Laboratory results are significant for the following: Hemoglobin 8.2 g/dL Leukocyte count 2,200/mm3 Platelet count 88,000/mm3 Reticulocyte count 0.5% A bone marrow biopsy is performed, which demonstrates hypocellularity with no abnormal cell population. Which of the following is the most likely diagnosis in this patient?