A 42-year-old woman presents with pruritus and progressive weakness for the past 3 months. She says she feels excessively tired during the daytime and is losing interest in activities that used to be fun. The patient reports a history of heavy alcohol use and drinks around 20 ounces per week. Laboratory studies show:
Proteins 6.5 g/dL
Albumin 4.5 g/dL
Globulin 1.9 g/dL
Bilirubin 5.8 mg/dL
Serum alanine aminotransferase (ALT) 86 U/L
Serum aspartate transaminase (AST) 84 U/L
Serum alkaline phosphatase (ALP) 224 U/L
Antinuclear antibody (ANA) positive
Antimitochondrial antibody (AMA) positive
anti-HBs positive
anti-HBc negative
Which is the most likely diagnosis in this patient?
Q42
A 48-year-old man is brought to the emergency department by his wife because of a 3-day history of increasing confusion and lethargy. He complains of decreased urine output and abdominal pain for the past month. Two months ago, he was hospitalized for pyelonephritis and treated with ceftriaxone. He has a history of chronic hepatitis C. He does not take any medications. He appears pale and irritable. His temperature is 37°C (98.6°F), pulse is 90/min, and blood pressure is 98/60 mm Hg. On mental status examination, he is oriented to person but not to time or place. Physical examination shows scleral icterus and jaundice. There is 2+ pitting edema of the lower extremities. The abdomen is distended with a positive fluid wave. Laboratory studies show:
Hemoglobin 10.1 g/dL
Leukocyte count 4300/mm3
Platelet count 89,000/mm3
Prothrombin time 19 sec
Serum
Urea nitrogen 71 mg/dL
Glucose 99 mg/dL
Creatinine 3.5 mg/dL
ALT 137 mg/dL
AST 154 mg/dL
Urinalysis shows no abnormalities. The FeNa is < 1%. Ultrasound of the kidneys is unremarkable. Intravenous fluids are administered for 36 hours but do not improve urine output. Which of the following is the most likely cause of the kidney dysfunction in this patient?
Q43
A 24-year-old woman arrives to an urgent care clinic for "eye discoloration." She states that for the past 3 days she has had the “stomach flu” and has not been eating much. Today, she reports she is feeling better, but when she woke up "the whites of [her] eyes were yellow." She denies fever, headache, palpitations, abdominal pain, nausea, vomiting, and diarrhea. She was recently diagnosed with polycystic ovary syndrome during a gynecology appointment 2 weeks ago for irregular menses. Since then, she has been taking a daily combined oral contraceptive. She takes no other medications. Her temperature is 98.6°F (37°C), blood pressure is 120/80 mmHg, and pulse is 76/min. Body mass index is 32 kg/m^2. On physical examination, there is scleral icterus and mild jaundice. Liver function tests are drawn, as shown below:
Alanine aminotransferase (ALT): 19 U/L
Aspartate aminotransferase (AST): 15 U/L
Alkaline phosphatase: 85 U/L
Albumin: 4.0 g/dL
Total bilirubin: 12 mg/dL
Direct bilirubin: 10 mg/dL
Prothrombin time: 13 seconds
If a liver biopsy were to be performed and it showed a normal pathology, which of the following would be the most likely diagnosis?
Q44
A 45-year-old man is brought to the emergency department because of a 1-day history of malaise and abdominal pain. Six weeks ago, he had vomiting and watery diarrhea for 2 days that resolved without treatment. Twelve weeks ago, he underwent orthotopic liver transplantation for alcoholic cirrhosis. At the time of discharge, his total serum bilirubin concentration was 1.0 mg/dL. He stopped drinking alcohol one year ago. His current medications include daily tacrolimus, prednisone, valganciclovir, and trimethoprim-sulfamethoxazole. His temperature is 37.7°C (99.9°F), pulse is 95/min, and blood pressure is 150/80 mm Hg. He appears uncomfortable and has mild jaundice. Examination shows scleral icterus. The abdomen is soft and tender to deep palpation over the right upper quadrant, where there is a well-healed surgical scar. His leukocyte count is 2500/mm3, serum bilirubin concentration is 2.6 mg/dL, and serum tacrolimus concentration is within therapeutic range. Which of the following is the next appropriate step in diagnosis?
Q45
A 69-year-old man with aggressive metastatic cholangiocarcinoma presents after the second round of chemotherapy. He has suffered a great deal of pain from the metastasis to his spine, and he is experiencing side effects from the cytotoxic chemotherapy drugs. Imaging shows no change in the tumor mass and reveals the presence of several new metastatic lesions. The patient is not willing to undergo any more chemotherapy unless he gets something for pain that will “knock him out”. High-dose opioids would be effective, in his case, but carry a risk of bradypnea and sudden respiratory failure. Which of the following is the most appropriate next step in management?
Q46
A 30-year-old man presents to clinic. He was born in southeast Asia and immigrated to the US three years ago. He has a history of chronic hepatitis C which he contracted from intravenous drug use. He reports that he has been receiving treatment for his hepatitis C, but unfortunately has started using heroin again. The patient was seen in the clinic last week and had blood work done. His results are as follows:
HBsAg - negative;
HBsAb - negative;
HBcAb - negative.
In addition to encouraging the patient to seek treatment for his heroin addiction, what else should be done at this health visit for general health maintenance?
Q47
A 53-year-old man comes to the physician because of a 3-month history of a nonpruritic rash. He has been feeling more tired than usual and occasionally experiences pain in his wrists and ankles. He does not smoke or drink alcohol. His temperature is 37.6°C (99.7°F), pulse is 98/min, respirations are 18/min, and blood pressure is 130/75 mm Hg. Physical examination shows multiple, erythematous, purpuric papules on his trunk and extremities that do not blanch when pressed. The remainder of the examination shows no abnormalities. The patient's hemoglobin is 14 g/dL, leukocyte count is 9,500/mm3, and platelet count is 228,000/mm3. Urinalysis and liver function tests are within normal limits. The test for rheumatoid factor is positive. Serum ANA is negative. Serum complement levels are decreased. Serum protein electrophoresis and immunofixation shows increased gammaglobulins with pronounced polyclonal IgM and IgG bands. Testing for cryoglobulins shows no precipitate after 24 hours. Chest x-ray and ECG show no abnormalities. Which of the following is the most appropriate next step in management?
Q48
A 46-year-old man comes to the physician for a follow-up examination. Two weeks ago, he underwent laparoscopic herniorrhaphy for an indirect inguinal hernia. During the procedure, a black liver was noted. He has a history of intermittent scleral icterus that resolved without treatment. Serum studies show:
Aspartate aminotransferase 30 IU/L
Alanine aminotransferase 35 IU/L
Alkaline phosphatase 47 mg/dL
Total bilirubin 1.7 mg/dL
Direct bilirubin 1.1 mg/dL
Which of the following is the most likely diagnosis?
Q49
A 59-year-old man presents to his primary care physician for fatigue. In general, he has been in good health; however, he recently has experienced some weight loss, abdominal pain, and general fatigue. He has a past medical history of anxiety, diabetes, a fracture of his foot sustained when he tripped, and a recent cold that caused him to miss work for a week. His current medications include metformin, insulin, buspirone, vitamin D, calcium, and sodium docusate. His temperature is 99.5°F (37.5°C), blood pressure is 150/100 mmHg, pulse is 90/min, respirations are 18/min, and oxygen saturation is 98% on room air. Physical exam reveals a calm gentleman. A mild systolic murmur is heard in the left upper sternal region. The rest of the physical exam is within normal limits. Laboratory values are ordered as seen below.
Hemoglobin: 12 g/dL
Hematocrit: 36%
Leukocyte count: 66,500/mm^3 with normal differential
Platelet count: 177,000/mm^3
Leukocyte alkaline phosphatase: elevated
Serum:
Na+: 139 mEq/L
Cl-: 100 mEq/L
K+: 4.3 mEq/L
BUN: 20 mg/dL
Glucose: 120 mg/dL
Creatinine: 1.1 mg/dL
Ca2+: 10.9 mEq/L
AST: 12 U/L
ALT: 10 U/L
Which of the following is the most likely diagnosis?
Q50
A 42-year-old woman comes to the physician with a rash on the dorsal surfaces of her hands and feet for the past month. The rash began as blisters that developed a few days after she had been sunbathing on the beach. Photographs of the rash are shown. She has no history of similar symptoms, takes no medications, and has no history of recent travels. She has consumed excess alcohol several times over the past 2 months. Her temperature is 37.1°C (98.8°F). The remainder of the physical examination shows no abnormalities. Laboratory studies show elevated plasma porphyrins, with normal urinary 5-aminolevulinic acid and porphobilinogen. Which of the following is the most appropriate next step in management?
Liver disease US Medical PG Practice Questions and MCQs
Question 41: A 42-year-old woman presents with pruritus and progressive weakness for the past 3 months. She says she feels excessively tired during the daytime and is losing interest in activities that used to be fun. The patient reports a history of heavy alcohol use and drinks around 20 ounces per week. Laboratory studies show:
Proteins 6.5 g/dL
Albumin 4.5 g/dL
Globulin 1.9 g/dL
Bilirubin 5.8 mg/dL
Serum alanine aminotransferase (ALT) 86 U/L
Serum aspartate transaminase (AST) 84 U/L
Serum alkaline phosphatase (ALP) 224 U/L
Antinuclear antibody (ANA) positive
Antimitochondrial antibody (AMA) positive
anti-HBs positive
anti-HBc negative
Which is the most likely diagnosis in this patient?
A. Alcoholic cirrhosis
B. Cardiac cirrhosis
C. Primary sclerosing cholangitis
D. Viral hepatitis
E. Primary biliary cholangitis (Correct Answer)
Explanation: ***Primary biliary cholangitis***
- The patient presents with **pruritus**, **fatigue**, and elevated **ALP** with mild transaminitis, which are classic symptoms and lab findings for PBC. The presence of **anti-mitochondrial antibodies (AMA)** is highly specific for PBC, confirming the diagnosis.
- PBC is an **autoimmune disease** predominantly affecting middle-aged women, characterized by chronic destruction of small **intrahepatic bile ducts**.
*Alcoholic cirrhosis*
- While the patient reports **heavy alcohol use**, the lab panel does not fully align with typical alcoholic liver disease. The **AST:ALT ratio** is not >2:1, which is often seen in alcoholic hepatitis or cirrhosis.
- The presence of **pruritus**, significant **ALP elevation**, and **AMA positivity** are not characteristic features of alcoholic liver disease.
*Cardiac cirrhosis*
- **Cardiac cirrhosis** results from chronic right-sided heart failure leading to liver congestion. The patient's history and symptoms do not suggest heart failure.
- There would typically be signs of **fluid overload** (e.g., peripheral edema, jugular venous distension) and no specific autoimmune markers like AMA.
*Primary sclerosing cholangitis*
- **Primary sclerosing cholangitis (PSC)** also causes elevated ALP and usually affects larger bile ducts, leading to characteristic "string-of-pearls" appearance on cholangiography.
- PSC is strongly associated with **inflammatory bowel disease** (especially ulcerative colitis) and is more common in men, and it is typically **AMA-negative**.
*Viral hepatitis*
- The lab results show **anti-HBs positive** and **anti-HBc negative**, indicating prior **Hepatitis B vaccination** or resolved HBV infection, not active viral hepatitis.
- **Viral hepatitis** would typically present with significantly higher **transaminase levels (ALT/AST)** and not necessarily pronounced **pruritus** or **AMA positivity**.
Question 42: A 48-year-old man is brought to the emergency department by his wife because of a 3-day history of increasing confusion and lethargy. He complains of decreased urine output and abdominal pain for the past month. Two months ago, he was hospitalized for pyelonephritis and treated with ceftriaxone. He has a history of chronic hepatitis C. He does not take any medications. He appears pale and irritable. His temperature is 37°C (98.6°F), pulse is 90/min, and blood pressure is 98/60 mm Hg. On mental status examination, he is oriented to person but not to time or place. Physical examination shows scleral icterus and jaundice. There is 2+ pitting edema of the lower extremities. The abdomen is distended with a positive fluid wave. Laboratory studies show:
Hemoglobin 10.1 g/dL
Leukocyte count 4300/mm3
Platelet count 89,000/mm3
Prothrombin time 19 sec
Serum
Urea nitrogen 71 mg/dL
Glucose 99 mg/dL
Creatinine 3.5 mg/dL
ALT 137 mg/dL
AST 154 mg/dL
Urinalysis shows no abnormalities. The FeNa is < 1%. Ultrasound of the kidneys is unremarkable. Intravenous fluids are administered for 36 hours but do not improve urine output. Which of the following is the most likely cause of the kidney dysfunction in this patient?
A. Renal vein thrombosis
B. Renal tubular injury
C. Renal microvascular thrombi
D. Decreased renal perfusion (Correct Answer)
E. Renal interstitial inflammation
Explanation: ***Decreased renal perfusion***
- The patient's history of **chronic hepatitis C** with signs of **liver dysfunction** (jaundice, scleral icterus, distended abdomen with fluid wave, prolonged PT, thrombocytopenia, confusion) suggests **cirrhosis** and portal hypertension, leading to **hepatorenal syndrome (HRS)**.
- **HRS** is characterized by severe **renal vasoconstriction** due to systemic vasodilation and decreased effective arterial blood volume, leading to impaired renal perfusion and function that does **not respond to fluid resuscitation**, as seen in this patient.
- The **low FeNa (<1%)** reflects avid sodium retention, **unremarkable urinalysis** excludes intrinsic renal disease, and **lack of improvement with 36 hours of IV fluids** confirms the diagnosis.
*Renal vein thrombosis*
- This condition is often associated with **nephrotic syndrome** or hypercoagulable states, typically presenting with **flank pain**, hematuria, and a sudden decline in renal function.
- The patient's clinical picture and laboratory findings (e.g., **negative urinalysis**, **low FeNa**, **no response to volume expansion**) are not typical for renal vein thrombosis, which would show abnormal imaging findings.
*Renal tubular injury*
- **Acute tubular necrosis (ATN)**, a form of renal tubular injury, typically occurs after **ischemic or nephrotoxic insults** and is characterized by muddy brown granular casts on urinalysis and a **high FeNa (>2%)**.
- In this case, the **unremarkable urinalysis** and **FeNa <1%** argue against ATN or other primary tubular injury as the cause of acute kidney injury.
*Renal microvascular thrombi*
- Conditions involving renal microvascular thrombi, such as **thrombotic microangiopathy**, often present with **thrombocytopenia**, microangiopathic hemolytic anemia (schistocytes), and severe hypertension.
- While the patient has thrombocytopenia, there is **no evidence of hemolysis** or other features typical of primary microvascular thrombi, and the clinical context points to liver disease as the primary etiology.
*Renal interstitial inflammation*
- **Acute interstitial nephritis (AIN)** is usually drug-induced (e.g., antibiotics, NSAIDs) and presents with **eosinophilia**, rash, fever, and white blood cell casts in the urine.
- The patient's presentation does not include these findings, and the **unremarkable urinalysis** makes AIN less likely. The recent ceftriaxone treatment was 2 months ago, making drug-induced AIN temporally unlikely.
Question 43: A 24-year-old woman arrives to an urgent care clinic for "eye discoloration." She states that for the past 3 days she has had the “stomach flu” and has not been eating much. Today, she reports she is feeling better, but when she woke up "the whites of [her] eyes were yellow." She denies fever, headache, palpitations, abdominal pain, nausea, vomiting, and diarrhea. She was recently diagnosed with polycystic ovary syndrome during a gynecology appointment 2 weeks ago for irregular menses. Since then, she has been taking a daily combined oral contraceptive. She takes no other medications. Her temperature is 98.6°F (37°C), blood pressure is 120/80 mmHg, and pulse is 76/min. Body mass index is 32 kg/m^2. On physical examination, there is scleral icterus and mild jaundice. Liver function tests are drawn, as shown below:
Alanine aminotransferase (ALT): 19 U/L
Aspartate aminotransferase (AST): 15 U/L
Alkaline phosphatase: 85 U/L
Albumin: 4.0 g/dL
Total bilirubin: 12 mg/dL
Direct bilirubin: 10 mg/dL
Prothrombin time: 13 seconds
If a liver biopsy were to be performed and it showed a normal pathology, which of the following would be the most likely diagnosis?
A. Dubin-Johnson syndrome
B. Cholelithiasis
C. Crigler-Najjar syndrome
D. Rotor syndrome (Correct Answer)
E. Gilbert syndrome
Explanation: ***Rotor syndrome***
- This patient's presentation with **elevated direct bilirubin**, normal liver enzymes, and **scleral icterus following a viral illness** is characteristic of Rotor syndrome. This condition is an inherited disorder of bilirubin metabolism causing conjugated hyperbilirubinemia, and is often exacerbated by stress, illness, or certain medications.
- The **normal liver pathology on biopsy** confirms the diagnosis, distinguishing it from conditions with structural liver damage.
*Dubin-Johnson syndrome*
- While it also causes **conjugated hyperbilirubinemia** with normal liver enzymes, Dubin-Johnson syndrome is characterized by a **black discoloration of the liver** on biopsy due to impaired excretion of epinephrine metabolites, which would contradict the normal pathology finding.
- Patients with Dubin-Johnson syndrome typically have **mild, chronic jaundice**, rather than the acute onset seen here following an illness.
*Cholelithiasis*
- **Cholelithiasis** (gallstones) would typically present with **right upper quadrant abdominal pain**, and potentially nausea and vomiting, especially after fatty meals, symptoms which are absent in this patient.
- While it can cause jaundice, this would typically involve **obstructive patterns** with elevated alkaline phosphatase and often elevated direct bilirubin, but the entire clinical picture with a sick-day history and normal liver enzymes does not fit.
*Crigler-Najjar syndrome*
- Crigler-Najjar syndrome is characterized by **unconjugated hyperbilirubinemia** due to a deficiency in the UGT1A1 enzyme, which is responsible for bilirubin conjugation.
- This patient presents with **elevated direct (conjugated) bilirubin**, making Crigler-Najjar syndrome an unlikely diagnosis.
*Gilbert syndrome*
- Gilbert syndrome causes **unconjugated hyperbilirubinemia** due to a mild deficiency in bilirubin glucuronosyltransferase activity, often exacerbated by stress, fasting, or illness.
- This patient has a significantly **elevated direct (conjugated) bilirubin**, which rules out Gilbert syndrome.
Question 44: A 45-year-old man is brought to the emergency department because of a 1-day history of malaise and abdominal pain. Six weeks ago, he had vomiting and watery diarrhea for 2 days that resolved without treatment. Twelve weeks ago, he underwent orthotopic liver transplantation for alcoholic cirrhosis. At the time of discharge, his total serum bilirubin concentration was 1.0 mg/dL. He stopped drinking alcohol one year ago. His current medications include daily tacrolimus, prednisone, valganciclovir, and trimethoprim-sulfamethoxazole. His temperature is 37.7°C (99.9°F), pulse is 95/min, and blood pressure is 150/80 mm Hg. He appears uncomfortable and has mild jaundice. Examination shows scleral icterus. The abdomen is soft and tender to deep palpation over the right upper quadrant, where there is a well-healed surgical scar. His leukocyte count is 2500/mm3, serum bilirubin concentration is 2.6 mg/dL, and serum tacrolimus concentration is within therapeutic range. Which of the following is the next appropriate step in diagnosis?
A. Ultrasound of the liver (Correct Answer)
B. Viral loads
C. CT scan of the abdomen with contrast
D. Liver biopsy
E. Esophagogastroduodenoscopy
Explanation: ***Ultrasound of the liver***
Given the patient's recent liver transplant (12 weeks ago), presenting with abdominal pain, jaundice, and elevated bilirubin, an ultrasound is the **initial diagnostic step** to assess for post-transplant complications. The most critical early complications include **hepatic artery thrombosis** (can occur within the first 3 months), **biliary complications** (strictures, obstruction, bile leak), and vascular issues. Ultrasound with Doppler is **non-invasive, readily available, and cost-effective**, providing crucial information about hepatic vasculature, bile ducts, liver parenchyma, and fluid collections. This should be the first-line imaging modality in any post-transplant patient with new onset jaundice and RUQ pain.
*Viral loads*
While viral infections (particularly CMV, EBV, hepatitis viruses) are common in immunosuppressed transplant patients, the acute presentation with jaundice and RUQ pain makes a structural/vascular complication more immediately likely. The patient is on valganciclovir (CMV prophylaxis), and the prior GI illness 6 weeks ago could have been viral, but this doesn't explain the current acute hepatic dysfunction. Viral loads would be appropriate if imaging is unrevealing or if there are specific clinical features suggesting viral hepatitis, but it's not the **first diagnostic step** for acute post-transplant jaundice with abdominal pain.
*CT scan of the abdomen with contrast*
CT with contrast provides more detailed anatomical information and better characterizes complex intra-abdominal pathology, but it is typically **reserved for when ultrasound is inconclusive** or inadequate. CT involves ionizing radiation exposure and contrast-related risks (nephrotoxicity, particularly important in transplant patients who may have renal dysfunction from calcineurin inhibitors like tacrolimus). Ultrasound should be attempted first as it can answer the critical initial questions about vascular patency and biliary dilation without these risks.
*Liver biopsy*
Liver biopsy is an invasive procedure with risks (bleeding, infection, bile leak) and is generally performed **after non-invasive imaging** to diagnose conditions such as acute/chronic rejection, recurrent disease, or drug-induced liver injury. Since mechanical complications (vascular thrombosis, biliary obstruction) are potentially reversible emergencies that require urgent intervention, imaging must precede biopsy to rule out these structural causes. The therapeutic tacrolimus level makes acute drug toxicity less likely as an immediate cause.
*Esophagogastroduodenoscopy*
EGD evaluates the upper GI tract for bleeding, varices, ulcers, or mucosal lesions. While post-transplant patients can develop portal hypertensive gastropathy or medication-related gastropathy, the dominant features here are **jaundice and elevated bilirubin**, indicating a hepatobiliary rather than luminal GI problem. There's no mention of hematemesis, melena, or significant anemia that would prioritize upper GI evaluation. The RUQ pain and hyperbilirubinemia point toward hepatic/biliary pathology requiring hepatobiliary imaging first.
Question 45: A 69-year-old man with aggressive metastatic cholangiocarcinoma presents after the second round of chemotherapy. He has suffered a great deal of pain from the metastasis to his spine, and he is experiencing side effects from the cytotoxic chemotherapy drugs. Imaging shows no change in the tumor mass and reveals the presence of several new metastatic lesions. The patient is not willing to undergo any more chemotherapy unless he gets something for pain that will “knock him out”. High-dose opioids would be effective, in his case, but carry a risk of bradypnea and sudden respiratory failure. Which of the following is the most appropriate next step in management?
A. Put him in a medically-induced coma during chemotherapy sessions
B. Stop chemotherapy
C. Continue another round of chemotherapy without opioids
D. Give the high-dose opioids (Correct Answer)
E. Give a lower dose even though it has less efficacy
Explanation: ***Give the high-dose opioids***
- Given the patient's **aggressive metastatic cholangiocarcinoma**, lack of response to chemotherapy, severe pain, and desire for effective pain relief, providing **high-dose opioids** aligns with the principles of **palliative care** and patient autonomy at the end of life.
- In a situation where cure is not possible and the patient prioritizes pain relief, even with the risk of **bradypnea** or **respiratory failure**, the focus shifts to maximizing comfort and quality of life.
- The **principle of double effect** applies here: the intent is to relieve suffering, not to hasten death, making this ethically appropriate end-of-life care.
*Put him in a medically-induced coma during chemotherapy sessions*
- A medically-induced coma is an extreme measure usually reserved for conditions like severe brain injury or intractable seizures, not for managing pain during **chemotherapy** or preventing awareness of side effects.
- This option does not address the underlying issue of the **chemotherapy's ineffectiveness** and adds significant risks and complications without clear benefit in this scenario.
*Stop chemotherapy*
- While chemotherapy has been ineffective and caused side effects, the decision to **stop chemotherapy** solely based on patient symptoms or ineffective treatment should be a shared decision, but the question specifically asks for the next step regarding pain management.
- Stopping chemotherapy without addressing the patient's severe pain and his direct request for effective pain relief would be incomplete in this context.
*Continue another round of chemotherapy without opioids*
- The patient has expressed unwillingness to continue chemotherapy without effective pain relief, stating he needs "something for pain that will knock him out," making this option directly contradictory to his wishes.
- Continuing ineffective chemotherapy while denying proper pain management would cause further suffering without benefit, violating principles of **palliative care** and **patient autonomy**.
*Give a lower dose even though it has less efficacy*
- The patient explicitly stated his desire for pain relief that will "knock him out," indicating dissatisfaction with current or sub-therapeutic pain management.
- Providing a **lower, less effective dose of opioids** would go against the patient's expressed wishes and would likely fail to alleviate his severe pain adequately, diminishing his quality of life in his final days.
Question 46: A 30-year-old man presents to clinic. He was born in southeast Asia and immigrated to the US three years ago. He has a history of chronic hepatitis C which he contracted from intravenous drug use. He reports that he has been receiving treatment for his hepatitis C, but unfortunately has started using heroin again. The patient was seen in the clinic last week and had blood work done. His results are as follows:
HBsAg - negative;
HBsAb - negative;
HBcAb - negative.
In addition to encouraging the patient to seek treatment for his heroin addiction, what else should be done at this health visit for general health maintenance?
A. Vaccinate the patient for Hepatitis B (Correct Answer)
B. Write a prescription for a colonoscopy
C. Obtain a PSA
D. Draw blood for an HIV western blot
E. Write a prescription for a fecal occult blood test
Explanation: ***Vaccinate the patient for Hepatitis B***
- The patient's serology (HBsAg negative, HBsAb negative, HBcAb negative) indicates he is **not immune to Hepatitis B virus** and is susceptible to infection.
- Given his history of **intravenous drug use**, he is at high risk for acquiring Hepatitis B, making vaccination a crucial preventive measure.
*Write a prescription for a colonoscopy*
- **Screening colonoscopies** are generally recommended starting at age 45 for individuals at average risk, or earlier if there's a family history or specific symptoms.
- This patient is only 30 years old and has no mentioned risk factors or symptoms that would warrant an immediate colonoscopy.
*Obtain a PSA*
- **Prostate-specific antigen (PSA) screening** for prostate cancer is typically recommended for men starting at age 50-55, depending on individual risk factors and shared decision-making.
- A 30-year-old man is **far too young** for routine PSA screening.
*Draw blood for an HIV western blot*
- While the patient's history of **intravenous drug use** puts him at high risk for HIV and screening is appropriate, the **Western blot** is a confirmatory test, not a primary screening test.
- Initial and routine HIV screening should be performed with a **fourth-generation HIV-1/2 antigen/antibody immunoassay**, followed by confirmatory tests if positive.
*Write a prescription for a fecal occult blood test*
- **Fecal occult blood tests (FOBT)** are a screening method for colorectal cancer, usually recommended for individuals starting at age 45 or 50.
- This 30-year-old patient is not in the appropriate age range for routine colorectal cancer screening using FOBT.
Question 47: A 53-year-old man comes to the physician because of a 3-month history of a nonpruritic rash. He has been feeling more tired than usual and occasionally experiences pain in his wrists and ankles. He does not smoke or drink alcohol. His temperature is 37.6°C (99.7°F), pulse is 98/min, respirations are 18/min, and blood pressure is 130/75 mm Hg. Physical examination shows multiple, erythematous, purpuric papules on his trunk and extremities that do not blanch when pressed. The remainder of the examination shows no abnormalities. The patient's hemoglobin is 14 g/dL, leukocyte count is 9,500/mm3, and platelet count is 228,000/mm3. Urinalysis and liver function tests are within normal limits. The test for rheumatoid factor is positive. Serum ANA is negative. Serum complement levels are decreased. Serum protein electrophoresis and immunofixation shows increased gammaglobulins with pronounced polyclonal IgM and IgG bands. Testing for cryoglobulins shows no precipitate after 24 hours. Chest x-ray and ECG show no abnormalities. Which of the following is the most appropriate next step in management?
A. pANCA assay
B. Bone marrow biopsy
C. Rapid plasma reagin test
D. Hepatitis C serology (Correct Answer)
E. Bence Jones protein test
Explanation: ***Hepatitis C serology***
- The patient's presentation with **nonpruritic purpuric rash**, arthralgias, fatigue, positive rheumatoid factor, and **decreased complement levels** is highly suggestive of **mixed cryoglobulinemia syndrome**.
- **Hepatitis C virus (HCV) infection** is the most common cause of mixed cryoglobulinemia (80-90% of cases), making serological testing for HCV the most appropriate next step to identify the underlying etiology.
- Although the cryoglobulin test showed no precipitate, **false-negative results can occur** if the specimen is not handled properly (must be kept at 37°C during collection and transport). The **clinical syndrome** with the classic triad of purpura, arthralgias, and hypocomplementemia strongly suggests cryoglobulinemia, warranting investigation for HCV regardless of the initial negative test.
*pANCA assay*
- The pANCA assay is primarily used to diagnose **ANCA-associated vasculitides** like microscopic polyangiitis or eosinophilic granulomatosis with polyangiitis.
- This patient's clinical picture, particularly the **polyclonal gammaglobulinemia** and **decreased complement**, is less consistent with ANCA-associated vasculitis, which typically presents with normal or elevated complement levels.
*Bone marrow biopsy*
- Bone marrow biopsy is indicated for evaluating **hematological malignancies** or unexplained cytopenias/cytoses.
- While there are elevated gammaglobulins, the **polyclonal nature** (IgM and IgG bands) makes a monoclonal gammopathy such as multiple myeloma or Waldenström macroglobulinemia less likely at this stage.
*Rapid plasma reagin test*
- The rapid plasma reagin (RPR) test is used to screen for **syphilis**.
- Although syphilis can present with a rash and constitutional symptoms, the specific combination of **purpuric rash**, **arthralgias**, **positive RF**, and **hypocomplementemia** points more directly to cryoglobulinemia than syphilis.
*Bence Jones protein test*
- The Bence Jones protein test detects **monoclonal free light chains** in urine, primarily used in the diagnosis and monitoring of **multiple myeloma** or other monoclonal gammopathies.
- The patient's serum protein electrophoresis showed **polyclonal IgM and IgG bands**, not a monoclonal spike, making multiple myeloma less likely and thus urine Bence Jones protein less immediately indicated.
Question 48: A 46-year-old man comes to the physician for a follow-up examination. Two weeks ago, he underwent laparoscopic herniorrhaphy for an indirect inguinal hernia. During the procedure, a black liver was noted. He has a history of intermittent scleral icterus that resolved without treatment. Serum studies show:
Aspartate aminotransferase 30 IU/L
Alanine aminotransferase 35 IU/L
Alkaline phosphatase 47 mg/dL
Total bilirubin 1.7 mg/dL
Direct bilirubin 1.1 mg/dL
Which of the following is the most likely diagnosis?
A. Gilbert syndrome
B. Dubin-Johnson syndrome (Correct Answer)
C. Type II Crigler-Najjar syndrome
D. Type I Crigler-Najjar syndrome
E. Rotor syndrome
Explanation: ***Dubin-Johnson syndrome***
- The presence of a **black liver** during surgery is pathognomonic for Dubin-Johnson syndrome, due to the accumulation of **melanin-like pigment** from impaired hepatocyte excretion.
- This syndrome is characterized by **intermittent conjugated hyperbilirubinemia** (direct bilirubin 1.1 mg/dL, total bilirubin 1.7 mg/dL) and **normal liver enzymes**, consistent with the patient's presentation of scleral icterus that resolved spontaneously.
*Gilbert syndrome*
- Gilbert syndrome is characterized by **unconjugated hyperbilirubinemia** due to reduced UDP-glucuronosyltransferase activity, while this patient has elevated direct bilirubin.
- It does **not cause a black liver**, nor does it typically present with such a significant elevation in direct bilirubin.
*Type II Crigler-Najjar syndrome*
- This syndrome involves **unconjugated hyperbilirubinemia** (due to a defect in UDP-glucuronosyltransferase) and would not present with a black liver.
- While less severe than Type I, it still primarily affects **unconjugated bilirubin metabolism**.
*Type I Crigler-Najjar syndrome*
- This is a severe form of **unconjugated hyperbilirubinemia**, often leading to **kernicterus** in infancy, and is not consistent with an adult presenting with intermittent mild icterus and normal liver enzymes.
- It is not associated with a **black liver**.
*Rotor syndrome*
- Rotor syndrome also causes **conjugated hyperbilirubinemia** with normal liver enzymes but is distinguished from Dubin-Johnson by the **absence of a black liver**.
- It is usually less severe than Dubin-Johnson and has a slightly different pattern of urinary coproporphyrin excretion.
Question 49: A 59-year-old man presents to his primary care physician for fatigue. In general, he has been in good health; however, he recently has experienced some weight loss, abdominal pain, and general fatigue. He has a past medical history of anxiety, diabetes, a fracture of his foot sustained when he tripped, and a recent cold that caused him to miss work for a week. His current medications include metformin, insulin, buspirone, vitamin D, calcium, and sodium docusate. His temperature is 99.5°F (37.5°C), blood pressure is 150/100 mmHg, pulse is 90/min, respirations are 18/min, and oxygen saturation is 98% on room air. Physical exam reveals a calm gentleman. A mild systolic murmur is heard in the left upper sternal region. The rest of the physical exam is within normal limits. Laboratory values are ordered as seen below.
Hemoglobin: 12 g/dL
Hematocrit: 36%
Leukocyte count: 66,500/mm^3 with normal differential
Platelet count: 177,000/mm^3
Leukocyte alkaline phosphatase: elevated
Serum:
Na+: 139 mEq/L
Cl-: 100 mEq/L
K+: 4.3 mEq/L
BUN: 20 mg/dL
Glucose: 120 mg/dL
Creatinine: 1.1 mg/dL
Ca2+: 10.9 mEq/L
AST: 12 U/L
ALT: 10 U/L
Which of the following is the most likely diagnosis?
A. Chronic myeloid leukemia
B. Acute lymphoblastic leukemia
C. Multiple myeloma
D. Leukemoid reaction (Correct Answer)
E. Chronic lymphocytic leukemia
Explanation: ***Leukemoid reaction***
- The **highly elevated leukocyte count** (66,500/mm^3) with **normal differential** and **elevated leukocyte alkaline phosphatase (LAP)** are classic features of a leukemoid reaction.
- This condition is a reactive increase in white blood cells, often triggered by **severe infections, inflammation, or malignancy**, rather than a primary hematologic malignancy.
- The patient's **recent cold/infection** provides a clear trigger for this reactive process.
*Chronic myeloid leukemia*
- While CML also presents with marked leukocytosis, it is typically characterized by a **low or normal LAP score** and a left shift with immature myeloid forms (e.g., myelocytes, metamyelocytes).
- The patient's **normal differential** and **elevated LAP score** argue strongly against CML.
*Acute lymphoblastic leukemia*
- ALL is characterized by the presence of a large number of **lymphoblasts** (immature lymphocytes) in the blood and bone marrow, which is not suggested by the normal differential.
- It usually presents with symptoms of **bone marrow failure** (anemia, thrombocytopenia, infection) and often affects children, though it can occur in adults.
*Multiple myeloma*
- Multiple myeloma is a plasma cell malignancy characterized by **monoclonal gammopathy**, bone lesions, renal failure, and hypercalcemia; **marked leukocytosis is not a primary feature**.
- Although the patient has mildly elevated calcium, the absence of other myeloma features (renal dysfunction, anemia, bone pain) and the **very high WBC count with elevated LAP** make this diagnosis unlikely.
*Chronic lymphocytic leukemia*
- CLL is characterized by a **profound lymphocytosis** (elevated lymphocytes) with mature-appearing cells, which is not described by the "normal differential" of the leukocyte count.
- The elevated LAP would also be unusual in CLL, as CLL cells typically have low LAP activity.
Question 50: A 42-year-old woman comes to the physician with a rash on the dorsal surfaces of her hands and feet for the past month. The rash began as blisters that developed a few days after she had been sunbathing on the beach. Photographs of the rash are shown. She has no history of similar symptoms, takes no medications, and has no history of recent travels. She has consumed excess alcohol several times over the past 2 months. Her temperature is 37.1°C (98.8°F). The remainder of the physical examination shows no abnormalities. Laboratory studies show elevated plasma porphyrins, with normal urinary 5-aminolevulinic acid and porphobilinogen. Which of the following is the most appropriate next step in management?
A. Carbohydrate loading
B. Phlebotomy (Correct Answer)
C. Afamelanotide
D. Splenectomy
E. Intravenous hemin
Explanation: ***Phlebotomy***
- The patient's symptoms (photosensitive blistering rash on sun-exposed areas) in combination with **elevated plasma porphyrins** and normal urinary **ALA and PBG** are classic for **porphyria cutanea tarda (PCT)**.
- **Phlebotomy** is a first-line treatment for PCT, as it reduces iron stores, which in turn decreases porphyrin production and clinical symptoms.
*Carbohydrate loading*
- This is a treatment for **acute intermittent porphyria (AIP)** and other acute hepatic porphyrias, which present with neurovisceral symptoms, not primarily skin lesions.
- The patient's normal urinary **ALA and PBG** rule out AIP.
*Afamelanotide*
- This is a synthetic alpha-melanocyte-stimulating hormone analog used to prevent phototoxicity in **erythropoietic protoporphyria (EPP)**.
- EPP presents with immediate painful photosensitivity without blistering, and specific porphyrin patterns differ from PCT.
*Splenectomy*
- Splenectomy is a treatment for certain types of **hemolytic anemias** or sometimes in severe cases of **congenital erythropoietic porphyria (CEP)**, also known as Gunther's disease.
- It is not indicated for PCT.
*Intravenous hemin*
- This is a treatment for **acute porphyric attacks** (e.g., in acute intermittent porphyria) to suppress hepatic ALA synthase activity.
- PCT does not typically present with acute neurovisceral attacks and its primary treatment is not hemin.
