A 52-year-old man presents to his primary care physician for generalized pain. The patient states that he feels like his muscles and bones are in constant pain. This has persisted for the past several weeks, and his symptoms have not improved with use of ibuprofen or acetaminophen. The patient has a past medical history of alcohol abuse, repeat episodes of pancreatitis, constipation, and anxiety. He has a 22 pack-year smoking history. His temperature is 99.5°F (37.5°C), blood pressure is 140/95 mmHg, pulse is 70/min, respirations are 15/min, and oxygen saturation is 99% on room air. On physical exam, you note generalized tenderness/pain of the patient's extremities. Abdominal exam reveals normoactive bowel sounds and is non-tender. Dermatologic exam is unremarkable. Laboratory values are ordered as seen below.
Hemoglobin: 12 g/dL
Hematocrit: 36%
Leukocyte count: 7,500/mm^3 with normal differential
Platelet count: 147,000/mm^3
Serum:
Na+: 138 mEq/L
Cl-: 100 mEq/L
K+: 4.2 mEq/L
HCO3-: 24 mEq/L
BUN: 20 mg/dL
Glucose: 99 mg/dL
Creatinine: 1.0 mg/dL
Ca2+: 10.2 mg/dL
Alkaline phosphatase: 252 U/L
Lipase: 30 U/L
AST: 12 U/L
ALT: 10 U/L
Which of the following is associated with this patient's condition?
Q142
A 32-year-old man comes to the physician for a follow-up examination. He has a 2-month history of increasing generalized fatigue and severe pruritus. He has hypertension and ulcerative colitis which was diagnosed via colonoscopy 5 years ago. Current medications include lisinopril and rectal mesalamine. He is sexually active with 2 female partners and uses condoms inconsistently. His temperature is 37.3°C (99.1°F), pulse is 86/min, and blood pressure is 130/84 mm Hg. Examination shows scleral icterus and multiple scratch marks on the trunk and extremities. The lungs are clear to auscultation. The abdomen is soft and nontender. The remainder of the examination shows no abnormalities. Laboratory studies show:
Hemoglobin 11.5 g/dL
Leukocyte count 7500/mm3
Platelet count 280,000/mm3
Serum
Na+ 138 mEq/L
Cl- 101 mEq/L
K+ 4.7 mEq/L
Urea nitrogen 18 mg/dL
Glucose 91 mg/dL
Creatinine 0.8 mg/dL
Bilirubin
Total 1.5 mg/dL
Direct 0.9 mg/dL
Alkaline phosphatase 460 U/L
AST 75 U/L
ALT 78 U/L
Anti-nuclear antibody negative
Antimitochondrial antibodies negative
Abdominal ultrasound shows thickening of the bile ducts and focal bile duct dilatation. Which of the following is the most likely diagnosis?
Q143
A 48-year-old man is brought to the emergency department by his wife 20 minutes after she witnessed him vigorously shaking for about 1 minute. During this episode, he urinated on himself. He feels drowsy and has nausea. He has a history of chronic alcoholism; he has been drinking 15 beers daily for the past 3 days. Before this time, he drank 8 beers daily. His last drink was 2 hours ago. He appears lethargic. His vital signs are within normal limits. Physical and neurologic examinations show no other abnormalities. On mental status examination, he is confused and not oriented to time. Laboratory studies show:
Hematocrit 44.0%
Leukocyte count 12,000/mm3
Platelet count 320,000/mm3
Serum
Na+ 112 mEq/L
Cl- 75 mEq/L
K+ 3.8 mEq/L
HCO3- 13 mEq/L
Urea nitrogen 6 mEq/L
Creatinine 0.6 mg/dL
Albumin 2.1 g/dL
Glucose 80 mg/dL
Urgent treatment for this patient's current condition puts him at increased risk for which of the following adverse events?
Q144
A 50-year-old woman presents with esophageal varices, alcoholic cirrhosis, hepatic encephalopathy, portal hypertension, and recent onset confusion. The patient’s husband does not recall her past medical history but knows her current medications and states that she is quite disciplined about taking them. Current medications are spironolactone, labetalol, lactulose, and furosemide. Her temperature is 38.3°C (100.9°F), heart rate is 115/min, blood pressure is 105/62 mm Hg, respiratory rate is 12/min, and oxygen saturation is 96% on room air. On physical examination, the patient is disoriented, lethargic, and poorly responsive to commands. A cardiac examination is unremarkable. Lungs are clear to auscultation. The abdomen is distended, tense, and mildly tender. Mild asterixis is present. Neurologic examination is normal. The digital rectal examination reveals guaiac negative stool. Laboratory findings are significant for the following:
Basic metabolic panel Unremarkable
Platelet count 95,500/µL
Leukocyte count 14,790/µL
Hematocrit 33% (baseline is 30%)
Which of the following would most likely be of diagnostic value in this patient?
Q145
A 46-year-old man comes to the emergency department because of a 10-day history of right upper quadrant abdominal pain. He has also been feeling tired and nauseous for the past 6 weeks. On examination, scleral icterus is present. Abdominal examination shows tenderness to palpation in the right upper quadrant. The liver edge is palpated 2 cm below the right costal margin. Laboratory studies show:
Aspartate aminotransferase 1780 U/L
Alanine aminotransferase 2520 U/L
Hepatitis A IgM antibody Negative
Hepatitis B surface antigen Negative
Hepatitis B surface antibody Negative
Hepatitis B core IgM antibody Positive
Hepatitis C antibody Positive
Hepatitis C RNA Negative
Which of the following is the best course of action for this patient?
Q146
A 48-year-old woman comes to the emergency department because of a photosensitive blistering rash on her hands, forearms, and face for 3 weeks. The lesions are not itchy. She has also noticed that her urine has been dark brown in color recently. Twenty years ago, she was successfully treated for Coats disease of the retina via retinal sclerotherapy. She is currently on hormonal replacement therapy for perimenopausal symptoms. Her aunt and sister have a history of a similar skin lesions. Examination shows multiple fluid-filled blisters and oozing erosions on the forearms, dorsal side of both hands, and forehead. There is hyperpigmented scarring and patches of bald skin along the sides of the blisters. Laboratory studies show a normal serum ferritin concentration. Which of the following is the most appropriate next step in management to induce remission in this patient?
Q147
A previously healthy 36-year-old man comes to the physician for a yellow discoloration of his skin and dark-colored urine for 2 weeks. He does not drink any alcohol. Physical examination shows jaundice. Abdominal and neurologic examinations show no abnormalities. Serum studies show increased levels of alanine aminotransferase (ALT) and aspartate aminotransferase (AST). A liver biopsy is performed and a photomicrograph after periodic acid-Schiff-staining is shown. Which of the following is the most likely additional finding in this patient?
Liver disease US Medical PG Practice Questions and MCQs
Question 141: A 52-year-old man presents to his primary care physician for generalized pain. The patient states that he feels like his muscles and bones are in constant pain. This has persisted for the past several weeks, and his symptoms have not improved with use of ibuprofen or acetaminophen. The patient has a past medical history of alcohol abuse, repeat episodes of pancreatitis, constipation, and anxiety. He has a 22 pack-year smoking history. His temperature is 99.5°F (37.5°C), blood pressure is 140/95 mmHg, pulse is 70/min, respirations are 15/min, and oxygen saturation is 99% on room air. On physical exam, you note generalized tenderness/pain of the patient's extremities. Abdominal exam reveals normoactive bowel sounds and is non-tender. Dermatologic exam is unremarkable. Laboratory values are ordered as seen below.
Hemoglobin: 12 g/dL
Hematocrit: 36%
Leukocyte count: 7,500/mm^3 with normal differential
Platelet count: 147,000/mm^3
Serum:
Na+: 138 mEq/L
Cl-: 100 mEq/L
K+: 4.2 mEq/L
HCO3-: 24 mEq/L
BUN: 20 mg/dL
Glucose: 99 mg/dL
Creatinine: 1.0 mg/dL
Ca2+: 10.2 mg/dL
Alkaline phosphatase: 252 U/L
Lipase: 30 U/L
AST: 12 U/L
ALT: 10 U/L
Which of the following is associated with this patient's condition?
A. Hypercalcemia
B. Adenocarcinoma of the gallbladder
C. Obstructive jaundice
D. Bence Jones proteins
E. Alcoholic bone disease (Correct Answer)
Explanation: ***Alcoholic bone disease***
- Chronic **alcohol abuse** is a major risk factor for **metabolic bone disease**, including osteoporosis and osteomalacia, which can lead to generalized bone pain.
- The patient's history of alcohol abuse, elevated **alkaline phosphatase (252 U/L)**, and generalized bone pain suggest bone disease related to chronic alcoholism.
- While "alcoholic bone disease" is not a formal diagnosis, chronic alcohol use impairs bone formation, decreases calcium absorption, and can cause vitamin D deficiency, leading to osteomalacia with elevated alkaline phosphatase.
- **Note**: This presentation is also consistent with **Paget's disease of bone** (isolated elevated alkaline phosphatase with bone pain), but given the options, the alcohol-bone disease association is the most relevant.
*Bence Jones proteins*
- These are **monoclonal light chains** found in the urine, highly suggestive of **multiple myeloma**.
- While multiple myeloma can present with bone pain and elevated alkaline phosphatase, it typically presents with **hypercalcemia**, **anemia**, and **renal dysfunction** (CRAB criteria: hyperCalcemia, Renal failure, Anemia, Bone lesions).
- This patient has **normal calcium** and **normal renal function**, making multiple myeloma less likely.
*Hypercalcemia*
- The patient's **calcium level is normal** (10.2 mg/dL; normal range 8.5-10.5 mg/dL), ruling out hypercalcemia.
- Hypercalcemia can cause bone pain, constipation, and neuropsychiatric symptoms, but is not present in this case.
*Adenocarcinoma of the gallbladder*
- This rare malignancy typically presents with **right upper quadrant pain**, **jaundice**, **weight loss**, and a palpable mass.
- The patient's **normal liver enzymes** (AST, ALT) and lack of biliary symptoms make this unlikely.
*Obstructive jaundice*
- Would present with **jaundice**, **dark urine**, **pale stools**, **pruritus**, and elevated conjugated bilirubin.
- While alkaline phosphatase can be elevated in cholestasis, the patient's **normal AST/ALT** and absence of jaundice make this unlikely.
Question 142: A 32-year-old man comes to the physician for a follow-up examination. He has a 2-month history of increasing generalized fatigue and severe pruritus. He has hypertension and ulcerative colitis which was diagnosed via colonoscopy 5 years ago. Current medications include lisinopril and rectal mesalamine. He is sexually active with 2 female partners and uses condoms inconsistently. His temperature is 37.3°C (99.1°F), pulse is 86/min, and blood pressure is 130/84 mm Hg. Examination shows scleral icterus and multiple scratch marks on the trunk and extremities. The lungs are clear to auscultation. The abdomen is soft and nontender. The remainder of the examination shows no abnormalities. Laboratory studies show:
Hemoglobin 11.5 g/dL
Leukocyte count 7500/mm3
Platelet count 280,000/mm3
Serum
Na+ 138 mEq/L
Cl- 101 mEq/L
K+ 4.7 mEq/L
Urea nitrogen 18 mg/dL
Glucose 91 mg/dL
Creatinine 0.8 mg/dL
Bilirubin
Total 1.5 mg/dL
Direct 0.9 mg/dL
Alkaline phosphatase 460 U/L
AST 75 U/L
ALT 78 U/L
Anti-nuclear antibody negative
Antimitochondrial antibodies negative
Abdominal ultrasound shows thickening of the bile ducts and focal bile duct dilatation. Which of the following is the most likely diagnosis?
A. Primary biliary cholangitis
B. Hepatitis B infection
C. Autoimmune hepatitis
D. IgG4-associated cholangitis
E. Primary sclerosing cholangitis (Correct Answer)
Explanation: ***Primary sclerosing cholangitis***
- This patient's history of **ulcerative colitis** combined with cholestatic liver injury (elevated alkaline phosphatase >> transaminases), **scleral icterus**, and **severe pruritus** strongly suggests primary sclerosing cholangitis (PSC).
- The imaging findings of **bile duct thickening and focal dilatation** are characteristic of PSC, which causes chronic inflammation and fibrosis of intra- and extrahepatic bile ducts.
- PSC is strongly associated with inflammatory bowel disease, particularly **ulcerative colitis** (present in 60-80% of PSC patients), and typically affects men in their 30s-40s.
- Negative antimitochondrial antibodies help distinguish this from primary biliary cholangitis.
*Primary biliary cholangitis*
- Primary biliary cholangitis (PBC) typically affects **middle-aged women** and is characterized by positive **antimitochondrial antibodies (AMAs)**, which are negative in this patient.
- While PBC also causes cholestatic liver injury with pruritus, the male gender, younger age, strong association with ulcerative colitis, and bile duct changes on imaging point to PSC rather than PBC.
*Hepatitis B infection*
- Viral hepatitis B typically presents with a **hepatocellular pattern** of injury with AST and ALT elevated much higher than alkaline phosphatase (often >1000 U/L).
- This patient shows a **cholestatic pattern** (alkaline phosphatase 460 U/L with transaminases only mildly elevated at 75-78 U/L).
- Diagnosis would require positive hepatitis B serologies (HBsAg, anti-HBc), which are not present.
*Autoimmune hepatitis*
- Autoimmune hepatitis causes a **hepatocellular injury pattern** with very high transaminases (often >500-1000 U/L) and is associated with positive autoantibodies such as **ANA** or **anti-smooth muscle antibodies**, which are negative in this case.
- This patient's predominant cholestatic pattern and bile duct abnormalities are not consistent with autoimmune hepatitis.
*IgG4-associated cholangitis*
- IgG4-associated cholangitis can mimic PSC with bile duct stricturing and obstructive jaundice, but typically presents with **elevated serum IgG4 levels** and characteristic histopathology.
- It is **not associated with ulcerative colitis** and is much less common than PSC.
- This diagnosis would require tissue biopsy showing dense lymphoplasmacytic infiltrate with IgG4-positive plasma cells.
Question 143: A 48-year-old man is brought to the emergency department by his wife 20 minutes after she witnessed him vigorously shaking for about 1 minute. During this episode, he urinated on himself. He feels drowsy and has nausea. He has a history of chronic alcoholism; he has been drinking 15 beers daily for the past 3 days. Before this time, he drank 8 beers daily. His last drink was 2 hours ago. He appears lethargic. His vital signs are within normal limits. Physical and neurologic examinations show no other abnormalities. On mental status examination, he is confused and not oriented to time. Laboratory studies show:
Hematocrit 44.0%
Leukocyte count 12,000/mm3
Platelet count 320,000/mm3
Serum
Na+ 112 mEq/L
Cl- 75 mEq/L
K+ 3.8 mEq/L
HCO3- 13 mEq/L
Urea nitrogen 6 mEq/L
Creatinine 0.6 mg/dL
Albumin 2.1 g/dL
Glucose 80 mg/dL
Urgent treatment for this patient's current condition puts him at increased risk for which of the following adverse events?
A. Cardiac arrhythmia
B. Osmotic myelinolysis (Correct Answer)
C. Cerebral edema
D. Wernicke encephalopathy
E. Hyperglycemia
Explanation: **Osmotic myelinolysis**
- The severe **hyponatremia (Na+ 112 mEq/L)** in a chronic alcoholic, likely due to increased ADH from excessive beer intake (beer potomania) and possible malnutrition, places him at risk.
- **Rapid correction** of chronic hyponatremia can cause water to leave brain cells too quickly, leading to **demyelination** of neurons, particularly in the pons.
*Cardiac arrhythmia*
- While severe **electrolyte imbalances** such as hypokalemia or hypomagnesemia can cause cardiac arrhythmias, his potassium is normal, and there's no indication of magnesium deficiency.
- **Alcohol withdrawal** can also cause arrhythmias, but the immediate treatment for his hyponatremia does not directly increase this risk.
*Cerebral edema*
- **Cerebral edema** is a risk of **untreated severe hyponatremia**, where water shifts into brain cells, causing swelling.
- However, the question asks about the risk associated with **urgent treatment** for the condition, which, in this case, would involve raising serum sodium.
*Wernicke encephalopathy*
- **Wernicke encephalopathy** is caused by **thiamine deficiency**, common in chronic alcoholics, and presents with gait ataxia, ophthalmoplegia, and confusion.
- While this patient is at risk, treating hyponatremia does not directly increase the risk of Wernicke encephalopathy; rather, thiamine administration is part of routine care for alcoholics.
*Hyperglycemia*
- **Hyperglycemia** is not a common adverse event of correcting hyponatremia in a patient with a normal blood glucose level.
- Insulin resistance or glucose intolerance might be present in chronic alcoholics, but the urgent treatment for hyponatremia itself does not typically induce hyperglycemia.
Question 144: A 50-year-old woman presents with esophageal varices, alcoholic cirrhosis, hepatic encephalopathy, portal hypertension, and recent onset confusion. The patient’s husband does not recall her past medical history but knows her current medications and states that she is quite disciplined about taking them. Current medications are spironolactone, labetalol, lactulose, and furosemide. Her temperature is 38.3°C (100.9°F), heart rate is 115/min, blood pressure is 105/62 mm Hg, respiratory rate is 12/min, and oxygen saturation is 96% on room air. On physical examination, the patient is disoriented, lethargic, and poorly responsive to commands. A cardiac examination is unremarkable. Lungs are clear to auscultation. The abdomen is distended, tense, and mildly tender. Mild asterixis is present. Neurologic examination is normal. The digital rectal examination reveals guaiac negative stool. Laboratory findings are significant for the following:
Basic metabolic panel Unremarkable
Platelet count 95,500/µL
Leukocyte count 14,790/µL
Hematocrit 33% (baseline is 30%)
Which of the following would most likely be of diagnostic value in this patient?
A. Therapeutic trial of lactulose
B. Abdominal paracentesis (Correct Answer)
C. Noncontrast CT of the head
D. Serum ammonia level
E. Esophagogastroduodenoscopy
Explanation: ***Abdominal paracentesis***
- The patient presents with **fever, abdominal tenderness, distension, and new-onset confusion** in the setting of **cirrhosis and ascites**, which are highly suggestive of **spontaneous bacterial peritonitis (SBP)**.
- An **abdominal paracentesis** with analysis of ascitic fluid (cell count with differential, culture) is necessary to diagnose SBP and guide appropriate antibiotic treatment.
*Therapeutic trial of lactulose*
- While the patient has **hepatic encephalopathy** and is on lactulose, her current presentation with **fever and abdominal tenderness** suggests an acute infectious process rather than worsening encephalopathy unresponsive to current therapy.
- A therapeutic trial of lactulose alone would delay the diagnosis of a potentially life-threatening infection like SBP.
*Noncontrast CT of the head*
- Although the patient has new-onset confusion, her presentation also includes **fever, abdominal tenderness, and signs of infection** in a patient with cirrhosis.
- A CT head would be more appropriate if there were focal neurological deficits, acute head trauma, or if SBP was ruled out and other causes of altered mental status were suspected.
*Serum ammonia level*
- The patient has known **hepatic encephalopathy**, and her current confusion is likely multifactorial.
- While an elevated ammonia level supports the diagnosis of hepatic encephalopathy, it is not diagnostic for the *cause* of her acute deterioration and would not rule out SBP, which requires urgent diagnosis and treatment.
*Esophagogastroduodenoscopy*
- The patient has a history of esophageal varices, but there is no evidence of active gastrointestinal bleeding (e.g., melena, hematemesis, guaiac positive stool).
- An **EGD** would be indicated for acute variceal bleeding, but it is not the most immediate or relevant diagnostic step for her current acute presentation of fever, abdominal pain, and confusion.
Question 145: A 46-year-old man comes to the emergency department because of a 10-day history of right upper quadrant abdominal pain. He has also been feeling tired and nauseous for the past 6 weeks. On examination, scleral icterus is present. Abdominal examination shows tenderness to palpation in the right upper quadrant. The liver edge is palpated 2 cm below the right costal margin. Laboratory studies show:
Aspartate aminotransferase 1780 U/L
Alanine aminotransferase 2520 U/L
Hepatitis A IgM antibody Negative
Hepatitis B surface antigen Negative
Hepatitis B surface antibody Negative
Hepatitis B core IgM antibody Positive
Hepatitis C antibody Positive
Hepatitis C RNA Negative
Which of the following is the best course of action for this patient?
A. Supportive therapy (Correct Answer)
B. Ribavirin and interferon
C. Pegylated interferon-alpha
D. Tenofovir
E. Emergency liver transplantation
Explanation: ***Supportive therapy***
- The patient's presentation with **severe acute hepatitis B**, based on significantly elevated transaminases (AST 1780, ALT 2520), jaundice, and RUQ pain, in the setting of positive **Hepatitis B core IgM antibody** with negative HBsAg, indicates acute Hepatitis B infection in the **window period**.
- For acute Hepatitis B in immunocompetent adults, the primary initial treatment is **supportive care with close monitoring**, as most patients clear the infection spontaneously (>95% of adults).
- Antiviral therapy (tenofovir or entecavir) is reserved for patients with **evidence of acute liver failure** (elevated INR, hepatic encephalopathy, severe coagulopathy) or prolonged severe hepatitis with signs of impending decompensation. Since this patient does not have documented synthetic dysfunction, supportive care with monitoring is the initial approach.
*Ribavirin and interferon*
- This combination was previously used for **chronic Hepatitis C infection**, not acute Hepatitis B.
- The patient has positive Hepatitis C antibody but **negative Hepatitis C RNA**, indicating either **resolved past Hepatitis C infection** or false positive antibody test, not active HCV infection requiring treatment.
*Pegylated interferon-alpha*
- Pegylated interferon-alpha is used for **chronic Hepatitis B and C**, but it is **not indicated for acute Hepatitis B** as initial therapy.
- Acute HBV infection typically resolves spontaneously in immunocompetent adults without need for interferon therapy.
- This agent has significant side effects and has been largely supplanted by direct-acting antivirals for chronic disease.
*Tenofovir*
- **Tenofovir** is an effective **nucleoside analogue for chronic Hepatitis B**, and while it can be used in acute HBV, it is generally **not indicated initially** unless there are signs of **acute liver failure** (elevated INR >1.5, encephalopathy, severe coagulopathy).
- Given that this patient's presentation shows severe acute hepatitis but no documented evidence of synthetic dysfunction or liver failure, initial management is supportive care with close monitoring for potential need to escalate to antiviral therapy.
*Emergency liver transplantation*
- **Emergency liver transplantation** is indicated for **fulminant hepatic failure** with criteria including severe coagulopathy (INR >6.5), high-grade hepatic encephalopathy (grade III-IV), cerebral edema, or multi-organ failure despite maximal medical management.
- This patient has severe acute hepatitis with elevated transaminases but no documented evidence of fulminant failure, encephalopathy, or irreversible hepatic synthetic dysfunction that would warrant transplant evaluation at this stage.
- The acute viral hepatitis has potential for spontaneous recovery with supportive care.
Question 146: A 48-year-old woman comes to the emergency department because of a photosensitive blistering rash on her hands, forearms, and face for 3 weeks. The lesions are not itchy. She has also noticed that her urine has been dark brown in color recently. Twenty years ago, she was successfully treated for Coats disease of the retina via retinal sclerotherapy. She is currently on hormonal replacement therapy for perimenopausal symptoms. Her aunt and sister have a history of a similar skin lesions. Examination shows multiple fluid-filled blisters and oozing erosions on the forearms, dorsal side of both hands, and forehead. There is hyperpigmented scarring and patches of bald skin along the sides of the blisters. Laboratory studies show a normal serum ferritin concentration. Which of the following is the most appropriate next step in management to induce remission in this patient?
A. Begin phlebotomy therapy
B. Pursue liver transplantation
C. Begin oral thalidomide therapy
D. Begin subcutaneous deferoxamine therapy
E. Begin oral hydroxychloroquine therapy (Correct Answer)
Explanation: ***Begin oral hydroxychloroquine therapy***
- This patient has classic **porphyria cutanea tarda (PCT)**: photosensitive blistering rash on sun-exposed areas, skin fragility with hyperpigmented scarring, dark urine (excess porphyrins), and positive family history.
- The key clinical detail is **normal serum ferritin**. In PCT with normal or low iron stores, **low-dose hydroxychloroquine (or chloroquine)** is the preferred first-line therapy rather than phlebotomy.
- Hydroxychloroquine mobilizes hepatic porphyrins and promotes their renal excretion, effectively inducing remission in PCT without requiring iron depletion.
- This approach avoids unnecessary iron depletion in a patient who doesn't have iron overload.
*Begin phlebotomy therapy*
- **Phlebotomy** is the traditional first-line treatment for **PCT** when patients have **elevated iron stores** (high ferritin).
- It works by reducing hepatic iron, which decreases oxidative stress on uroporphyrinogen decarboxylase (UROD), the deficient enzyme in PCT.
- However, this patient has **normal serum ferritin**, indicating no significant iron overload. Phlebotomy would provide no therapeutic benefit and could cause unnecessary anemia.
- In PCT patients with normal iron stores, **hydroxychloroquine is preferred** over phlebotomy.
*Pursue liver transplantation*
- **Liver transplantation** is reserved for end-stage liver disease or severe acute hepatic porphyrias with life-threatening recurrent attacks.
- This patient has chronic cutaneous manifestations without evidence of hepatic failure or severe systemic complications.
- Transplantation is not indicated for uncomplicated PCT, which responds well to medical management.
*Begin oral thalidomide therapy*
- **Thalidomide** is an immunomodulatory agent used for multiple myeloma, erythema nodosum leprosum, and certain dermatologic conditions.
- It has **no role** in PCT management and does not address the underlying porphyrin metabolism defect.
- Standard treatments (hydroxychloroquine or phlebotomy) are well-established and effective for PCT.
*Begin subcutaneous deferoxamine therapy*
- **Deferoxamine** is an iron chelator used for systemic iron overload (hemochromatosis, transfusional hemosiderosis).
- While PCT can be associated with increased hepatic iron, this patient has **normal ferritin**, making iron chelation unnecessary and inappropriate.
- Deferoxamine does not directly address porphyrin metabolism and is not used in PCT management when hydroxychloroquine and phlebotomy are available and effective.
Question 147: A previously healthy 36-year-old man comes to the physician for a yellow discoloration of his skin and dark-colored urine for 2 weeks. He does not drink any alcohol. Physical examination shows jaundice. Abdominal and neurologic examinations show no abnormalities. Serum studies show increased levels of alanine aminotransferase (ALT) and aspartate aminotransferase (AST). A liver biopsy is performed and a photomicrograph after periodic acid-Schiff-staining is shown. Which of the following is the most likely additional finding in this patient?
A. Bullous changes of the lung bases on chest CT (Correct Answer)
B. Myocardial iron deposition on cardiovascular MRI
C. Beading of intra- and extrahepatic bile ducts on ERCP
D. Tropheryma whipplei-specific RNA on PCR
E. Dark corneal ring on slit-lamp examination
Explanation: ***Bullous changes of the lung bases on chest CT***
- The image shows **periodic acid-Schiff (PAS)-positive, diastase-resistant globules** in hepatocytes, characteristic of **alpha-1 antitrypsin deficiency (AATD)**.
- AATD primarily affects the **lungs** (leading to early-onset emphysema with bullous changes) and the **liver** (causing cirrhosis due to accumulation of misfolded AAT protein).
*Myocardial iron deposition on cardiovascular MRI*
- **Myocardial iron deposition** is characteristic of **hemochromatosis**, indicated by high levels of various iron studies, including ferritin, transferrin, and iron saturation. Iron accumulation does not lead to PAS-positive, diastase-resistant globules.
- **Hemochromatosis** presents with symptoms like fatigue, arthralgia, diabetes, and heart failure, which are not described in the patient.
*Beading of intra- and extrahepatic bile ducts on ERCP*
- **Beading** on ERCP is a hallmark of **primary sclerosing cholangitis (PSC)**, a chronic cholestatic liver disease often associated with inflammatory bowel disease.
- PSC typically presents with cholestatic jaundice, but not with **PAS-positive, diastase-resistant globules** in hepatocytes, and is not linked to lung bullae.
*Tropheryma whipplei-specific RNA on PCR*
- The presence of **Tropheryma whipplei-specific RNA** is diagnostic for **Whipple disease**, a systemic bacterial infection primarily affecting the small intestine, but can also involve joints, heart, and brain.
- While Whipple disease can cause gastrointestinal symptoms and malabsorption, it does not lead to **PAS-positive, diastase-resistant globules** in the liver.
*Dark corneal ring on slit-lamp examination*
- A **dark corneal ring (Kayser-Fleischer ring)** is an ocular sign of **Wilson disease**, an inherited disorder of copper metabolism leading to copper accumulation in the liver, brain, and other organs.
- Wilson disease is characterized by hepatic and neurologic symptoms, but it does not cause **PAS-positive, diastase-resistant globules** in the liver.
