A 26-year-old woman is evaluated in the ER for diffuse abdominal pain and nausea. The pain started 1 day ago and is currently at its maximum intensity. She denies fever but has noticed constipation and dark urine. She had similar episodes in the past and underwent appendectomy and cholecystectomy on two different occasions. On physical examination, she is tachycardic with diffuse abdominal tenderness but no rebound tenderness. Her bowel sounds are slightly sluggish. On neurological examination, she has decreased sensation to fine and crude touch in both lower extremities up to her knees. Her hemoglobin, WBC, and platelet count are normal. She has mild transaminitis with alanine transaminase (ALT) 123 IU/L, aspartate transaminase (AST) 160 IU/L, and alkaline phosphatase (ALP) 122 IU/L. Urine is red but urine dipstick is negative for blood, leukocyte esterase, nitrite, glucose, or protein. Urine porphobilinogen and total porphyrin level are elevated, plasma porphyrin level is normal. What is the most likely explanation of her recurrent symptoms?
A 26-year-old woman is evaluated in the ER for diffuse abdominal pain and nausea. The pain started 1 day ago and is currently at its maximum intensity. She denies fever but has noticed constipation and dark urine. She had similar episodes in the past and underwent appendectomy and cholecystectomy on two different occasions. On physical examination, she is tachycardic with diffuse abdominal tenderness but no rebound tenderness. Her bowel sounds are slightly sluggish. On neurological examination, she has decreased sensation to fine and crude touch in both lower extremities up to her knees. Her hemoglobin, WBC, and platelet count are normal. She has mild transaminitis with alanine transaminase (ALT) 123 IU/L, aspartate transaminase (AST) 160 IU/L, and alkaline phosphatase (ALP) 122 IU/L. Urine is red but urine dipstick is negative for blood, leukocyte esterase, nitrite, glucose, or protein. Urine porphobilinogen and total porphyrin level are elevated, plasma porphyrin level is normal. What is the most likely explanation of her recurrent symptoms?
💡 Explanation
**Question:** A 26-year-old woman presents with recurrent abdominal pain, nausea, constipation, dark urine, and decreased sensation in her lower extremities. She has a history of appendectomy and cholecystectomy, and currently shows transaminitis, elevated urine porphobilinogen and total porphyrin levels, and normal plasma porphyrin level. Given her symptoms and past surgeries, what is the most likely diagnosis?
A. Hepatitis
B. Porphyria
C. Inflammatory bowel disease
D. Chronic pancreatitis
**Correct Answer:** B. Porphyria
In this question, we are presented with a patient who presents with recurrent abdominal pain, nausea, constipation, dark urine, and decreased sensation in her lower extremities. She has a history of appendectomy and cholecystectomy, indicating prior abdominal surgeries. The patient exhibits transaminitis (elevated ALT and AST), which suggests liver involvement. Additionally, she presents with elevated urine porphobilinogen and total porphyrin levels, while her plasma porphyrin level is normal.
The patient's clinical picture and laboratory findings lead us to consider a condition characterized by abnormal accumulation of porphyrins in the body, specifically affecting the liver and causing the aforementioned symptoms. Among the given options, the most suitable diagnosis is:
**A. Hepatitis** is an inflammation of the liver, which can result in elevated liver enzymes but does not typically cause the described symptoms and porphyrin abnormalities.
**C. Inflammatory bowel disease** like Crohn's disease or ulcerative colitis, while causing abdominal pain and constipation, does not typically result in transaminase elevations or urine porphobilinogen and total porphyrin elevation.
**D. Chronic pancreatitis** can cause abdominal pain and elevated amylase/lipase levels, not transaminases and porphyrin abnormalities.
The correct answer is **B. Porphyria**, which is a group of genetic disorders affecting the liver and causing symptoms like abdominal pain, nausea, constipation, dark urine, and elevated transaminases due to liver involvement. Additionally, porphyrias lead to elevated urine porphyrins like porphobilinogen (PBG) and total porphyrins.
In summary, the correct diagnosis for this patient is Porphyria, which is a group of genetic disorders affecting liver function and leading to the described symptoms and abnormal porphyrin levels. The other options do not match the patient's symptoms and laboratory findings.
✓ Correct Answer: C. Acute intermittent porphyria
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