DDSEP® 8 Quick Quiz

May 2019 - Question 2

Publish date: April 30, 2019

Q2. A 25-year-old male presents to the emergency department with severe epigastric pain and mild elevations in lipase (3 x ULN) diagnostic of acute pancreatitis. The patient describes multiple episodes of pain and associated pancreas enzyme elevations since early childhood that generally respond to brief hospitalizations and conservative treatment including intravenous fluids and IV analgesics. CT imaging reveals parenchymal calcifications seen throughout the pancreas. Further history discloses two relatives with similar pain attacks.

Which of the following gene mutations is most likely to be associated with the cause of the recurrent pancreatitis in this patient?

BRCA1

PRSS1

SPINK1

Delta F508

PRSS2

Q2. Correct Answer: B

Rationale:

The PRSS1 mutation has been shown to be the causative genetic factor in hereditary pancreatitis. Hereditary pancreatitis is an autosomal dominant gene mutation with 80% penetrance. Symptoms start in childhood with acute recurrent pancreatitis and progress to chronic pancreatitis, diabetes, and exocrine insufficiency. The incidence of pancreatic cancer is increased to 40% by age 70. BRCA1 mutations have been associated with familial pancreas cancer families. SPINK mutations have been associated with chronic tropical pancreatitis. Delta F508 is the most common mutation in cystic fibrosis that leads to pancreas insufficiency in childhood. The clinical scenario is classic for hereditary pancreatitis.

Reference

1. Shelton CA, Umapathy C, Stello K, Yadav D, Whitcomb DC. Hereditary pancreatitis in the United States: Survival and rates of pancreatic cancer. Am J Gastroenterol. 2018 Sep;113(9):1376-84.

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