Abstract
Pancreatitis in both acute and chronic variants is a common health concern in the US as well as globally. While the most common etiologies for disease remain gallstone impaction in the common bile duct and alcohol abuse, recent studies have shown that genetics may play a significant role as well. Unfortunately, this correlation is not clearly defined and at present, we lack the ability to identify which patients with known pancreatic genetic polymorphisms will develop pancreatitis. We describe the case of a middle-aged male who presented with recurrent pancreatitis in the setting of the serine peptidase inhibitor, Kazal type 1 (SPINK-1) genetic polymorphism. Additionally, we discuss the mechanism behind SPINK-1 polymorphisms in the development of pancreatitis as well as the role of genetic screening for the polymorphism in the general population.
Highlights
With the annual incidence of acute pancreatitis in the United States ranging from 4.9 to 35 per 100,000 persons, the condition remains a very common and costly healthcare concern [1]
We describe the case of a middle-aged Caucasian male with a serine peptidase inhibitor, Kazal type 1 (SPINK-1) polymorphism who presented with his eighth episode of acute pancreatitis within the span of one year [Abstract: Leon D
While many of the extrinsic etiologies for acute and chronic pancreatitis are known, genetic components should not be excluded, especially in those presenting with acute episodes at younger ages (20’s vs. 30’s) or recurrent episodes after appropriate lifestyle modifications
Summary
With the annual incidence of acute pancreatitis in the United States ranging from 4.9 to 35 per 100,000 persons, the condition remains a very common and costly healthcare concern [1]. We describe the case of a middle-aged Caucasian male with a serine peptidase inhibitor, Kazal type 1 (SPINK-1) polymorphism who presented with his eighth episode of acute pancreatitis within the span of one year [Abstract: Leon D. A 56-year-old male with a past medical history significant for chronic pancreatitis with heterogeneous SPINK-1 mutation (tested for at age 27 due to recurrent episodes of acute pancreatitis) presented with severe left lower quadrant (LLQ) abdominal pain. The patient had a remote alcohol and smoking history though he denied any use within the past 20 years, and he recently became a vegan in an attempt to reduce his risk for recurrent acute episodes of pancreatitis. How to cite this article Averbukh L D, Mavilia M G (January 08, 2019) SPINK-1 Polymorphism as a Pancreatitis Risk Factor.
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