What is Relevant on Genetics in Chronic Pancreatitis for Clinical Practice?
What Genes and When to Evaluate Them?
Jonas Rosendahl
Department of Internal Medicine I, Martin Luther University, Halle-Wittenberg, Germany
Search for more papers by this authorJonas Rosendahl
Department of Internal Medicine I, Martin Luther University, Halle-Wittenberg, Germany
Search for more papers by this authorJ. Enrique Domínguez-Muñoz MD, PhD
Director
Department of Gastroenterology and Hepatology, University Hospital of Santiago de Compostela, Santiago de Compostela, Spain
Search for more papers by this authorSummary
The first pedigree of a family with hereditary chronic pancreatitis was described in 1952. Thereafter, in 1996 the first genetic association with chronic pancreatitis (CP) was identified in the cationic trypsinogen gene. Since then, several genetic associations have been found that have improved our understanding of CP as a complex disorder. The current knowledge of genetic associations in CP impacts our clinical practice. This chapter summarizes which genes should be analyzed in patients with CP and which associations need to be taken into account when patients are screened. Especially in patients with early-onset CP, the diagnosis of cystic fibrosis needs to be ruled out. The diagnostic work-up should be performed in line with current recommendations. Several studies have reported an increased risk for pancreatic cancer in patients with CP that seems to be highest in patients with inherited CP.
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