Ruona Ebiai, BSc1, Bradley S. Kapten, MD2, Olusola Olofinlade, MD2, Arti Khatri, MD2 1St. George's University, Great River, NY; 2University of Texas Health Science Center at Tyler/CHRISTUS GSMC, Longview, TX
Introduction: Hereditary Pancreatitis (HP) is a complex disease resulting in episodes of acute pancreatitis (AP) in childhood with predisposition for chronic pancreatitis (CP) in adulthood. Variants of SPINK1, one of the many genetic mutations responsible for HP, are found in 1-2% of the general population. However, it is extremely rare for SPINK1 mutations to cause pancreatitis, which occurs in less than 1% of carriers. Pancreatic cancer is the most feared complication, and, sadly, HP patients are 12 times more likely to develop malignancy.
Case Description/Methods: A 19-year-old female presented with four days of abdominal pain. Physical examination was notable for tenderness to palpation in the right upper abdominal quadrant. Laboratory studies were significant for lipase 5,819 IU/L, AST 49 IU/L, and ALT 66 IU/L. Lipid panel, alkaline phosphatase, bilirubin, alcohol, viral hepatitis panel, and IgG4 were all unremarkable. Ultrasound right upper quadrant showed no evidence of cholelithiasis or cholecystitis. CT abdomen pelvis with contrast showed mild edema surrounding the head and neck of the pancreas consistent with pancreatitis. MRCP showed normal pancreas and biliary system. Hereditary pancreatitis was suspected, and the patient received genetic testing with a resultant heterozygous SPINK1 mutation.
Discussion: Up to 30% of AP cases occur without a clear etiology despite extensive – and oftentimes invasive – work ups. However, patients with idiopathic AP have a high likelihood of having a genetic etiology (especially those with a first episode at less than 35 years of age). There are four main pathogenic variants of HP, including CFTR, CTRC, PRSS1, and SPINK1. A majority of SPINK1 variant patients never develop pancreatitis or symptoms, but in extremely rare cases, SPINK1 variant patients develop recurrent AP with progression to CP. Additionally, SPINK1 variant HP patients have up to a 20% risk of developing pancreatic cancer. Early clinical suspicion, diagnosing with genetic testing, and risk factor modification allows for change in the natural course of a patient's disease. Idiopathic AP pancreatitis in children and idiopathic CP in adults warrants a discussion of genetic testing.
Disclosures: Ruona Ebiai indicated no relevant financial relationships. Bradley Kapten indicated no relevant financial relationships. Olusola Olofinlade indicated no relevant financial relationships. Arti Khatri indicated no relevant financial relationships.
Ruona Ebiai, BSc1, Bradley S. Kapten, MD2, Olusola Olofinlade, MD2, Arti Khatri, MD2. P2138 - An Interesting Case of SPINK1 Hereditary Pancreatitis, ACG 2021 Annual Scientific Meeting Abstracts. Las Vegas, Nevada: American College of Gastroenterology.