Abstract
Introduction: Cystic fibrosis is an autosomal recessive condition caused by a deletion on the cystic fibrosis transmembrane conductance regulator (CFTR) gene (F508del) on chromosome 7. While carriers of one CFTR gene mutation are often asymptomatic, compound heterozygous mutations of the CFTR gene is 1 of the 3 genetic mutations associated with hereditary pancreatitis. We present a case of a patient with CFTR gene mutation causing a large pancreatic stone requiring multidisciplinary management. A 24-year-old man presented to our clinic for a second opinion consultation for increasing frequency of acute recurrent pancreatitis since age 11. He previously underwent endoscopic retrograde cholangiopancreatography (ERCP) with failed pancreatic duct (PD) stenting due to stent migration and post-ERCP pancreatitis. Due to his frequent episodes of debilitating pain, patient had developed a dependence on hydromorphone, marijuana, and illegally obtained psychotropic medications. On subsequent work-up, patient was found to have 2 pathogenic mutations on his CFTR gene: one severely pathogenic (F508del) and one mildly pathogenic (2789+2insA). This combination is thought to cause pancreatitis or other forms of atypical cystic fibrosis. ERCP showed distal PD dilation to 9 mm with multiple filling defects. The proximal PD was obstructed by a large 29 mm PD stone within the proximal neck/distal body of the pancreas. Multiple small stones were removed via balloon sweep, but attempted pancreatoscopy of the largest stone was unsuccessful. After a subsequent attempt with stent placement failed to alleviate symptoms, repeat ERCP was done with extracorporeal shockwave lithotripsy (ESWL). Balloon sweep only delivered a small amount of stone debris but occlusion pancreatogram did not show delineation of the prior stone. The patient remained symptomatic and subsequent ERCPs were unsuccessful in advancing a guidewire into the PD across the neck/body region. The patient eventually required operative management to decompress the dilated pancreatic duct and successfully underwent a Frey procedure. On 8-month follow-up, the patient is pain free and has begun rehabilitation. He is no longer using illicit substances and has regained a BMI of 24.2 kg/m3 from a nadir of 18.5 kg/m3 prior to the procedure. Hereditary pancreatitis is an uncommon disorder caused by mutations in the SPINK, PRSS, and CFTR genes leading to significant physical and psychiatric distress from recurrent pancreatitis. Genetic testing should be undertaken in cases of undiagnosed recurrent pancreatitis. While many patients can be managed endoscopically, alternative interventions such as ESWL and surgical management must be considered in difficult cases.
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