274* Recurrent pancreatitis among cystic fibrosis (CF) patients at Stockholm CF Centre. Correlations with genotype

Abstract

Pancreatitis occurs mostly in CF patients with normal or reduced pancreatic function. Previous studies have revealed associations between CFTR mutations as well as SPINK1 variants and pancreatitis. Objectives: To determine the frequency of pancreatitis among CF patients attending Stockholm CF Centre and relate symptoms to laboratory findings/genotype. Methods: Patient records were examined regarding pancreatitis, genotype (CFTR and SPINK1), MR imaging and treatment. Pancreatitis has occurred in 5 of 230 CF patients (4 M). Mean age at diagnosis of pancreatitis was 25.2 (20−35) yrs. All patients were diagnosed having CF as adults except one (2 yrs of age). Two patients were pancreatic sufficient and 3 were partially insufficient. Their CFTR genotypes were: F508del/I506L, R117C/F5508del, S549I/S549I, S945L/T1086I, F508del/Y109N. One of them also has a SPINK1 variant (homozygocity for c.101A>G:p.Asn34SER), associated with pancreatitis in non-CF populations. All patients have been treated with oral mucolytics, pancreatic enzymes and UDCA during different periods of time and with varying results. However, a lower frequency of pancreatitis after having received the CF diagnosis and appropriate treatment was seen in those diagnosed having CF as adults. Conclusion: In our total CF patient population 2.2% had evidence of recurrent pancreatitis. The occurrence of SPINK1 variations in the Stockholm material is in progress. The only patient who so far has been shown to have SPINK1 variation is actually the youngest one having had pancreatitis. The result of the medications used is hard to evaluate due to the small number of patients, but in one case the effect of UDCA was convincing.