Cystic Fibrosis Gene Mutation Tied to Pancreatitis Risk

Last Updated: February 03, 2011.

Patients with pancreatic-sufficient cystic fibrosis carrying genotypes associated with mild phenotypes appear to be at an increased risk of developing pancreatitis as compared to patients with the disease carrying genotypes associated with moderate-severe phenotypes, according to a study published in the January issue of Gastroenterology.

Patients with pancreatic-sufficient cystic fibrosis (CF) carrying genotypes associated with mild phenotypes appear to be at an increased risk of developing pancreatitis as compared to patients with the disease carrying genotypes associated with moderate-severe phenotypes, according to a study published in the January issue ofGastroenterology.

Chee Y. Ooi, of The Hospital for Sick Children in Toronto, and colleagues identified 277 patients with pancreatic-sufficient CF from two CF population-based databases to assess whether genotypes of the CF gene (CFTR) determined the risk of pancreatitis.

The investigators found that patients with pancreatitis were more likely to have genotypes associated with mild (70 percent) as compared with moderate-severe (30 percent) pancreatic insufficiency prevalence (PIP) scores. The investigators also found that the cumulative proportion of patients who developed pancreatitis through age 50 years was significantly greater for genotypes associated with mild (50 percent) than moderate-severe (27 percent) PIP scores. Compared to patients without pancreatitis, patients with pancreatitis were diagnosed with CF at an older median age and had lower mean levels of sweat chloride.

"Specific CFTR genotypes are significantly associated with pancreatitis. Patients with genotypes associated with mild phenotypic effects have a greater risk of developing pancreatitis than patients with genotypes associated with moderate-severe phenotypes," the authors write


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Symptomatic pancreatitis in patients with cystic fibrosis and association with R117H

Am J Gastroenterol. 2009 Jun;104(6):1519-23. Epub 2009 May 12.

Symptomatic pancreatitis in patients with cystic fibrosis.

Gooding I, Bradley E, Puleston J, Gyi KM, Hodson M, Westaby D.

Department of Gastroenterology, Hammersmith Hospital, Du Cane Road, London, UK. ian_gooding@yahoo.co.uk

OBJECTIVES: A small group of cystic fibrosis (CF) patients develop symptomatic pancreatitis. The clinical characteristics of these cases are not well documented in the literature. Most cases are in pancreatic sufficient (PS) patients, but it is not clear whether pancreatitis does occur in pancreatic insufficient (PI) patients. There is no information on how the group with PS and pancreatitis differs from the group with PS that does not develop pancreatitis.

METHODS: The Royal Brompton Hospital database of adult CF patients was searched to identify all patients with symptomatic pancreatitis. Clinical details were taken from the case notes. PS pancreatitis patients were then compared with an age- and sex-matched PS control group drawn from the database.

RESULTS: Sixteen patients (9 males) had suffered symptomatic pancreatitis, representing 1.6% of the total database. The mean age at CF diagnosis was 18.7 years, and at presentation with pancreatitis it was 28.8 years. Twelve were PS at diagnosis of CF. At presentation with pancreatitis, seven patients were PS and at the most recent follow-up or death, two remained PS. There was a median of three hospital admissions with pancreatitis. Eight cases developed pancreatic or hepatobiliary complications. In the comparison of pancreatitis patients with controls, there was no difference in survival but pancreatitis patients were significantly more likely to develop PI status. Mild CF transmembrane conductance regulator mutations in general, and R117H in particular, were found more often in pancreatitis patients.

CONCLUSIONS: Symptomatic pancreatitis is a significant problem in 1-2% of patients with CF. These patients are PS at birth but are more likely to develop late PI status than PS patients without pancreatitis. R117H may be associated with this phenotype.

PMID: 19491865 [PubMed - in process]