[Dutch patients with hereditary pancreatitis; high mutation frequency, relatively little pain].
OBJECTIVE
To assess genetic, clinical and morphological characteristics of hereditary pancreatitis, a rare type of chronic pancreatitis with an early onset of symptoms, which is, among others, caused by mutations in the PRSS1 gene.


METHODS
Observational cohort study.


METHODS
The study population consisted of 496 patients (27,375 person-years) who were referred to Radboud University Nijmegen Medical Centre for molecular diagnosis of hereditary pancreatitis during period 2000 to 2007. 61 patients with a positive family history of hereditary pancreatitis were selected. Analysis for PRSS1 gene mutations was performed by complete sequence analysis of the exons. All patients received a structured questionnaire.


RESULTS
From 25 families 61 patients were included (2,047 person-years). PRSS1 mutations were detected in 52 patients (85.2%): p.R122H (67.2%), p.N29I (14.8%), p.E79K (1.6%), p.N29T (1.6%). In the 40 patients whose clinical data were known the median age at diagnosis was 10.5 years (range: 0-42 years). Pain was reported in 28 (70% of 40 patients in whom all information was complete). 27 patients (67.5%) were admitted to the hospital once or more due to the attacks of pancreatitis. Exocrine and endocrine dysfunction was seen in 6 patients (15%). 24 patients (60%) had undergone a surgical intervention, 10 of whom had undergone a pancreaticojejunostomy. A family history of pancreatic carcinoma was found in 5 patients (12.5%).


CONCLUSIONS
The percentage of PRSS1 mutation was high (85.2%) among this Dutch population that was selected on basis of a positive family history of hereditary pancreatitis. Most patients had no chronic pain.
Universitair Medisch Centrum St. Radboud, afd. Maag-, Darm- en Leverziekten, Nijmegen, The Netherlands.
Monique H M
MH
Derikx
Rene H M
RH
te Morsche
Jan B M J
JB
Jansen
Joost P H
JP
Drenth
D017668:Age of Onset; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D009426:Netherlands / Q000453:epidemiology; D010146:Pain / Q000453:epidemiology* / Q000209:etiology; D010190:Pancreatic Neoplasms / Q000453:epidemiology / Q000235:genetics; D050500:Pancreatitis, Chronic / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D012720:Severity of Illness Index; D011795:Surveys and Questionnaires; D014357:Trypsin / Q000235:genetics*
C489303:PRSS1 protein, human; D014357:Trypsin