Analysis index

1 – 3 ml EDTA-blood and declaration of consent

Suspicion of hereditary pancreatitis

Clinical suspicion is founded in case of positive familial anamnesis or chronic pancreatitis before the age of 25. Initial indications are abdominal problems mostly before the age of 10, possibly in combination with increased amylase and lipase concentration in the blood, familial disposition or repeat acute pancreatitis, which occur several times per year and usually last 5 – 10 days. The reason for this is a mutation in the cationic trypsinogen (TRYP1) gene of the heterozygous form. Until now, 16 amino acid substitutions as well as a TCC-deletion in the TRYP1 promotor have been described. Hereditary pancreatitis increases the risk of pancreas carcinoma x 50 – 60 in comparison to healthy persons. Smoking doubles the risk further. Missing mutation in the TRYP1 gene does not rule out hereditary pancreatitis. Mutations in the CFTR gene (Cystic fibrosis) and in the SPINK1/PSTI gene may also be responsible for hereditary pancreatitis. Differential diagnosis: Hereditary malformations of the pancreas, viral infections, drug-induced pancreatic damage, chronic alcohol abuse.

MVZ Dr. Eberhard & Partner Dortmund