Pancreatites: congenital

The causes of acute pancreatitis are listed in the table.

Chronic pancreatitis is the result of repeated acute pancreatitis leading to chronic or recurrent abdominal pain (but the symptoms can remain minor for a long time), a progressive destruction of pancreatic parenchyma (stenosis and dilatation, lithiasis) and finally a decrease in its exocrine (malabsorption) and endocrine (diabetes mellitus) functions.

There are 4 congenital causes of acute and sometimes chronic pancreatitis. They involve the mutation of genes which play a key role in the pancreatic acinar cell homeostasis:

(1) the main mutation occurs in the PRSS1 gene (serine protease1 gene) (7q35) coding for cationic trypsinogen (autosomal dominant inheritance): this mutation induces a resistance of trypsin to auto-inactivation, which leads to a slow autodigestion of the pancreas. The first episodes occur at a young age and lead to chronic pancreatitis in 50 % of cases; there is a major risk of pancreatic cancer.
(2) other mutations are induced by an external agent (e.g. alcohol) or a factor associated with other genetic abnormalities.
These are:

* mutation in the SPINK1 gene (serine protease inhibitor Kazal1) on 5q32: the mutation prevents the inactivation of the active trypsin inhibitor in the pancreatic acinus; these mutations are often found as homo- or heterozygous, in idiopathic pancreatitis, tropical chronic pancreatitis and alcoholic pancreatitis.

* mutation of the CFTR gene (cystic fibrosis transmembrane conductance regulator) on 7q31, which leads to a deficient production of NaHCO3 at the level of the ductular pancreatic cells. This increases the viscosity of pancreatic juice, resulting in the formation of intraductal plugs. Numerous mutations can lead to typical or atypical cystic fibrosis (see this topic): only 1-2% of patients with cystic fibrosis with normal exocrine function will uffer episodes of acute pancreatitis.

* other mutations: mutation of the UDP glucuronosyltransferase (UGT1A7) at the pancreatic level, mutation of one of the enzymes (alcohol dehydrogenase 2 or 3, CYP2E1, glutathione-S-transferase..) which intervene in the metabolism of alcohol

Diagnosis of acute pancreatitis: abdominal pain, paralytic ileus, blood level of lipases exceeding 3 x normal level

Biliary obstruction: cholelithiasis, biliary tract cancer, trauma, sphincter of Oddi dysfunction

Malformation: annular pancreas, canal of Wirsung anomalies

Toxic: alcohol, scorpion sting

Drugs: azathioprine, anti-HIV (DDI)

Metabolic: hypertriglyceridemia, chronic renal failure

Ischemia: shock, trauma, post-ECC

Infection: mumps, Coxsackie, HIV, hepatitis, ascaris, Mycoplasma, salmonellosis, legionellosis

Genetics: mutations SPINK1, CFTR, PRRS1

Idiopathic: autoimmunity, associated with inflammatory bowel disease

Table: classification of causes of acute pancreatitis

Anesthetic implications:

- acute pancreatitis: hypovolemia, disorders of hemostasis, full stomach

- chronic pancreatitis: hypoproteinemia, malnutrition; in case of drainage of a pancreatic cyst in the stomach: emptying of gastric contents ?

References :

Grigorescu M, Grigorescu MD.
Genetic factors in pancreatitis.
Rom J Gastroenterol 2005; 14: 53-61.

Updated: March 2019