Resident Case of the Week: Hereditary Pancreatitis

Radiology Resident Case of the Week

Disease: Hereditary Pancreatitis

February 16, 1996

Eric Fitzcharles
Peer Review Status:

Clinical Sx:
Recurrent abdominal pain since childhood or infancy, possibly precipitated by meals, lasting two to seven days. Attacks can occur every few weeks to every few years. Pain starts epigastric, but later involves the entire abdomen an d radiates to the back. Severity and frequency of attacks improves with age.

Etiology/Pathophysiology:
First described in 1952, autosomal dominant gene with incomplete penetrance. Males and females equally affected with all reported cases in caucasians. Etiology is unknown, but many patients have congenital malformatio ns of the ductal system or sphincter of Oddi. It has been linked with hyperthyroidism, hyperlipoproteinemia, and aminoaciduria. Grossly, the pancreas resembles that seen in cystic fibrosis: induration, ductal dilation, fibrosis, preservation of islet c ells.

Pathology:
As above.

Miscellaneous:
Diagnosis requires history of recurrent abdominal pain in at least three relatives. Course of the disease can be relatively benign if well treated, although there is reported 20-40% risk of pancreatic carcinoma in these patients. Increased risk of portal and splenic vein thrombosis.

Imaging:

similar to that or nonhereditary pancreatitis, with the exception that 50% eventually develop pseudocysts and over 50% get pancreatic calcifications and duct calculi, some as early as the second decade. pancreatic calcifications are la rger and more rounded than in other conditions such as CF. acute pancreatitis findings on US include hypoechogenicity, ductal dilatation, fluid collections, hemorrhage, ascites, and enlarged and ill-defined pancreas. CT findings include the above as well as lack of enhancement when necrosis is present. ERCP sho ws irregular ductal dilatation and beading. chronic pancreatitis may show calcifications, atrophy, fibrosis, ductal dilatation, and biliary stricture, as well as any sequellae from pseudocysts.

DDx: cystic fibrosis, hyperlipidemia, kwashiorkor, viral infection, congenital structural abnormality such as divisum or choledochocele. Key references:
Dahnert, Radiology Review Manual, 1989. Gryboski, Walker, Gastrointestinal Problems in the Infant, 2nd ed., 1983. Spencer JA, Lindsell DRM, Isaacs D, Hereditary Pancreatitis: early ultrasound appearance, Pediatric Radiology (1990) 20:293-295. Silverman, Kuhn, Caffeys Pediatric Xray Diagnosis, 9th ed., 1992.

ACR Code:
770.291

Keywords:
pancreatitis, acute pancreatitis, chronic pancreatitis, hereditary pancreatitis, familial pancreatitis

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