HEREDITARY PANCREATITIS: THREE NEW KINDREDS AND A CRITICAL REVIEW OF THE LITERATURE

Abstract

Hereditary pancreatitis (HP) is a recently described autosomal dominant disorder of unkown etiology. Symptoms usually begin in childhood, but generally are diagnosed only when pancreatic insufficiency and calcifications appear in the young adult age group. Clinical manifestations include recurrent acute attacks of excruciatingly severe abdominal pain with intercurrent symptomfree periods. In addition to the positive family history there are definite differences in sex incidence, age of onset, occurrence of etiologic factors (e.g., alcoholism, gallstones), and pancreatic pathology between HP and chronic relapsing pancreatitis of adults. In the course of the disease various complications (e.g., glucose intolerance, pseudocysts, etc.) may occur in HP, but less commonly than in classical adult pancreatitis. Three new kindreds with 30 definite and 51 suspected cases of HP, representing more than one-third of all previously reported cases, are presented with detailed investigations of pancreatic and parathyroid function, serum lipids, pathologic specimens, and urinary amino acids. These studies clearly separate HP from diseases otherwise associated with pancreatitis. With these three and the 18 previously reported kindreds, it is evident that HP is not a rare disease and is the most common cause of recurrent pancreatitis in childhood. It should be included in the differential diagnosis of recurrent abdominal pain and pancreatic calcifications in the pediatric age group.