Abstract
A family with hereditary pancreatitis is described. Nine family members definitely have had pancreatitis, whilst 15 more are suspected of having the disease. The condition presents as recurrent attacks of epigastric or central abdominal pain, sometimes radiating to the back, often associated with vomiting. The attacks of pain usually last three to four days. The inheritance fits well with an autosomal dominant pattern with limited penetrance, as it does in other families described in the literature. There is no aminoaciduria as has been described in some previously reported families. The attacks of pain start in childhood or young adult life (mean age of onset inthis family is 12-6 years) and appear to cease in this family by the age of 40 years. The diagnosis of pancreatitis in members of the family who have had confirmed pancreatitis was made by finding a raised serum amylase concentration in four cases, at laparotomy in four cases, and by pancreatic calcification seen on radiography in one case, The literature on the condition is reviewed, and it is speculated that the condition may have been underdiagnosed in Britain.
MeSH Terms
Abdomen
Abdomen, Acute/etiology
Adolescent
Adult
Age Factors
Aged
Alcohol Drinking
Amylases/blood
Calcinosis/diagnostic imaging
Child
Child, Preschool
England
Female
Gastrointestinal Hemorrhage/complications
Genes, Dominant
Humans
Laparotomy
Male
Middle Aged
Pain
Pancreatitis/complications,epidemiology,genetics
Pedigree
Recurrence
Urography
Vomiting/etiology
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Sibert J R
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17 references, click to expand
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