Familial hyperamylasemia

Abstract

A 7-year-old white boy was referred to us with a history of 3 attacks of hypogastric pain over the previous 2 years and persistently elevated serum amylase concentrations. At physical examination, he was well with no evidence of clinical abnormalities. His weight and height were normal. Laboratory diagnostic investigations were all normal except for the presence of Ascaris lumbricoides in the feces and persistently elevated serum amylase levels. Serum amylase determinations in the family members were normal in his father and maternal grandmother but elevated in his mother, sister, maternal aunt, and uncle, all of whom asymptomatic. Macroamylasemia was excluded in the child and in the mother. The finding of persistently elevated amylasemia in the child and in the other family members spanning 3 generations, and the exclusion of diseases that lead to hyperamilasemia are consistent with the diagnosis of familial hyperamylasemia. Until now, only 1 similar case has been reported. Familial hyperamylasemia must be considered in the differential diagnosis of hyperamylasemias in childhood.

Establishment of biochemistry reference values for healthy Tanzanian infants, children and adolescents in Kilimanjaro Region

“…Coeliac disease and cystic fibrosis are two diseases that would typically be entertained in a paediatric patient with persistent pancreatic hyperenzymemia , but again, we would expect our patients to show some minimal symptoms or signs if this were the case. Finally, familial hyperamylasaemia is also described in case reports and points to an autosomal dominant pattern of inheritance . Regardless of the aetiology of the hyperenzymemia, especially the hyperamylasaemia these values represent the reference ranges for our Tanzanian paediatric population and may represent no pathology whatsoever.…”

Benign pancreatic hyperenzymemia in children

“…However there are two studies [3,12] in which a possible case of familial hyperamylasemia in children was described. These two cases, however, are different from the cases described in our study because the hyperamylasemia in the above two studies was not associated with a serum increase in the other pancreatic enzymes, as occurred in the children described in the present study.…”