Pancreatic Insufficiency, Exocrine

Key Features

• Failure to thrive

• Diarrhea

• Fatty stools

• Absence of respiratory symptoms

Clinical Findings

• Associations of exocrine pancreatic insufficiency include

  • Aplastic alae

  • Aplasia cutis

  • Deafness (Johanson-Blizzard syndrome)

  • Sideroblastic anemia

  • Developmental delay

  • Seizures

  • Liver dysfunction (Pearson bone marrow pancreas syndrome)

  • Duodenal atresia or stenosis

  • Malnutrition

  • Pancreatic hypoplasia or agenesis

Diagnosis

• Laboratory findings include a normal sweat chloride; low fecal pancreatic elastase 1; and low to absent pancreatic lipase, amylase, and trypsin levels on duodenal intubation

• CT examination of the pancreas demonstrates the widespread fatty replacement

• Genotyping of the SBDS gene is available

• Serum immunoreactive trypsinogen levels are extremely low

Treatment

• Pancreatic enzyme and fat-soluble vitamin replacement are required therapy in most patients

• Hematopoietic stem cell transplantation should be considered in patients with myelodysplasia syndrome