Criteria:
(1) evidence of exocrine pancreatic dysfunction
(2) one or more hematologic abnormalities
Evidence of exocrine pancreatic dysfunction – one or more of the following:
(1) abnormal quantitative pancreatic stimulation test
(2) serum cationic trypsinogen below the lower limit of normal reference range
(3) abnormal 72 hour fecal fat analysis AND evidence of pancreatic lipomatosis on an imaging study
Hematologic abnormalities:
(1) chronic cytopenia (one or more lineages)
(2) myelodysplasia
where:
• A chronic cytopenia was present on 2 or more occasions at least 6 weeks apart).
• Neutropenia as defined as an absolute neutrophil count < 1,500 per microliter.
• Anemia was defined as a hemoglobin below the lower limit of the reference range.
• Thrombocytopenia was defined as a platelet count < 150,000 per microliter.
Supportive evidence:
(1) short stature
(2) skeletal abnormalities
(3) hepatic dysfunction
Need to exclude:
(1) cystic fibrosis
(2) Pearson syndrome
(3) celiac disease
(4) cartilage hair hypoplasia
