Erythropoietin-deficient anemia associated with autoimmune polyglandular syndrome type I

Autoimmune polyglandular syndrome type I (APS1), a relatively common disorder in some populations, is frequently associated with adrenal insufficiency, hypoparathyroidism, and other endocrine and skin abnormalities. We describe an 18-year-old male with APS1, as documented by genotyping, who presented with hypoparathyroidism and a normocytic, hypoproliferative, isolated anemia. An extensive hematological work-up revealed a low serum erythropoietin, without any other hematological abnormalities. His renal function was normal, and he did not have many of the laboratory or clinical findings associated with an anemia of chronic disease. His anemia was responsive to superphysiologic doses of erythropoietin. We thus suggest that erythropoietin deficiency may be one of the endocrine abnormalities associated with APS1, and clinicians should be cognizant of the association of treatable anemia in patients with APS1.