Abstract
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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 84-88 |
| Number of pages | 5 |
| Journal | American Journal of Hematology |
| Volume | 75 |
| Issue number | 2 |
| DOIs | |
| State | Published - Feb 2004 |
| Externally published | Yes |
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Keywords
- Anemia
- Autoimmune polyglandular syndrome
- Erythropoietin
ASJC Scopus subject areas
- Hematology
Cite this
Erythropoietin-Deficient Anemia Associated with Autoimmune Polyglandular Syndrome Type I. / Toonkel, Rebecca; Levine, Michael; Gardner, Lawrence.
In: American Journal of Hematology, Vol. 75, No. 2, 02.2004, p. 84-88.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Erythropoietin-Deficient Anemia Associated with Autoimmune Polyglandular Syndrome Type I
AU - Toonkel, Rebecca
AU - Levine, Michael
AU - Gardner, Lawrence
PY - 2004/2
Y1 - 2004/2
N2 - 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.
AB - 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.
KW - Anemia
KW - Autoimmune polyglandular syndrome
KW - Erythropoietin
UR - http://www.scopus.com/inward/record.url?scp=0742287901&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0742287901&partnerID=8YFLogxK
U2 - 10.1002/ajh.10441
DO - 10.1002/ajh.10441
M3 - Article
VL - 75
SP - 84
EP - 88
JO - American Journal of Hematology
JF - American Journal of Hematology
SN - 0361-8609
IS - 2
ER -