Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib.
OBJECTIVE
The aim of this study was to characterize the frequency and causes of anemia in glycogen storage disease type I.


METHODS
Hematologic data and iron studies were available from 202 subjects (163 with glycogen storage disease Ia and 39 with glycogen storage disease Ib). Anemia was defined as hemoglobin concentrations less than the 5th percentile for age and gender; severe anemia was defined as presence of a hemoglobin <10 g/dl.


RESULTS
In glycogen storage disease Ia, 68/163 patients were anemic at their last follow-up. Preadolescent patients tended to have milder anemia secondary to iron deficiency, but anemia of chronic disease predominated in adults. Severe anemia was present in 8/163 patients, of whom 75% had hepatic adenomas. The anemia improved or resolved in all 10 subjects who underwent resection of liver lesions. Anemia was present in 72% of patients with glycogen storage disease Ib, and severe anemia occurred in 16/39 patients. Anemia in patients with glycogen storage disease Ib was associated with exacerbations of glycogen storage disease enterocolitis, and there was a significant correlation between C-reactive protein and hemoglobin levels (P = 0.036).


CONCLUSIONS
Anemia is a common manifestation of both glycogen storage disease Ia and Ib, although the pathophysiology appears to be different between these conditions. Those with severe anemia and glycogen storage disease Ia likely have hepatic adenomas, whereas glycogen storage disease enterocolitis should be considered in those with glycogen storage disease Ib.
Glycogen Storage Disease Program and Division of Pediatric Endocrinology, Department of Pediatrics, University of Florida, Gainesville, FL, USA. weinsda@peds.ufl.edu
David Q
DQ
Wang
Caroline T
CT
Carreras
Laurie M
LM
Fiske
Stephanie
S
Austin
Danielle
D
Boree
Priya S
PS
Kishnani
David A
DA
Weinstein
D000236:Adenoma / Q000097:blood / Q000150:complications / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D000740:Anemia / Q000097:blood / Q000150:complications / Q000473:pathology*; D002097:C-Reactive Protein / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004760:Enterocolitis / Q000097:blood / Q000150:complications / Q000473:pathology*; D005260:Female; D005953:Glycogen Storage Disease Type I / Q000097:blood / Q000145:classification / Q000150:complications / Q000473:pathology*; D006454:Hemoglobins / Q000378:metabolism; D006801:Humans; D007223:Infant; D007501:Iron / Q000097:blood; D000090463:Iron Deficiencies; D008113:Liver Neoplasms / Q000097:blood / Q000150:complications / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D012720:Severity of Illness Index
D006454:Hemoglobins; D002097:C-Reactive Protein; D007501:Iron