Celiac Disease Associated With Aplastic Anemia in a 6-Year-Old Girl

A Case Report and Review of the Literature

Omar Irfan; Sana Mahmood; Heera Nand; Gaffar Billoo


J Med Case Reports. 2018;12(16) 

In This Article


Celiac disease (CD) is an autoimmune disease characterized by reversible small bowel mucosal inflammation with villous atrophy causing malabsorption.[1] It causes malabsorption of iron, folic acid, and/or vitamin B12, with additional features of anemia of chronic disease.[2] Many hematological manifestations, mostly due to nutritional deficiencies, have been associated with CD;[2] however, the occurrence of aplastic anemia (AA) is extremely rare. There is a known association between CD and AA as both have a similar pathological process involving autoreactive T cell destruction of tissue.[3] Both diseases share an underlying immune mechanism as the human leukocyte antigen (HLA) DQ2 allele is identified in 90 to 95% of celiac individuals, and HLA DQ8 in the rest.[1] The cumulative risk for development of various autoimmune diseases is 8.1% at 15 years of age in patients with CD.[4] Previously, there have been three reported pediatric cases of AA in association with CD as compared to more data for adults.[5] We report the case of a 6-year-old girl with CD and AA causing bone marrow failure. This is the fourth report in the literature to date that suggests an association of AA with CD in the pediatric population.