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


CD usually presents with long-standing anemia that may[3] be the only presenting symptom. Other hematological abnormalities include thrombocytosis, leukopenia, thromboembolism, and increased bleeding tendency. There may also be IgA deficiency, hyposplenism, and lymphoma. However, an association between CD and AA is seldom reported.[6] CD should always be considered in patients with hematological abnormalities even without any gastrointestinal manifestations (atypical CD). Diarrhea as a reported symptom is less frequent than before.[7]

Table 2 compares the studies done on the CD–AA association.

A total of 11 cases with CD–AA association have been reported in the literature, out of which three are pediatric cases. In two of these three pediatric cases, both diseases were diagnosed simultaneously but in the third patient the diagnosis of AA is unconfirmed as no bone marrow biopsy was performed.[8,9] The most recent case developed AA after a previous diagnosis of CD.[5] There have been eight adult cases reported out of which five were diagnosed with CD and AA simultaneously and three had CD previously.[5] The adult ages ranged from 23 to 47 years while the pediatric cases ranged from ages 9 to 13 years. All the adults were female while all the pediatric cases were male. We report the fourth case in the pediatric population and the first female pediatric patient with a CD–AA association. All four pediatric cases reported, including ours, are from India or Pakistan.

The mechanism of cause and effect regarding this is unclear. CD is an autoimmune condition that involves gluten exposure and it affects multiple organs like the bone marrow. Micronutrient deficiencies like iron, folic acid, and others, which occur due to malabsorption, may lead to the bone marrow hypoplasia. Hence, a gluten-free diet, micronutrient supplementation, and immunosuppressive techniques like glucocorticoids have a possible beneficial effect on bone marrow function. This is useful for patients from a lower socioeconomic class who find it difficult to afford bone marrow transplants or antithymocyte globulin therapy.[10]

All adult patients in a case series by Grey-Davies et al. were symptom-free from a gastrointestinal standpoint while adhering to a gluten-free diet.[3] A gluten-free diet decreases the exposure to antigenic stimuli that lead to bone marrow suppression and reverts the process.[8] Our patient was put on a gluten-free diet but due to infrequent follow ups it is difficult to comment on her dietary adherence. Timely immunosuppressive therapy for AA would also regulate development of other autoimmune diseases like CD.[3] There is a report of stabilization of CD in a pediatric patient after allogeneic hematopoietic stem cell transplantation[11] which further strengthens our decision to advise transplantation. It is likely that bone marrow transplant would improve her prognosis.