Abstract
Iron deficiency anemia (IDA) is the most common form of anemia in children, often attributed to nutritional deficiency or blood loss. However, refractory or severe anemia without apparent cause should raise suspicion for malabsorptive disorders such as celiac disease. We report a case of a 12-year-old female presenting with profound anemia (Hb 1.8 g/dL), who was subsequently diagnosed with celiac disease in the absence of gastrointestinal bleeding or menorrhagia. This case emphasizes the importance of considering celiac disease in children with unexplained IDA.
Introduction
Celiac disease is an immune-mediated enteropathy triggered by ingestion of gluten in genetically susceptible individuals. It frequently presents with non-classical symptoms, including iron deficiency anemia (IDA) without overt gastrointestinal manifestations. IDA may be the sole or initial presenting feature of celiac disease, especially in older children and adolescents [1,2]. Early recognition is essential for timely management and prevention of complications.
Case Presentation
A 12-year-old female presented to the pediatric outpatient clinic with a 3-month history of fatigue, exertional dyspnea, and decreased concentration. There was no history of menorrhagia, melena, hematochezia, or pica. The mother reported chronic abdominal bloating and intermittent loose stools over the past year. The patient had poor weight gain and was reported to be shorter than peers.
Physical Examination
- Pallor: Severe
- Vitals: HR 110/min, BP normal
- Anthropometry: Weight and height below the 5th percentile
- No hepatosplenomegaly or lymphadenopathy
Laboratory Investigations
| Test | Result | Reference Range |
| Hemoglobin | 1.8 g/dL | 11.5–15.5 g/dL |
| MCV | 66 fL | 80–96 fL |
| Serum Ferritin | 5 ng/mL | 12–200 ng/mL |
| Serum Iron | 12 µg/dL | 50–170 µg/dL |
| TIBC | 490 µg/dL | 250–450 µg/dL |
| Transferrin Saturation | 2% | 20–50% |
| Stool for occult blood | Negative | – |
| Anti-tTG IgA | Positive (high titer) | Negative |
| Total Serum IgA | Normal | – |
Peripheral smear revealed microcytic hypochromic red blood cells without any abnormal cells. Reticulocyte count was low, indicating hypoproliferative anemia.
Diagnosis
Based on laboratory findings and positive anti-tissue transglutaminase IgA antibodies, a diagnosis of celiac disease presenting with severe iron deficiency anemia was made.
Management
- Stabilization: The patient was admitted and transfused with packed red blood cells (PRBCs) at 10 mL/kg slowly over 4 hours, repeated until hemoglobin improved to a safer level.
- Nutritional Therapy: Once stable, oral iron supplementation (3 mg/kg/day elemental iron) was initiated.
- Dietary Modification: A strict gluten-free diet (GFD) was started with nutritional counseling provided to the family.
- Monitoring: Hemoglobin and iron profile were monitored every 4 weeks. At 8 weeks follow-up, the patient showed significant symptomatic improvement and a rise in hemoglobin to 9.6 g/dL.
Discussion
This case underscores an atypical presentation of celiac disease. While classically associated with chronic diarrhea and weight loss, many pediatric patients present solely with IDA [1]. The duodenum, where iron absorption predominantly occurs, is severely affected in celiac disease, resulting in iron malabsorption despite adequate intake [3]. The absence of GI bleeding, menorrhagia, or dietary insufficiency should prompt screening for celiac disease in children with severe or refractory IDA [2].
Early recognition and initiation of a gluten-free diet not only reverse anemia but also improve growth and development outcomes. Current guidelines recommend screening for celiac disease in children with unexplained IDA, especially when it is severe or unresponsive to oral iron therapy [4].
Conclusion
Celiac disease should be considered in all children presenting with severe or unexplained iron deficiency anemia, even in the absence of classical gastrointestinal symptoms. Prompt diagnosis and a gluten-free diet can lead to resolution of anemia and prevent long-term complications.
References
- Harper JW, Holleran SF, Ramakrishnan R, Bhagat G, Green PH. Anemia in celiac disease is multifactorial in etiology. Am J Hematol. 2007;82(11):996-1000.
- Fasano A, Catassi C. Clinical practice. Celiac disease. N Engl J Med. 2012;367(25):2419-2426.
- Deora V, Aylward N, Sokoro A, El-Matary W. Iron deficiency anemia and celiac disease in children: a prospective study. J Pediatr Hematol Oncol. 2021;43(6):e843-e847.
- Husby S, Koletzko S, Korponay-Szabó IR, et al. European Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines for the diagnosis of coeliac disease. J Pediatr Gastroenterol Nutr. 2012;54(1):136-160.
