Coeliac Disease Presenting as Chronic Neutropenia and Leukopenia in a 14‐Year‐Old

Abstract

Coeliac disease (CD) is an immune-mediated multisystem disorder due to gluten hypersensitivity. Common findings of CD include chronic diarrhoea, weight loss, short stature, iron and folate deficiency and delayed puberty.1, 2 Leukopenia and neutropenia are rare presenting features of CD.3, 4 We report a 14-year-old girl with neutropenia probably caused by CD resolving on a gluten-free diet (GFD). A previously healthy 14-year-old girl presented to her general practitioner with lethargy. Investigations revealed a normal haemoglobin and platelets, leukopenia (WCC 3.2 × 109/L), neutropenia (1.33 × 109/L) and low ferritin (18 μg/L). She was commenced on iron supplements. Repeat full blood count (FBC) in 4 months showed persistent leukopenia and neutropenia prompting a referral to a paediatric clinic in regional New South Wales. Further evaluation in clinic found no history of a viral infection or medications and no family history of a haematological disorder. Physical examination was unremarkable with no lymphadenopathy or hepatosplenomegaly; and the weight and height were at 25th and 75th percentiles. Subsequent FBCs, 8 and 11 months later demonstrated persistent leukopenia (3.6 and 3.1 × 109/L) and neutropenia (1.2 and 1.2 × 109/L). Blood picture, vitamin B12, folate, EBV and CMV serology, anti-neutrophil antibodies, ferritin and copper levels were normal. A presumptive diagnosis of benign chronic neutropenia was made, and in view of previous low ferritin coeliac serology was performed. Serum tTG IgA (>100 U/mL), anti-deamidated Gliadin IgG (80 U), anti-endomysial IgA (positive) were high. A duodenal biopsy revealed prominent villous atrophy with blunting and multiple intraepithelial lymphocytes (more than 30 lymphocytes per 100 enterocytes) suggestive of Marsh 3b type of CD. She was commenced on a GFD. An FBC 6 months after commencement of GFD revealed normal leukocyte and neutrophil counts and the coeliac antibodies were negligible. The causes of chronic neutropenia in children include congenital, cyclic, viral, medications, autoimmune, B12, folate, copper and zinc deficiency, and benign chronic. Neutropenia and leukopenia are uncommon manifestations in CD with only a few cases reported in literature.3, 4 Neutropenia in CD could be caused by deficiency of B12, folate, zinc and copper due to malabsorption of nutrients or else it could be due to autoimmunity. In our patient, B12, folate and copper levels were normal and zinc levels were not done. CD is an immune-mediated disease. In the absence of a nutritional deficiency, we postulate that an autoimmune reaction targeting clones of neutrophils or its precursors is the most likely cause of isolated leukopenia and neutropenia in our patient.4 Our case highlights that coeliac serology could be an important second-line investigation of children with persistent neutropenia. It also reiterates the famous medical maxim: uncommon presentations of common disease are more common than common presentations of uncommon disease.