Refractory or recurrent iron deficiency anemia: Explore before you prick

A 10-year-old well grown boy, first by birth order, born of non-consanguineous marriage was referred for recurrent microcytic, hypochromic anemia temporarily responding to iron supplementation. He had multiple bluish patches on the sole of foot, calf muscle, and abdomen [Figure 1] and bony enlargement of scapula [Figure 2]. Weight and height was at 10^th centile. Stool for occult blood was positive. Endoscopy revealed similar lesions in GI mucosa. His anemia improved and lesions reduced in size on iron supplementation and propranolol.

Close

Figure 1:

Nevus present as soft, non-mobile, dark blue, compressible papules, as shown by black arrows.

Export to PPT

Close

Figure 2:

Bony deformity.

Export to PPT

Blue rubber bleb nevus syndrome is a rare disorder with vascular malformations in skin, soft tissue, and gastrointestinal tract inherited in autosomal dominant fashion. Most patients present with chronic refractory microcytic, hypochromic anemia, and rarely massive GI bleed can occur. Bony abnormalities occur secondary to pressure from adjacent hemangiomas or due to hypervascularity. Gastrointestinal lesions may require antiangiogenic agents or endoscopic management. For all refractory anemias, extensive examination and search for site of blood loss should be done. In disorders such as blue rubber bleb nevus syndrome, targeted treatment strategies can be planned depending on the extent of involvement.