A Rare Cause of Iron Deficiency Anemia

According to the National Family Health Survey 5, 67.1% of children in India aged 6-59 months are anemic – iron deficiency anemia (IDA) is the most common cause. 

A 9-year-old boy presented with progressive pallor and shortness of breath over the past 15 days. 

The child had a rare form of IDA. There was no history of abdominal pain, fever, weight loss, worm infestation, or bleeding. Despite repeated courses of oral iron and folic acid supplements, his hemoglobin levels dropped each time after discontinuation. 

On examination, he had significant pallor without lymphadenopathy or hepatosplenomegaly. Several bluish-black nodules were observed on his soles, palms, and face. 

Laboratory tests showed a hemoglobin level of 4.3 g/dL, low serum iron and ferritin, and a stool sample positive for occult blood.

He received a red cell transfusion. An esophagogastroduodenoscopy revealed multiple venous malformations, confirmed by colonoscopy. These findings led to a diagnosis of blue rubber bleb nevus syndrome (BRBNS)––a rare disorder of venous malformations affecting the skin and gastrointestinal (GI) tract. In this case, the diagnosis was arrived upon after nearly five years post-initial presentation.

Endoscopic or surgical resection was not advisable as the child had multiple lesions. He was restarted on oral iron supplements, and diligent follow-ups were planned. 

BRBNS can cause chronic GI bleeding, leading to anemia. Treatment varies based on symptoms. Asymptomatic patients with anemia can be managed with iron and folic acid supplements, while endoscopic procedures may be necessary in more severe cases, such as – band ligation, sclerotherapy, polypectomy, or argon laser––can be offered to those with limited GI involvement.

Pharmacological treatments, including steroids, interferon alpha, and newer agents like sirolimus, have shown promise in reducing GI bleeding. Despite management, recurrence is possible, especially if the lesions are not fully extracted.

Source: Barnwal S, Aggarwal P, Gupta V. Indian pediatrics.:S097475591600681.