P322 Common things are common, except when they’re rare

Introduction Blue rubber bleb nevus syndrome (BRBNS) is a rare condition characterised by multiple cutaneous and internal venous malformation. Cutaneous lesions are often small, blue to purple in colour and have a predilection to the palms and soles of the feet. GI lesions are pathognomonic for the disease and most commonly seen in the small bowel. Haemorrhage from venous blebs in the GI tract can cause chronic iron deficiency and anaemia. Life-long iron supplementation and repeated iron and blood transfusions are required for affected individuals. Treatment options have included sclerotherapy, aggressive surgical removal of GI venous malformations, and more recently, medical treatment with sirolimus. Case report We present a case of a 9-year-old Irish male with chronic iron deficiency anaemia and multiple vascular lesions. The patient presented at one year old with a large vascular malformation, likely congenital hemangioma, overlying the occiput which increased in size over time. A trial of propranolol failed to reduce the size of the lesion and it was excised at 18 months old. However, a reoccurrence was noted 5 years after surgery. Other cutaneous stigmata include one vascular lesion on the sole of each foot. The patient presented again in early childhood with a chronic microcytic anaemia. His anaemia progressed over time, with recurrent drops of haemoglobin requiring frequent blood transfusions. He had a normal haptoglobin level and no evidence of hemosiderin in his urine, suggesting a cause other than haemolysis of the vascular lesion causing the anaemia. To investigate this unexplained iron deficiency anaemia, he had a colonoscopy at age 6 years. This showed two small haemangiomata in the rectum and descending colon and no evidence of inflammation. Repeat upper and lower endoscopy three years later was normal, with no vascular lesions seen. The patient subsequently had a capsule endoscopy which demonstrated multiple small bowel angiomata and venous blebs. The pathognomonic cutaneous and small bowel vascular malformations, combined with a recurrent, severe iron deficiency anaemia dependent on blood transfusions are consistent with a diagnosis of BRBNS for this patient. He has recently started on sirolimus, a mTOR inhibitor which has been used for treatment of vascular anomalies in children including BRBNS. Initial response to the treatment looks promising with improvement in haemoglobin one month after starting treatment. Conclusion We present a rare case of blue rubber bleb nevus syndrome in a 9-year-old boy with multiple venous blebs causing severe, chronic anaemia.