Abstract 640

Background: The medical literature pertaining to Blue Rubber Bleb Nevus Syndrome(BRBNS) is mainly composed of case reports. The literature describes the inheritance as autosomal dominant, "familial tendency", and sporadic. It classifies the lesions as cavernous hemangiomas. Hemangiomas differ significantly from venous malformations(VM) in their natural history, cellular kinetics, and treatment approaches.

Methods: We defined BRBNS as a disorder of cutaneous and gastrointestinal VMs causing GI bleeding. A world wide website was established to determine the epidemiology, natural history, and clinical aspects of BRBNS.

Results: 35 individuals with the diagnosis of BRBNS responded to the website. Only 20 fulfilled the definition of BRBNS. The ages ranged from 5 months to 45 years. 80% responded as white or Caucasian. 70% were female. Skin VMs were noted at an age less than 2. VMs grew in size and number commensurate with individual's growth and did not regress. 75% had VMs involving the chest, arms, and legs. 85% had greater than 10 skin VMs. 95% had GI bleeding noted before the age of 21. 40% had esophageal VMs and 60% had gastric VMs. In 6 of 20 individuals evaluated by small bowel enteroscopy or laparotomy, numbers of GI tract VMs, ranged from 11 to >100 and all had VMs in their jejunum/ileum. 90% had colonic VMs. 90% have had hemoglobins less than 10g/dl and 50% had hemoglobins less than 5g/dl at one point. 65% percent had a blood transfusion for anemia and 30% had greater than 5 transfusions. None had family members with documented GI tract VMs and only 1 had a family member with cutaneous VMs.

Conclusions: A clinical portrait of this rare disorder is presented based on data from 20 individuals with BRBNS. The results do not support an autosomal dominant or "familial tendency" inheritance pattern nor the classification of these lesions as hemangiomas.