Clinical Study Of Patients With Blue Rubber Bleb Naevus Syndrome: A Report Of 23 Cases

Objective To improve the understanding of the natural history of blue rubber bleb naevus syndrome (BRBNS) by the analysis of pathogenesis, clinical features, diagnosis, management and prognosis of Chinese patients with BRBNS. Methods The detail of one case of BRBNS treated at the first affiliated hospital of Zhejiang University medical college was retrospectively analyzed and reviewed together with those of 22 cases previously reported from the literature. Results Among the 23 patients, 16 cases were male (70%), and 7 cases were female (30%). Mean age was 21 ±18 years old (range, 2 to 75 years old). Mean hemoglobin level was56±21g/L. In 1 case, his parents were relative and 1 case had a family history. Venous malformations of the skin were found on the limbs (22/23,96%) , trunk (22/23,96%) and face(6/23, 30%), in which 1 lesion extend into underlying joint, affecting his ambulation. The gastrointestinal system is involved in all patients with blue rubber bleb nevus syndrome., and lesions were found in oral cavity (2/23,9%) , esophagus (7/23,30 % ), stomach( 10/23, 43% ), small bowel(16/23, 69% ), colon(11/23, 48% ), rectum(4/23,17%), especially and ileum (13/23, 57%) . Other sites of involvement were found in 9 cases (39%) ,5 cases of which were liver, and only the case with nasal cavity vascular malformation express rhinorrhagia. 17(70%) cases had a chief complaint of melena or bloody stool, with a mean history of 5 years. 2 cases (9 % ) had a chief complaint of melena or bloody stool, with a mean history of 5 years. Alimentary tract hemorrhage was found in 21cases (91%) . BRBNS were diagnosed with barium studies (4/23, 17%) ,gastroscopy (4/23, 17%) ,coloscopy (10/23, 43%) , small intestinal endoscopy (2/23, 9%) , capsule endoscopy (2/23, 9%) ,and exploratory laparotomy (5/23, 22%) . In 2 cases, CT showed other sites of involvement, in 1 case rinoscopy showed nasal cavity vascular malformation, and 1 case with hepatic angioma was diagnosed with selective arteriography . 7 cases received operation, either of 2 case recurred during one month follow-up. 3 cases were treated successfully with therapeutic endoscopy: laser photocoagulation, endoscopic band ligation and resection respectively, but without evidence of durable success. 3 cases only received symptomatic treatment and 1 case only received the treatment for cutaneous lesions. Conclusions BRBNS is a rare disease. The pathogenesis of the disease is not clear yet. The clinical characteristics of Chinese patients with BRBNS include distinctive venous malformations in the skin, gastrointestinal tract, and less often in other organs, leading to occult or profound gastrointestinal bleeding and chronic anemia, like foreigners. In our country, diagnosis of BRBNS mainly depends on gastroscopy and coloscopy, small bowel endoscopy and capsule endoscopy need to be used more widely. Operation treatment is still the most common yet, and the prognosis in short term is not bad. Not surprisedly, pharmacologic therapy has not been applied. Meanwhile, We have challenge to developing therapeutic endoscopy.