Case presentation
A 25-year-old female with a complaint of discontinuous pallor and fatigue for 12 years was admitted to the hospital. She received intermittent blood transfusion due to refractory anemia. Melena, hematemesis, menorrhagia or any other blood-loss events were denied. She showed a height of 145 cm and a weight of 43 kg, mild pallor was noted and two small cutaneous bluish nodules were found in limbs. A series of laboratory findings demonstrated severe microcytic hypochromic anemia (hemoglobin 49 g/L, mean corpuscular volume 70.5 fL, mean corpuscular hemoglobin 18.5 pg, mean corpuscular hemoglobin concentration 263 g/L). Serum iron was 1.76 umol/L and total iron binding capacity was 94.25 umol/L. Both bone marrow smear and biopsy revealed reduction of iron staining and the chromosome karyotype was 46, XX. Fecal occult blood test (FOBT) were negative for three times. Neither liver nor renal dysfunction was found. Colonoscopy indicated a sessile polyp measuring approximately 1.8*1.8 cm located in ascending colon about 60 cm from the anus, which was rough and bluish (Fig. 1A). At a distance of 30 cm from the edge of the anus, the sigmoid colon was hyperemic and congested with mucosal erosions and ulcers (Fig. 1B), the rectum showed blue mucosa with multiple site erosions located at the 10 cm from the anus (Fig. 1C). Capsule endoscopy showed the small intestine mucosa was blue and the blood vessels were large and tortuous (Fig. 1D-1E). Hence, she was diagnosed as BRBNS.
To improve the level of anemia, we administered 4 units of packed red blood cells transfusion and intravenous infusion of 200 mg iron sucrose three times a week regularly. What is expected, we observed a significant increase of hemoglobin. The levels of hemoglobin rise from 56g/L to 89g/L in two weeks (Fig. 2A). To obtain long-term curation, she received a sigmoid-colectomy to remove the gastrointestinal lesions. Multiple purple lesions of sigmoid colon and rectum were showed by the using of laparoscope, and hemangioma was identified by histologic features. All the data were consistent with the diagnosis of BRBNs. The hemoglobin was maintained at the normal level after surgery (Fig. 2B).