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).