A delayed diagnosis of Blue rubber bleb nevus syndrome: characterized by
refractory iron deficient anemia
Running head: A case of Blue rubber bleb nevus syndrome
Type of manuscript: Case report
Qiaoli Li1#, Lele Zhang1#, Liwei
Fang1*, Hong Pan1, Qian
Liang1, Jingyu Zhao1, Jun
Shi1
1State Key Laboratory of Experimental Hematology,
National Clinical Research Center for Blood Diseases, Regenerative
Medicine Clinic, Institute of Hematology & Blood Diseases Hospital,
Chinese Academy of Medical Sciences & Peking Union Medical College,
Tianjin 300020, China
#These authors contributed equally
*Correspondence: Liwei Fang,fangliwei@ihcams.ac.cn
Abstract: Blue nevus syndrome (BRBNS) is a rare congenital
disease characterized by multifocal venous malformations with
involvement of skin and gastrointestinal (GI) tract. Here we represent a
case with delayed diagnosis of BRBNS after treatment of refractory iron
deficient anemia (IDA) for 12 years. The underlying disease was
confirmed by GI endoscopy and capsule endoscopy. To obtain long-term
curation, this patient received sigmoid-colectomy to remove the
gastrointestinal lesions, and the level of hemoglobin maintained normal
after surgery. In conclusion, BRBNS should be considered for patients
with refractory IDA, and appropriate intervention could improve the
level of hemoglobin and the quality of life.
Key words: Blue rubber bleb nevus syndrome; refractory iron
deficient anemia; sigmoid-colectomy