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 Li^1#, Lele Zhang^1#, Liwei Fang^1*, 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