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 Table of Contents  
CASE REPORT
Year : 2019  |  Volume : 6  |  Issue : 1  |  Page : 67-69

Rare cause of recurrent iron deficiency anemia


1 Department of Gastroenterology, IGMC, Shimla, Himachal Pradesh, India
2 Department of Microbiology, IGMC, Shimla, Himachal Pradesh, India
3 Department of Medicine, IGMC, Shimla, Himachal Pradesh, India

Date of Submission02-May-2018
Date of Decision11-Jun-2018
Date of Acceptance24-Jun-2018
Date of Web Publication14-Feb-2019

Correspondence Address:
Rajesh Sharma
Department of Gastroenterology, IGMC, Shimla, Himachal Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/cjhr.cjhr_57_18

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  Abstract 


Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder, characterized by multifocal venous malformations predominantly affecting skin, soft tissues, and gastrointestinal (GI) tract. Its presentation is usually sporadic although cases of autosomal dominant inheritance have been reported. Usually seen in children, BRBNS presentation in adults is rare. Most common symptoms of GI tract involvement are iron deficiency anemia and bleeding. We present a case of 16-year-old boy, who presented with recurrent anemia requiring multiple blood transfusions.

Keywords: Blue rubber bleb nevus syndrome, esophagogastroduodenoscopy, gastrointestinal, ultrasonography


How to cite this article:
Sharma R, Bodh V, Sharma B, Sharma V, Mahajan S. Rare cause of recurrent iron deficiency anemia. CHRISMED J Health Res 2019;6:67-9

How to cite this URL:
Sharma R, Bodh V, Sharma B, Sharma V, Mahajan S. Rare cause of recurrent iron deficiency anemia. CHRISMED J Health Res [serial online] 2019 [cited 2019 May 22];6:67-9. Available from: http://www.cjhr.org/text.asp?2019/6/1/67/252292




  Introduction Top


Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder, first reported by William Bean in 1958.[1] The syndrome is characterized by vascular malformations of the skin, soft-tissue, gastrointestinal (GI) system, and less often, other organ systems. The clinical manifestations depend on the organ involvement, and the condition is often diagnosed based on the presence of characteristic cutaneous lesions with or without GI bleeding and/or the involvement of other organs. We present a case of 16-year-old boy, who presented with recurrent anemia requiring multiple blood transfusions.


  Case Report Top


A 16-year-old boy presented to our outpatient department with symptoms of tiredness and easy fatigability for 3 years. He gave a history of being evaluated for similar complaints in the past in an outside medical facility. He was diagnosed to have iron deficiency anemia and had received multiple blood transfusions. The patient had no significant medical history apart from intermittent abdominal pain and blackish color stool for 3 years. He denied having hematochezia, bleeding gums, or recurrent epistaxis, hemoptysis, hematemesis, and dyspnea. He appeared pale at presentation, but was hemodynamically stable, with a hemoglobin level of 6.7 g/dL. On physical examination, he had multiple subcutaneous nodules with bluish hue (size 0.5–2.5 cm) over arms, nails, trunk, and buttocks [Figure 1]a, which were soft, easily compressible, and promptly refilled after compression. The size of the lesions varied from 0.5 to 3.0 cm. On further interrogation, he gave a history of the presence of these subcutaneous nodules since childhood. These had increased in size and in number over time. He had no discomfort and had never attended hospital for these nodules.
Figure 1: (a) Venous vascular malformation is present over left buttock

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Investigations revealed microcytic hypochromic anemia with normal platelet and leukocyte count. His random blood sugar, renal, and liver biochemistry were normal. His iron profile was suggestive of iron deficiency anemia with raised total iron binding capacity. His esophagogastroduodenoscopy (EGD) revealed purpulish-blue multiple vascular venous malformations in right arytenoid, stomach, and duodenum [Figure 2]a,[Figure 2]b,[Figure 2]c without any evidence of bleed. Colonoscopy revealed similar multiple venous vascular malformations in colon [Figure 3]a. On the basis of the above findings, the diagnosis of BRBNS was made and to rule out involvement of other organ system magnetic resonance imaging of the brain and spinal cord and ultrasonogram abdomen were done, which were normal. As the patient had no active bleed, he was given iron supplementation. Two weeks later, a routine blood test showed that the hemoglobin was 7.7 g/dl. He was discharged and asked to follow-up monthly in outpatient department.
Figure 2: (a) Left arytenoids cartilage shows venous vascular malformation (arrow) (b) Venous vascular malformation (arrows) in stomach on retroflexion (c) Venous vascular malformation

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Figure 3: (a) Venous vascular malformation present in Transverse Colon

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  Discussion Top


BRBNS was reported by William Bean in 1958;[1] hence, also known as Bean Syndrome. Only 200 case reports have been published in literature. Most of the cases of BRBNS have been reported in Caucasians, and in African American, it is even rarer. Jin et al.[2] after reviewing the literature found that cutaneous angiomas were seen in 93%, followed by GI hemangiomas in 76% (our case had cutaneous and GI hemangioma). Other organs, such as the central nervous system (13%), liver (11%), and muscles (9%) were also involved. Multiple organs can be involved in a single patient.

Among the cases reported in the literature, the female-to-male ratio was approximately 1:1, indicating that there is no gender difference in BRBNS.[3] The lesions are often present from birth or early childhood[4] though it can also appear in adults or elderly. The size and number of lesion grows with time.

The pathogenesis BRBNS is uncertain although autosomal inheritance has been identified in several familial cases associated with chromosome 9p; the majority of cases are sporadic.[3],[5] Mogler C found that c-kit was detectable predominantly in smaller vessels within their patient's tissues, suggesting that the stem cell factor/c-kit signaling axis may be involved in the constant growth of venous malformations.[6]

The clinical manifestations depend on the organ involvement. The cutaneous lesions are characterized as rubbery, soft, tender and hemorrhagic, easily compressible, and promptly refill after compression. The other two types of lesions are large disfiguring cavernous lesions and blue-black irregular macules or papules.[1] The cutaneous lesions are usually asymptomatic, but some complaint of pain or sweating. Pain may be caused by contraction of smooth muscle fibers surrounding the angioma and sweating possibly due to the proximity of the nevi to sweat glands.[7] GI hemangiomas may appear in any position from the mouth to the anus.[8] The most common symptoms in the GI tract are bleeding and secondary iron deficiency anemia[9] and may also present with severe complications such as rupture, intestinal torsion, and intussusception. Hemangiomas in the brain or spinal cord can lead to cerebral infarction and spinal cord compression, respectively.

BRBNS is often diagnosed based on the presence of characteristic cutaneous lesions with or without GI bleeding and/or the involvement of other organs.[10] Biopsy is not required routinely for diagnosis. Apart from a physical examination and endoscopy, ultrasonography (USG), radiographic images, computed tomography, and magnetic resonance imaging are also useful for the detection of affected visceral organs.[10] Histological examination revealed cavernous venous dilatations, with a thin wall of smooth muscle cells lined by a simple layer of endothelial cells.[11]

The cutaneous lesions are usually asymptomatic and do not require treatment. When lesions occur in higher risk areas of trauma or in joints, treatment may be required, including surgery, sclerotherapy or laser photocoagulation.

The treatment of GI BRBNS is determined by the extent of intestinal involvement and severity of the disease.

If bleeding is minor or intermittent, conservative treatment, such as blood transfusions and iron supplementation, is recommended due to high recurrence of the disease (our patient presented with anemia without any significant bleed or complication on upper and lower GI endoscopy, so managed conservatively and kept on follow-up).

For more significant hemorrhages or other complications, such as rupture, intestinal torsion, and intussusceptions, surgical resection, endoscopic sclerosis, and laser photocoagulation, have been proposed.[5],[7],[12] GI lesions should be identified and must be localized before surgical resection.[3]

Yuksekkaya et al.[13] first reported the use of low-dose sirolimus (an antiangiogenic agent) in an 8-year-old girl with BRBNS characterized by recurrent severe GI bleeding. After sirolimus, vascular lesions reduced in number and GI bleeding and muscle hematomas disappeared.

The prognosis of BRBNS depends on organs involved and the extent of involvement. Most patients can live a long life with the disease; however, the quality of life is limited due to GI bleeding, oral drug therapy, and blood transfusions.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Bean WB, editor. Blue rubber bleb nevi of the skin and gastrointestinal tract. In: Vascular Spiders and Related Lesions of the Skin. Springfield, IL, United States: Charles C Thomas; 1958. p. 178-85.  Back to cited text no. 1
    
2.
Jin XL, Wang ZH, Xiao XB, Huang LS, Zhao XY. Blue rubber bleb nevus syndrome: A case report and literature review. World J Gastroenterol 2014;20:17254-9.  Back to cited text no. 2
    
3.
Choi KK, Kim JY, Kim MJ, Park H, Choi DW, Choi SH, et al. Radical resection of intestinal blue rubber bleb nevus syndrome. J Korean Surg Soc 2012;83:316-20.  Back to cited text no. 3
    
4.
Krishnappa A, Padmini J. Blue rubber bleb nevus syndrome. Indian J Pathol Microbiol 2010;53:168-70.  Back to cited text no. 4
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5.
Rodrigues D, Bourroul ML, Ferrer AP, Monteiro Neto H, Gonçalves ME, Cardoso SR, et al. Blue rubber bleb nevus syndrome. Rev Hosp Clin Fac Med Sao Paulo 2000;55:29-34.  Back to cited text no. 5
    
6.
Mogler C, Beck C, Kulozik A, Penzel R, Schirmacher P, Breuhahn K, et al. Elevated expression of c-kit in small venous malformations of blue rubber bleb nevus syndrome. Rare Tumors 2010;2:e36.  Back to cited text no. 6
    
7.
Gallo SH, McClave SA. Blue rubber bleb nevus syndrome: Gastrointestinal involvement and its endoscopic presentation. Gastrointest Endosc 1992;38:72-6.  Back to cited text no. 7
    
8.
Dwivedi M, Misra SP. Blue rubber bleb nevus syndrome causing upper GI hemorrhage: A novel management approach and review. Gastrointest Endosc 2002;55:943-6.  Back to cited text no. 8
    
9.
Jain A, Kar P, Chander R, Khandpur S, Jain S, Prabhash K, et al. Blue rubber bleb nevus syndrome: A cause of gastrointestinal hemorrhage. Indian J Gastroenterol 1998;17:153-4.  Back to cited text no. 9
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10.
Agnese M, Cipolletta L, Bianco MA, Quitadamo P, Miele E, Staiano A, et al. Blue rubber bleb nevus syndrome. Acta Paediatr 2010;99:632-5.  Back to cited text no. 10
    
11.
Hasosah MY, Abdul-Wahab AA, Bin-Yahab SA, Al-Rabeaah AA, Rimawi MM, Eyoni YA, et al. Blue rubber bleb nevus syndrome: Extensive small bowel vascular lesions responsible for gastrointestinal bleeding. J Paediatr Child Health 2010;46:63-5.  Back to cited text no. 11
    
12.
Dieckmann K, Maurage C, Faure N, Margulies A, Lorette G, Rudler J, et al. Combined laser-steroid therapy in blue rubber bleb nevus syndrome: Case report and review of the literature. Eur J Pediatr Surg 1994;4:372-4.  Back to cited text no. 12
    
13.
Yuksekkaya H, Ozbek O, Keser M, Toy H. Blue rubber bleb nevus syndrome: Successful treatment with sirolimus. Pediatrics 2012;129:e1080-4.  Back to cited text no. 13
    


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  [Figure 1], [Figure 2], [Figure 3]



 

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