An atypical presentation of blue rubber bleb nevus syndrome Jessica Gonzalez-Hernandez, MD, and Luis Lizardo-Sanchez, MD
A 69-year-old white man presented with several episodes of hematochezia. Colonoscopy demonstrated multiple colonic blebs localized mainly in the distal transverse colon. Esophagogastroduodenoscopy, capsule endoscopy, and computed tomography of the abdomen did not reveal any abnormalities. The patient required several blood transfusions and eventually required a subtotal colectomy with ileosigmoid anastomosis for definitive bleeding control. Pathology was remarkable for multifocal vascular ectasia, consistent with the diagnosis of blue rubber bleb nevus syndrome.
B
lue rubber bleb nevus syndrome is a rare disorder characterized by cutaneous and gastrointestinal vascular malformations that was originally described in 1860 and 1958 by Gascoyen (1) and Bean (2), respectively. Clinically, most patients present with symptoms related to iron-deficiency anemia. Rarely, patients can experience overt gastrointestinal bleeding resulting in significant transfusion requirements (3). The incidence of blue rubber bleb nevus syndrome is very low, with approximately 200 cases reported in the literature, mostly described in children and young adults (4). CASE REPORT A 69-year-old white man presented after multiple episodes of bright red blood per rectum that required several blood transfusions. He denied a previous history of skin lesions or a family history of similar symptoms. He had no skin lesions. Esophagogastroduodenoscopy was normal. Colonoscopy showed diffuse colonic blebs mostly localized to the distal transverse colon (Figure 1). A computed tomography scan, small bowel series, and video-capsule small bowel study were normal. The patient continued to have intermittent bleeding associated with a decreasing hemoglobin level. A subtotal colectomy with ileosigmoid anastomosis was performed (Figure 2). Histological sections showed multifocal thin-walled vascular ectasia with associated mucosal erosion/ulcerations and hemorrhage predominantly involving the mucosa and submucosa of the entire colon (Figure 3). The histologic, immunohistochemical, and special stain findings were compatible with the venous malformations seen in blue rubber bleb nevus syndrome. The patient recovered well and was discharged home Proc (Bayl Univ Med Cent) 2016;29(3):323–324
on postoperative day 7. At 1-year follow-up, he reported no additional episodes of bleeding. DISCUSSION This case illustrates an atypical presentation of lower gastrointestinal bleeding from localized blue rubber bleb nevus syndrome, a rare vascular anomaly of unknown etiology characterized by multifocal venous malformations of the skin, soft tissues, and gastrointestinal tract. This syndrome most commonly occurs sporadically but can be associated with an autosomal dominant inheritance (5). The skin lesions usually present at birth and the gastrointestinal lesions present at a later age but continue throughout life. The lesions can occur anywhere in the gastrointestinal tract and cause severe bleeding that can lead to death. Management of this condition is directed towards control of bleeding, repletion of iron stores, and blood transfusions when there is significant bleeding. It is important to evaluate the entire gastrointestinal tract via esophagogastroduodenoscopy and a video-capsule small bowel study to look for synchronous lesions. Several antiangiogenic agents, including octreotide, interferon alpha, and corticosteroids, have been studied to reduce the frequency and severity of bleeding episodes. These small studies lack long-term prospective data and suggest that lesions recur after discontinuation of therapy (6, 7). Low-dose sirolimus (8) was reported to be effective in one pediatric patient with recurrent gastrointestinal bleeding episodes despite conservative management. Endoscopic approaches for control of bleeding include laser photocoagulation, sclerosis, band ligation, and polypectomy (9, 10). Lastly, surgery has been advocated as definitive treatment for gastrointestinal bleeding that does not respond to the aforementioned strategies. The largest prospective series comes from the pediatric surgery literature, which reports effective use of a wedge resection, polypectomy, From the Department of Surgery (Gonzalez-Hernandez) and the Division of Gastroenterology, Department of Internal Medicine (Lizardo-Sanchez), Baylor University Medical Center at Dallas. Corresponding author: Jessica Gonzalez-Hernandez, MD, Department of Surgery, Baylor University Medical Center at Dallas, 3500 Gaston Avenue, 1st Floor Roberts, Dallas, TX 75246 (e-mail: jessica.gonzalez-hernandez@ baylorhealth.edu) 323
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Figure 1. Colonoscopy showing multiple colonic blebs in the transverse colon.
suture ligation, segmental bowel resection, and band ligation with effective control of bleeding. Ten patients were followed for a mean of 5 years, with only one of the patients experiencing recurrent gastrointestinal bleeding (11). 1.
Figure 2. Surgical specimen of the colon with multiple blue to black rubbery blood-filled sacs.
Figure 3. Multifocal vascular ectasia with hemorrhage involving mucosa and submucosa.
324
Gascoyen GG. Case of nevus involving the parotid gland and causing death from suffocation: nevi of the viscera. Trans Pathol Soc Lond 1860;11:267–270. 2. Kaur T, Singh S. Blue rubber bleb nevus syndrome: a case report. Indian J Dermatol 2014;59(1):98–99. 3. Oksüzoğlu BC, Oksüzoğlu G, Cakir U, Bayir T, Esen M. Blue rubber bleb nevus syndrome. Am J Gastroenterol 1996;91(4):780–782. 4. Moodley M, Ramdial P. Blue rubber bleb nevus syndrome: case report and review of the literature. Pediatrics 1993;92(1):160–162. 5. Zahedi MJ, Darvish Moghadam S, Seyed Mirzaei SM, Dehghani M, Shafiei Pour S, Rasti A. Blue rubber bleb nevus syndrome as a rare cause of iron deficiency anemia: a case report and review of literature. Middle East J Dig Dis 2013;5(4):235–239. 6. Hansen LF, Wewer V, Pedersen SA, Matzen P, Paerregaard A. Severe blue rubber bleb nevus syndrome in a neonate. Eur J Pediatr Surg 2009;19(1):47–49. 7. Gonzalez D, Elizondo BJ, Haslag S, Buchanan G, Burdick JS, Guzzetta PC, Hicks BA, Andersen JM. Chronic subcutaneous octreotide decreases gastrointestinal blood loss in blue rubber-bleb nevus syndrome. J Pediatr Gastroenterol Nutr 2001;33(2):183–188. 8. Yuksekkaya H, Ozbek O, Keser M, Toy H. Blue rubber bleb nevus syndrome: successful treatment with sirolimus. Pediatrics 2012;129(4):e1080– e1084. 9. Bak YT, Oh CH, Kim JH, Lee CH. Blue rubber bleb nevus syndrome: endoscopic removal of the gastrointestinal hemangiomas. Gastrointest Endosc 1997;45(1):90–92. 10. Sala Felis T, Urquijo Ponce JJ, López Viedma B, Pertejo Pastor V, Berenguer Lapuerta J. Blue nevus syndrome: endoscopic treatment by sclerosis and banding ligation. Gastroenterol Hepatol 1999;22(3):136–138. 11. Fishman SJ, Smithers CJ, Folkman J, Lund DP, Burrows PE, Mulliken JB, Fox VL. Blue rubber bleb nevus syndrome: surgical eradication of gastrointestinal bleeding. Ann Surg 2005;241(3):523–528.
Baylor University Medical Center Proceedings
Volume 29, Number 3
A 69-year-old white man presented with several episodes of hematochezia. Colonoscopy demonstrated multiple colonic blebs localized mainly in the distal transverse colon. Esophagogastroduodenoscopy, capsule endoscopy, and computed tomography of the abdomen did not reveal any abnormalities. The patient required several blood transfusions and eventually required a subtotal colectomy with ileosigmoid anastomosis for definitive bleeding control. Pathology was remarkable for multifocal vascular ectasia, consistent with the diagnosis of blue rubber bleb nevus syndrome.
B
lue rubber bleb nevus syndrome is a rare disorder characterized by cutaneous and gastrointestinal vascular malformations that was originally described in 1860 and 1958 by Gascoyen (1) and Bean (2), respectively. Clinically, most patients present with symptoms related to iron-deficiency anemia. Rarely, patients can experience overt gastrointestinal bleeding resulting in significant transfusion requirements (3). The incidence of blue rubber bleb nevus syndrome is very low, with approximately 200 cases reported in the literature, mostly described in children and young adults (4). CASE REPORT A 69-year-old white man presented after multiple episodes of bright red blood per rectum that required several blood transfusions. He denied a previous history of skin lesions or a family history of similar symptoms. He had no skin lesions. Esophagogastroduodenoscopy was normal. Colonoscopy showed diffuse colonic blebs mostly localized to the distal transverse colon (Figure 1). A computed tomography scan, small bowel series, and video-capsule small bowel study were normal. The patient continued to have intermittent bleeding associated with a decreasing hemoglobin level. A subtotal colectomy with ileosigmoid anastomosis was performed (Figure 2). Histological sections showed multifocal thin-walled vascular ectasia with associated mucosal erosion/ulcerations and hemorrhage predominantly involving the mucosa and submucosa of the entire colon (Figure 3). The histologic, immunohistochemical, and special stain findings were compatible with the venous malformations seen in blue rubber bleb nevus syndrome. The patient recovered well and was discharged home Proc (Bayl Univ Med Cent) 2016;29(3):323–324
on postoperative day 7. At 1-year follow-up, he reported no additional episodes of bleeding. DISCUSSION This case illustrates an atypical presentation of lower gastrointestinal bleeding from localized blue rubber bleb nevus syndrome, a rare vascular anomaly of unknown etiology characterized by multifocal venous malformations of the skin, soft tissues, and gastrointestinal tract. This syndrome most commonly occurs sporadically but can be associated with an autosomal dominant inheritance (5). The skin lesions usually present at birth and the gastrointestinal lesions present at a later age but continue throughout life. The lesions can occur anywhere in the gastrointestinal tract and cause severe bleeding that can lead to death. Management of this condition is directed towards control of bleeding, repletion of iron stores, and blood transfusions when there is significant bleeding. It is important to evaluate the entire gastrointestinal tract via esophagogastroduodenoscopy and a video-capsule small bowel study to look for synchronous lesions. Several antiangiogenic agents, including octreotide, interferon alpha, and corticosteroids, have been studied to reduce the frequency and severity of bleeding episodes. These small studies lack long-term prospective data and suggest that lesions recur after discontinuation of therapy (6, 7). Low-dose sirolimus (8) was reported to be effective in one pediatric patient with recurrent gastrointestinal bleeding episodes despite conservative management. Endoscopic approaches for control of bleeding include laser photocoagulation, sclerosis, band ligation, and polypectomy (9, 10). Lastly, surgery has been advocated as definitive treatment for gastrointestinal bleeding that does not respond to the aforementioned strategies. The largest prospective series comes from the pediatric surgery literature, which reports effective use of a wedge resection, polypectomy, From the Department of Surgery (Gonzalez-Hernandez) and the Division of Gastroenterology, Department of Internal Medicine (Lizardo-Sanchez), Baylor University Medical Center at Dallas. Corresponding author: Jessica Gonzalez-Hernandez, MD, Department of Surgery, Baylor University Medical Center at Dallas, 3500 Gaston Avenue, 1st Floor Roberts, Dallas, TX 75246 (e-mail: jessica.gonzalez-hernandez@ baylorhealth.edu) 323
˜
Figure 1. Colonoscopy showing multiple colonic blebs in the transverse colon.
suture ligation, segmental bowel resection, and band ligation with effective control of bleeding. Ten patients were followed for a mean of 5 years, with only one of the patients experiencing recurrent gastrointestinal bleeding (11). 1.
Figure 2. Surgical specimen of the colon with multiple blue to black rubbery blood-filled sacs.
Figure 3. Multifocal vascular ectasia with hemorrhage involving mucosa and submucosa.
324
Gascoyen GG. Case of nevus involving the parotid gland and causing death from suffocation: nevi of the viscera. Trans Pathol Soc Lond 1860;11:267–270. 2. Kaur T, Singh S. Blue rubber bleb nevus syndrome: a case report. Indian J Dermatol 2014;59(1):98–99. 3. Oksüzoğlu BC, Oksüzoğlu G, Cakir U, Bayir T, Esen M. Blue rubber bleb nevus syndrome. Am J Gastroenterol 1996;91(4):780–782. 4. Moodley M, Ramdial P. Blue rubber bleb nevus syndrome: case report and review of the literature. Pediatrics 1993;92(1):160–162. 5. Zahedi MJ, Darvish Moghadam S, Seyed Mirzaei SM, Dehghani M, Shafiei Pour S, Rasti A. Blue rubber bleb nevus syndrome as a rare cause of iron deficiency anemia: a case report and review of literature. Middle East J Dig Dis 2013;5(4):235–239. 6. Hansen LF, Wewer V, Pedersen SA, Matzen P, Paerregaard A. Severe blue rubber bleb nevus syndrome in a neonate. Eur J Pediatr Surg 2009;19(1):47–49. 7. Gonzalez D, Elizondo BJ, Haslag S, Buchanan G, Burdick JS, Guzzetta PC, Hicks BA, Andersen JM. Chronic subcutaneous octreotide decreases gastrointestinal blood loss in blue rubber-bleb nevus syndrome. J Pediatr Gastroenterol Nutr 2001;33(2):183–188. 8. Yuksekkaya H, Ozbek O, Keser M, Toy H. Blue rubber bleb nevus syndrome: successful treatment with sirolimus. Pediatrics 2012;129(4):e1080– e1084. 9. Bak YT, Oh CH, Kim JH, Lee CH. Blue rubber bleb nevus syndrome: endoscopic removal of the gastrointestinal hemangiomas. Gastrointest Endosc 1997;45(1):90–92. 10. Sala Felis T, Urquijo Ponce JJ, López Viedma B, Pertejo Pastor V, Berenguer Lapuerta J. Blue nevus syndrome: endoscopic treatment by sclerosis and banding ligation. Gastroenterol Hepatol 1999;22(3):136–138. 11. Fishman SJ, Smithers CJ, Folkman J, Lund DP, Burrows PE, Mulliken JB, Fox VL. Blue rubber bleb nevus syndrome: surgical eradication of gastrointestinal bleeding. Ann Surg 2005;241(3):523–528.
Baylor University Medical Center Proceedings
Volume 29, Number 3
