- Email: [email protected]
An Unusual Case of Iron Deficiency and Cardiac Murmur
ELECTRONIC CLINICAL CHALLENGES AND IMAGES IN GI 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58
Bilal Hameed, Uma Mahadevan, and Kay Washington, Section Editors
An Unusual Case of Iron Deficiency and Cardiac Murmur Q2
Benham Saberi,1 Sunhee Park,2 and James Buxbaum3 1 Division of Gastroenterology, Johns Hopkins University, Baltimore, Maryland; 2Division of Gastroenterology, Yale University, New Haven, Connecticut; 3Division of Gastroenterology, University of Southern California Schools of Medicine, Los Angeles, California
Question: A 22-year-old man presented with 1-week history of left-sided chest pain radiating to the back and fatigue. Past medical history was significant for truncus arteriosus with late valvular repair complicated by secondary pulmonary hypertension. Additionally, he had a history of multiple admissions for iron deficiency anemia requiring multiple blood transfusions over the past 16 years in Guatemala. On examination, he was noted to have multiple oral lesions measuring 2–3 cm in size, and bluish skin lesions on his forehead, chest, and feet (Figure A, B). The skin lesions were 2–7 cm in diameter, nodular, and compressible. He had a loud systolic ejection murmur heard best at the left sternal border. His initial hemoglobin level was decreased at 7.1 g/dL (normal range, 13.8-16.9) as was his mean corpuscular volume of 57.2 fL (normal range, 82.0–99.0). His iron and ferritin levels were low at 22 mg/dL and 3 mg/dL, respectively. Peripheral blood smear showed hypochromasia, microcytosis, anisocytosis, fragmented red cells, and giant platelets. An upper endoscopy and colonoscopy were performed and revealed multiple purple lesions (Figure C). Biopsies were obtained for histologic confirmation (Figure D). What is the diagnosis? See the Gastroenterology web site (www.gastrojournal.org) for more information on submitting your favorite image to Clinical Challenges and Images in GI.
Q1
Conflicts of interest The authors disclose no conflicts. © 2017 by the AGA Institute 0016-5085/$36.00 http://dx.doi.org/10.1053/j.gastro.2016.09.058
Gastroenterology 2017;-:e1–e2 DIS 5.4.0 DTD YGAST60753 proof 4 May 2017 8:02 am ce
59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 97 98 99 100 101 102 103 104 105 106 107 108 109 110 111 112 113 114 115 116
ELECTRONIC CLINICAL CHALLENGES AND IMAGES IN GI 117 118 119 120 121 122 123 124 125 126 127 128 129 130 131 132 133 134 135 136 137 138 139 140 141 142 143 144 145 146 147 148 149 150 151 152 153 154 155 156 157 158 159 160 161 162 163 164 165 166 167 168 169 170 171 172 173 174
Answer to: Image 1: Blue Rubber Bleb Nevus Syndrome Microscopy revealed colonic mucosa and submucosa with blood-filled, cystically dilated, thin-walled vascular channels with fibrin deposition and calcification. Histologic confirmation of hemangioma paired with the clinical examination findings and history are consistent with the blue rubber bleb nevus syndrome. Blue rubber bleb nevus syndrome, first described in 1860 by Gascoyen, also called Bean syndrome after further description by William Bean in 1958. It is a rare condition characterized by vascular malformations in the skin and gastrointestinal tract. Both congenital and sporadic cases have been described, and diagnosis is usually made after patients present with iron-deficiency anemia.1 Symptoms can manifest at childhood and continue throughout life, affecting males and females.1,2 Endoscopic evaluation supports the diagnosis, although confirmation is ultimately histologic and shows vascular malformations or hemangiomas that consist of multiple vascular channels lined with a single layer endothelium with surrounding thin connective tissue. Dystrophic calcification might be present. These vascular lesions can be found anywhere in the gastrointestinal tract from the mouth to the anus, but are predominantly found in the small bowel, followed by the colon.2 Other affected tissues and organs include muscle, joint, parotid gland, lung, liver, gallbladder, pancreas, spleen, central nervous system, and heart.3 Cardiac anomalies, most frequently pulmonary hypertension and ventricular hypertrophy, have been associated with blue rubber bleb nevus syndrome. Gastrointestinal involvement can lead to chronic blood loss and iron deficiency anemia, bleeding, intussusception, volvulus, bowel infarction, and/or rectal prolapse. Management depends on the number, location, size of the vascular lesions and the symptoms. When the gastrointestinal blood loss is mild, conservative management with iron supplementation and blood transfusion is recommended. In case of persistent bleeding endoscopic treatments such as argon plasma coagulation, laser photocoagulation, sclerotherapy, and band ligation have been used for the management of these patients. When endoscopic therapies fail and the lesions are confined to a segment of gastrointestinal tract operative resection may be indicated. This patient was managed conservatively with blood transfusion and oral iron supplementation, and was discharged in stable condition.
References 1. 2. 3.
Boente MD, Cordisco MR, Frontini MD, et al. Blue rubber bleb nevus (Bean syndrome): evolution of four cases and clinical response to pharmacologic agents. Pediatr Dermatol 1999;16:222–227. Dobru D, Seuchea N, Dorin M, et al. Blue rubber bleb nevus syndrome: case report and literature review. Rom J Gastroenterol 2004;13:237–240. Carvalho S, Barbosa V, Santos N, et al. Blue rubber-bleb nevus syndrome: report of a familial case with a dural arteriovenous fistula. AJNR Am J Neuroradiol 2003;24:1916–1918.
e2 DIS 5.4.0 DTD YGAST60753 proof 4 May 2017 8:02 am ce
175 176 177 178 179 180 181 182 183 184 185 186 187 188 189 190 191 192 193 194 195 196 197 198 199 200 201 202 203 204 205 206 207 208 209 210 211 212 213 214 215 216 217 218 219 220 221 222 223 224 225 226 227 228 229 230 231 232
Bilal Hameed, Uma Mahadevan, and Kay Washington, Section Editors
An Unusual Case of Iron Deficiency and Cardiac Murmur Q2
Benham Saberi,1 Sunhee Park,2 and James Buxbaum3 1 Division of Gastroenterology, Johns Hopkins University, Baltimore, Maryland; 2Division of Gastroenterology, Yale University, New Haven, Connecticut; 3Division of Gastroenterology, University of Southern California Schools of Medicine, Los Angeles, California
Question: A 22-year-old man presented with 1-week history of left-sided chest pain radiating to the back and fatigue. Past medical history was significant for truncus arteriosus with late valvular repair complicated by secondary pulmonary hypertension. Additionally, he had a history of multiple admissions for iron deficiency anemia requiring multiple blood transfusions over the past 16 years in Guatemala. On examination, he was noted to have multiple oral lesions measuring 2–3 cm in size, and bluish skin lesions on his forehead, chest, and feet (Figure A, B). The skin lesions were 2–7 cm in diameter, nodular, and compressible. He had a loud systolic ejection murmur heard best at the left sternal border. His initial hemoglobin level was decreased at 7.1 g/dL (normal range, 13.8-16.9) as was his mean corpuscular volume of 57.2 fL (normal range, 82.0–99.0). His iron and ferritin levels were low at 22 mg/dL and 3 mg/dL, respectively. Peripheral blood smear showed hypochromasia, microcytosis, anisocytosis, fragmented red cells, and giant platelets. An upper endoscopy and colonoscopy were performed and revealed multiple purple lesions (Figure C). Biopsies were obtained for histologic confirmation (Figure D). What is the diagnosis? See the Gastroenterology web site (www.gastrojournal.org) for more information on submitting your favorite image to Clinical Challenges and Images in GI.
Q1
Conflicts of interest The authors disclose no conflicts. © 2017 by the AGA Institute 0016-5085/$36.00 http://dx.doi.org/10.1053/j.gastro.2016.09.058
Gastroenterology 2017;-:e1–e2 DIS 5.4.0 DTD YGAST60753 proof 4 May 2017 8:02 am ce
59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 97 98 99 100 101 102 103 104 105 106 107 108 109 110 111 112 113 114 115 116
ELECTRONIC CLINICAL CHALLENGES AND IMAGES IN GI 117 118 119 120 121 122 123 124 125 126 127 128 129 130 131 132 133 134 135 136 137 138 139 140 141 142 143 144 145 146 147 148 149 150 151 152 153 154 155 156 157 158 159 160 161 162 163 164 165 166 167 168 169 170 171 172 173 174
Answer to: Image 1: Blue Rubber Bleb Nevus Syndrome Microscopy revealed colonic mucosa and submucosa with blood-filled, cystically dilated, thin-walled vascular channels with fibrin deposition and calcification. Histologic confirmation of hemangioma paired with the clinical examination findings and history are consistent with the blue rubber bleb nevus syndrome. Blue rubber bleb nevus syndrome, first described in 1860 by Gascoyen, also called Bean syndrome after further description by William Bean in 1958. It is a rare condition characterized by vascular malformations in the skin and gastrointestinal tract. Both congenital and sporadic cases have been described, and diagnosis is usually made after patients present with iron-deficiency anemia.1 Symptoms can manifest at childhood and continue throughout life, affecting males and females.1,2 Endoscopic evaluation supports the diagnosis, although confirmation is ultimately histologic and shows vascular malformations or hemangiomas that consist of multiple vascular channels lined with a single layer endothelium with surrounding thin connective tissue. Dystrophic calcification might be present. These vascular lesions can be found anywhere in the gastrointestinal tract from the mouth to the anus, but are predominantly found in the small bowel, followed by the colon.2 Other affected tissues and organs include muscle, joint, parotid gland, lung, liver, gallbladder, pancreas, spleen, central nervous system, and heart.3 Cardiac anomalies, most frequently pulmonary hypertension and ventricular hypertrophy, have been associated with blue rubber bleb nevus syndrome. Gastrointestinal involvement can lead to chronic blood loss and iron deficiency anemia, bleeding, intussusception, volvulus, bowel infarction, and/or rectal prolapse. Management depends on the number, location, size of the vascular lesions and the symptoms. When the gastrointestinal blood loss is mild, conservative management with iron supplementation and blood transfusion is recommended. In case of persistent bleeding endoscopic treatments such as argon plasma coagulation, laser photocoagulation, sclerotherapy, and band ligation have been used for the management of these patients. When endoscopic therapies fail and the lesions are confined to a segment of gastrointestinal tract operative resection may be indicated. This patient was managed conservatively with blood transfusion and oral iron supplementation, and was discharged in stable condition.
References 1. 2. 3.
Boente MD, Cordisco MR, Frontini MD, et al. Blue rubber bleb nevus (Bean syndrome): evolution of four cases and clinical response to pharmacologic agents. Pediatr Dermatol 1999;16:222–227. Dobru D, Seuchea N, Dorin M, et al. Blue rubber bleb nevus syndrome: case report and literature review. Rom J Gastroenterol 2004;13:237–240. Carvalho S, Barbosa V, Santos N, et al. Blue rubber-bleb nevus syndrome: report of a familial case with a dural arteriovenous fistula. AJNR Am J Neuroradiol 2003;24:1916–1918.
e2 DIS 5.4.0 DTD YGAST60753 proof 4 May 2017 8:02 am ce
175 176 177 178 179 180 181 182 183 184 185 186 187 188 189 190 191 192 193 194 195 196 197 198 199 200 201 202 203 204 205 206 207 208 209 210 211 212 213 214 215 216 217 218 219 220 221 222 223 224 225 226 227 228 229 230 231 232