Gastrointestinal
Gastrointest Radiol 2, 149- 152 (1977)
Radiology 9 by Springer-Verlag 1977
Hepatic Angiography in Hereditary Hemorrhagic Telangiectasia Paul Jaques and David Delany Department of Radiology, School of Medicine, University of North Carolina, Chapel Hill, North Carolina, USA
Abstract. Three patients presenting with gastrointestinal bleeding and characteristic radiologic findings of hereditary hemorrhagic telangiectasia are described. Emphasis is placed not only on the angiodysplasia evident from abdominal angiography, but also on the demonstration by the chest radiograph of a chronic mild hyperdynamic state. Key words: Gastrointestinal bleeding - Liver - Telangiectasia - A n g i o g r a p h y - Pulmonary plethora.
Investigations, including a full blood count, serum electrolytes, and liver function tests, were within normal limits. A recent upper GI examination was entirely normal. A chest X-ray demonstrated mild cardiomegaly and generalized pulmonary vascular prominence (Fig. 1). Celiac and superior mesenteric angiography were performed, demonstrating diffuse arteriovenous shunting throughout the liver (Fig. 2A and B). Subsequently endoscopy revealed gastric mucosal telangiectasia, though biopsy was reported as normal. The patient was discharged for close outpatient followup.
Case N F
Angiography is accepted as part of the investigation of patients with gastrointestinal (GI) bleeding of varying severity. Hereditary hemorrhagic telangiectasia (HHT) is a relatively rare condition but our recent experience in finding three cases with such similar and pathognomonic radiologic findings indicated a need for review. These three patients represent 0.5% of 610 patients studied angiographically for GI bleeding at neighboring institutions during the last eight years. In only one case was the diagnosis suggested before angiography from observation of glossal telangiectasia.
A 49-year-old black female (the mother of Case CH) was admitted in 1969 and 1971 for investigation of symptoms of nervousness and fatigue. On each occasion, among other medical problems,
Case Reports Case CH
A 41-year-old black female was referred (June 1976) for investigation of recurrent gastointestinal (GI) hemorrhage over the previous nine months requiring a total of 13 units of whole blood as replacement. Past medical history and a complete physical examination were uniformative. Family history revealed that her mother (Case NF) had also suffered from recurrent hemorrhages in middle age. Address reprint requests to: Paul Jaques, M.D., Department of Radiology, University of North Carolina, Chapel Hill, NC 27514, USA
Fig. 1. Case CH. Chest radiograph showing moderate cardiac enlargement and prominent pulmonary vascularity
150
P. Jaques and D. Delany: Hepatic Hereditary Telangiectasia
Fig. 2. Case CH A Composite picture of early arterial phase of selective right (small arrow) and left (broad arrow) hepatic angiogram. Note the uniformly enlarged and tortuous arteries
B Composite picture of late arterial phase. Note opacification of large hepatic veins (arrows)
Fig. 3. Case NF. Early arterial phase of celiac angiogram. Note the uniformly dilated and tortuous hepatic arteries. The late arterial phase (not shown) was similar to Case CH
P. Jaques and D. Delany: Hepatic Hereditary Telangiectasia
Fig. 4. Case CJ. Late arterial phase of celiac angiogram demonstrating early opacification of hepatic veins (arrows) a lowered hematocrit and evidence of blood in her stools prompted investigation of the source of bleeding. On each occasion visceral angiography demonstrated diffuse hepatic arteriovenous fistulas (Fig. 3) and an angioma of the right colon. On the second admission, barium enema examination revealed a polyp of the right colon. A right colectomy and open liver biopsy were performed. Histologic features of the liver included minimal portal fibrosis and prominent subcapsular vascular spaces, but it was otherwise entirely unremarkable. A d e n o m a t o u s polyps were found in the colonic specimen.
Case CJ A 58-year-old black male presented in 1971 with a history of anorexia and abdominal pain. Over the previous 10 years he had suffered at least four major GI bleeds, plus n u m e r o u s episodes of epistaxis and in 1967 had undergone a vagotomy and gastrojejunostomy for peptic ulcer disease. Telangiectasia of the tongue and a family history of nosebleeds had allowed a diagnosis of H H T to be made. At the time of surgery, hemosiderin-laden lymph nodes in the retroperitoneum were noted. An open liver biopsy was reported as normal. On this admission visceral angiography was prompted by the presence of a loud systolic bruit in the epigastrium. Angiographic findings included celiac and renal artery stenosis in addition to massive generalized hepatic arterio-venous fistulization (Fig. 4).
Discussion
HHT is an autosomal dominant condition whose phenotypic presentation varies from a very mild to severe
151
bleeding tendency. As in our cases, a clinical presentation in middle age is common. Cutaneous manifestations are frequently absent, especially in the younger age group. None of our cases, who were all black, demonstrated skin stigmata [1]. Mucosal telangiectasiae are reported [2] as being invariably present though endoscopy may be required to identify them. In view of this, it is not surprising that GI bleeding and/or epistaxis are particularly common modes of presentation [2], ranging from chronic mild hypochromic anemia to major gastrointestinal bleeds. The peptic ulcer history of Case CJ demonstrates, however, the importance of excluding more common sources of bleeding in these patients, particularly as the Incidence of peptic ulcer disease is increased in this condition [3]. Apart from its interest as a clinical oddity, the diagnosis of H H T allows a more rational approach to the management of these patients [4], particularly with respect to ultracautious endoscopy and nasogastric tube placement. Its diagnosis may also provide the answer to a previously unexplained cardiomegaly and mild pulmonary plethora. Although reported as rare [5], such a hyperdynamic circulatory chest radiograph was present in all three of our cases and may indeed be an important diagnostic clue to the radiologist faced with the investigation of an acute gastointestinal bleeder, enabling early recognition of the characteristic angiographic findings of HHT. In our cases the pulmonary plethora suggested chronically raised cardiac output. In view of the widespread arterio-venous shunting, visceral and mucocutaneous, it is perhaps surprising that pulmonary vascular changes are not reported more often in this condition. Pulmonary arteriovenous fistulae, whille often co-existing, result in a characteristically different chest radiograph. Halpern et al. [6] have summarized the major abdominal findings to include congenital visceral aneurysm, direct arteriovenous and arteriocapillary-venous shunting in the bowel and liver, local phlebectasia, and discrete angiomata. All of our cases demonstrated uniformly dilated and tortuous hepatic arteries, a moderately dense, slightly mottled hepatogram, and early but no immediate hepatic vein opacification. These findings are diagnostic of this condition. Their presence in the liver should alert the radiologist to the possibility of other lesions in the bowel, kidneys, lungs, and even brain [7]. Case NF, for example, had the additional small angioma of the ascending colon. None of our cases had any significant degree of splenomegaly, probably reflecting the absence of any significant cirrhotic process. Cirrhosis is not uncommonly associated with HHT, various etiologies such as hepatitis secondary to multiple transfusions,
152
congestive cardiac failure, or the direct effect of the intrahepatic arteriovenous shunting being postulated. There is one case report in the literature [8] of portosystemic encephalopathy attributable to portal shunting in the absence of cirrhosis. One important point which emerges from the two cases who were subjected to open liver biopsy was the unimpressive histology in this condition in contrast to the dramatic angiogram. Unless extensive cirrhosis is present, the only significant finding may well be the presence of slightly ectatic vascular channels [6]. Stains for elastic tissue may reveal its deficiency in the walls of the vessels. Acknowledgments. We acknowledge and thank Dr, Irwin Johnsrude of the Department of Radiology, Duke Hospital, Durham, N.C. USA. for permission to use case CJ in this paper.
P. Jaques and D. Delany: Hepatic Hereditary Telangiectasia 2. Halpern M, Turner AF, Citron BP: Angiodysplasias of the abdominal viscera associated with hereditary hemorrhagic telangiectasis. Am J Roentgenol Radium Ther Nucl Med 102:783 789. 1968 3. Smith CR Jr, Bartholomew LG, Cain JC: Hereditary haemorrhagic telangiectasia and gastrointestinal haemorrhage. Gastroenterology 44." 1 6, 1963 4. Kinkhabwala MN, Becker JA, Rabinowitz JG: Osier-Weber+ Rendu syndrome with multiple angiographic findings. Br J Ra+ diol 45.'534 536. 1972 5. Razi B, Belier BM, Ghidoni J, Linharg JW, Talley RC, Urban E: Hyperdynamic circulatory state due to intrahepatic fistula in Osler-Weber-Rendu disease, Am J Med 50.'809-815, 1971 6. Halpern M, Turner AF, Citron BP: Hereditary hemorrhagic telangiectasis. Radiology 90. 1143 1149, 1968 7. Chandler D: Pulmonary and cerebral arteriovenous fistula with Osler's disease. Arch bTtern Med 1/.'277 281. 1965 8. Michaeli D, Ben-Bassett I, Miller HI, Deutsch V: Hepatic telangiectases and portosystemic encephalopathy in Osler-WeberRendu disease. Gastroenterology 54.'929 932, 1968
References 1. Smith JL, Lineback MI: Hereditary hemorrhagic telangiectasia: Nine cases in one negro family with special reference to hepatic lesions. Am J Med 17:41~,9, 1954
Receired." May 26, I977: accepted: June 20, 1977
Gastrointest Radiol 2, 149- 152 (1977)
Radiology 9 by Springer-Verlag 1977
Hepatic Angiography in Hereditary Hemorrhagic Telangiectasia Paul Jaques and David Delany Department of Radiology, School of Medicine, University of North Carolina, Chapel Hill, North Carolina, USA
Abstract. Three patients presenting with gastrointestinal bleeding and characteristic radiologic findings of hereditary hemorrhagic telangiectasia are described. Emphasis is placed not only on the angiodysplasia evident from abdominal angiography, but also on the demonstration by the chest radiograph of a chronic mild hyperdynamic state. Key words: Gastrointestinal bleeding - Liver - Telangiectasia - A n g i o g r a p h y - Pulmonary plethora.
Investigations, including a full blood count, serum electrolytes, and liver function tests, were within normal limits. A recent upper GI examination was entirely normal. A chest X-ray demonstrated mild cardiomegaly and generalized pulmonary vascular prominence (Fig. 1). Celiac and superior mesenteric angiography were performed, demonstrating diffuse arteriovenous shunting throughout the liver (Fig. 2A and B). Subsequently endoscopy revealed gastric mucosal telangiectasia, though biopsy was reported as normal. The patient was discharged for close outpatient followup.
Case N F
Angiography is accepted as part of the investigation of patients with gastrointestinal (GI) bleeding of varying severity. Hereditary hemorrhagic telangiectasia (HHT) is a relatively rare condition but our recent experience in finding three cases with such similar and pathognomonic radiologic findings indicated a need for review. These three patients represent 0.5% of 610 patients studied angiographically for GI bleeding at neighboring institutions during the last eight years. In only one case was the diagnosis suggested before angiography from observation of glossal telangiectasia.
A 49-year-old black female (the mother of Case CH) was admitted in 1969 and 1971 for investigation of symptoms of nervousness and fatigue. On each occasion, among other medical problems,
Case Reports Case CH
A 41-year-old black female was referred (June 1976) for investigation of recurrent gastointestinal (GI) hemorrhage over the previous nine months requiring a total of 13 units of whole blood as replacement. Past medical history and a complete physical examination were uniformative. Family history revealed that her mother (Case NF) had also suffered from recurrent hemorrhages in middle age. Address reprint requests to: Paul Jaques, M.D., Department of Radiology, University of North Carolina, Chapel Hill, NC 27514, USA
Fig. 1. Case CH. Chest radiograph showing moderate cardiac enlargement and prominent pulmonary vascularity
150
P. Jaques and D. Delany: Hepatic Hereditary Telangiectasia
Fig. 2. Case CH A Composite picture of early arterial phase of selective right (small arrow) and left (broad arrow) hepatic angiogram. Note the uniformly enlarged and tortuous arteries
B Composite picture of late arterial phase. Note opacification of large hepatic veins (arrows)
Fig. 3. Case NF. Early arterial phase of celiac angiogram. Note the uniformly dilated and tortuous hepatic arteries. The late arterial phase (not shown) was similar to Case CH
P. Jaques and D. Delany: Hepatic Hereditary Telangiectasia
Fig. 4. Case CJ. Late arterial phase of celiac angiogram demonstrating early opacification of hepatic veins (arrows) a lowered hematocrit and evidence of blood in her stools prompted investigation of the source of bleeding. On each occasion visceral angiography demonstrated diffuse hepatic arteriovenous fistulas (Fig. 3) and an angioma of the right colon. On the second admission, barium enema examination revealed a polyp of the right colon. A right colectomy and open liver biopsy were performed. Histologic features of the liver included minimal portal fibrosis and prominent subcapsular vascular spaces, but it was otherwise entirely unremarkable. A d e n o m a t o u s polyps were found in the colonic specimen.
Case CJ A 58-year-old black male presented in 1971 with a history of anorexia and abdominal pain. Over the previous 10 years he had suffered at least four major GI bleeds, plus n u m e r o u s episodes of epistaxis and in 1967 had undergone a vagotomy and gastrojejunostomy for peptic ulcer disease. Telangiectasia of the tongue and a family history of nosebleeds had allowed a diagnosis of H H T to be made. At the time of surgery, hemosiderin-laden lymph nodes in the retroperitoneum were noted. An open liver biopsy was reported as normal. On this admission visceral angiography was prompted by the presence of a loud systolic bruit in the epigastrium. Angiographic findings included celiac and renal artery stenosis in addition to massive generalized hepatic arterio-venous fistulization (Fig. 4).
Discussion
HHT is an autosomal dominant condition whose phenotypic presentation varies from a very mild to severe
151
bleeding tendency. As in our cases, a clinical presentation in middle age is common. Cutaneous manifestations are frequently absent, especially in the younger age group. None of our cases, who were all black, demonstrated skin stigmata [1]. Mucosal telangiectasiae are reported [2] as being invariably present though endoscopy may be required to identify them. In view of this, it is not surprising that GI bleeding and/or epistaxis are particularly common modes of presentation [2], ranging from chronic mild hypochromic anemia to major gastrointestinal bleeds. The peptic ulcer history of Case CJ demonstrates, however, the importance of excluding more common sources of bleeding in these patients, particularly as the Incidence of peptic ulcer disease is increased in this condition [3]. Apart from its interest as a clinical oddity, the diagnosis of H H T allows a more rational approach to the management of these patients [4], particularly with respect to ultracautious endoscopy and nasogastric tube placement. Its diagnosis may also provide the answer to a previously unexplained cardiomegaly and mild pulmonary plethora. Although reported as rare [5], such a hyperdynamic circulatory chest radiograph was present in all three of our cases and may indeed be an important diagnostic clue to the radiologist faced with the investigation of an acute gastointestinal bleeder, enabling early recognition of the characteristic angiographic findings of HHT. In our cases the pulmonary plethora suggested chronically raised cardiac output. In view of the widespread arterio-venous shunting, visceral and mucocutaneous, it is perhaps surprising that pulmonary vascular changes are not reported more often in this condition. Pulmonary arteriovenous fistulae, whille often co-existing, result in a characteristically different chest radiograph. Halpern et al. [6] have summarized the major abdominal findings to include congenital visceral aneurysm, direct arteriovenous and arteriocapillary-venous shunting in the bowel and liver, local phlebectasia, and discrete angiomata. All of our cases demonstrated uniformly dilated and tortuous hepatic arteries, a moderately dense, slightly mottled hepatogram, and early but no immediate hepatic vein opacification. These findings are diagnostic of this condition. Their presence in the liver should alert the radiologist to the possibility of other lesions in the bowel, kidneys, lungs, and even brain [7]. Case NF, for example, had the additional small angioma of the ascending colon. None of our cases had any significant degree of splenomegaly, probably reflecting the absence of any significant cirrhotic process. Cirrhosis is not uncommonly associated with HHT, various etiologies such as hepatitis secondary to multiple transfusions,
152
congestive cardiac failure, or the direct effect of the intrahepatic arteriovenous shunting being postulated. There is one case report in the literature [8] of portosystemic encephalopathy attributable to portal shunting in the absence of cirrhosis. One important point which emerges from the two cases who were subjected to open liver biopsy was the unimpressive histology in this condition in contrast to the dramatic angiogram. Unless extensive cirrhosis is present, the only significant finding may well be the presence of slightly ectatic vascular channels [6]. Stains for elastic tissue may reveal its deficiency in the walls of the vessels. Acknowledgments. We acknowledge and thank Dr, Irwin Johnsrude of the Department of Radiology, Duke Hospital, Durham, N.C. USA. for permission to use case CJ in this paper.
P. Jaques and D. Delany: Hepatic Hereditary Telangiectasia 2. Halpern M, Turner AF, Citron BP: Angiodysplasias of the abdominal viscera associated with hereditary hemorrhagic telangiectasis. Am J Roentgenol Radium Ther Nucl Med 102:783 789. 1968 3. Smith CR Jr, Bartholomew LG, Cain JC: Hereditary haemorrhagic telangiectasia and gastrointestinal haemorrhage. Gastroenterology 44." 1 6, 1963 4. Kinkhabwala MN, Becker JA, Rabinowitz JG: Osier-Weber+ Rendu syndrome with multiple angiographic findings. Br J Ra+ diol 45.'534 536. 1972 5. Razi B, Belier BM, Ghidoni J, Linharg JW, Talley RC, Urban E: Hyperdynamic circulatory state due to intrahepatic fistula in Osler-Weber-Rendu disease, Am J Med 50.'809-815, 1971 6. Halpern M, Turner AF, Citron BP: Hereditary hemorrhagic telangiectasis. Radiology 90. 1143 1149, 1968 7. Chandler D: Pulmonary and cerebral arteriovenous fistula with Osler's disease. Arch bTtern Med 1/.'277 281. 1965 8. Michaeli D, Ben-Bassett I, Miller HI, Deutsch V: Hepatic telangiectases and portosystemic encephalopathy in Osler-WeberRendu disease. Gastroenterology 54.'929 932, 1968
References 1. Smith JL, Lineback MI: Hereditary hemorrhagic telangiectasia: Nine cases in one negro family with special reference to hepatic lesions. Am J Med 17:41~,9, 1954
Receired." May 26, I977: accepted: June 20, 1977
