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Published in: Clinical Journal of Gastroenterology 2/2009

01-04-2009 | Case Report

Hereditary hemorrhagic telangiectasia with multiple hepatic and pulmonary nodular lesions

Authors: Yasuyuki Shimoyama, Satoru Kakizaki, Akiko Katano, Satoshi Takakusaki, Masafumi Mizuide, Takeshi Ichikawa, Ken Sato, Hitoshi Takagi, Masatomo Mori

Published in: Clinical Journal of Gastroenterology | Issue 2/2009

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Abstract

A 50-year-old female visited the hospital for further evaluation of multiple pulmonary and hepatic nodules. First, she visited her primary physician for general fatigue due to anemia. She had recurrent epistaxis, and her mother had suffered from hereditary hemorrhagic telangiectasia (HHT). Telangiectasias were present in the stomach. This patient was diagnosed with HHT. Computed tomography (CT) revealed multiple pulmonary and hepatic nodules. The pulmonary nodules were due to bleeding from arteriovenous malformations of the lung. Abdominal CT and angiography showed a dilated and meandering hepatic artery, arteriovenous shunts and multiple hepatic nodules. Gadolinium-ethoxybenzyl-diethylenetriamine pentaacetic acid (Gd-EOB-DTPA)-enhanced magnetic resonance imaging (MRI) showed enhancement in the early dynamic phase and in the liver-specific phase. A liver tumor biopsy of a hepatic nodule showed nodular regenerative hyperplasia (NRH). This report presents a case of HHT with multiple pulmonary and hepatic nodular lesions. Gd-EOB-DTPA-enhanced MRI was useful for making a diagnosis of NRH.
Literature
1.
go back to reference Guttmacher AE, Marchuk DA, White RI Jr. Hereditary hemorrhagic telangiectasia. N Engl J Med. 1995;333:918–24.CrossRefPubMed Guttmacher AE, Marchuk DA, White RI Jr. Hereditary hemorrhagic telangiectasia. N Engl J Med. 1995;333:918–24.CrossRefPubMed
2.
go back to reference Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu–Osler–Weber syndrome). Am J Med Genet. 2000;91:66–7.CrossRefPubMed Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu–Osler–Weber syndrome). Am J Med Genet. 2000;91:66–7.CrossRefPubMed
3.
go back to reference Sadick H, Sadick M, Götte K, Naim R, Riedel F, Bran G, et al. Hereditary hemorrhagic telangiectasia: an update on clinical manifestations and diagnostic measures. Wien Klin Wochenschr. 2006;118:72–80.CrossRefPubMed Sadick H, Sadick M, Götte K, Naim R, Riedel F, Bran G, et al. Hereditary hemorrhagic telangiectasia: an update on clinical manifestations and diagnostic measures. Wien Klin Wochenschr. 2006;118:72–80.CrossRefPubMed
4.
go back to reference McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet. 1994;8:345–51.CrossRefPubMed McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet. 1994;8:345–51.CrossRefPubMed
5.
go back to reference Wallace GM, Shovlin CL. A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlinked to the known HHT genes, endoglin and ALK-1. Thorax. 2000;55:685–90.CrossRefPubMedPubMedCentral Wallace GM, Shovlin CL. A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlinked to the known HHT genes, endoglin and ALK-1. Thorax. 2000;55:685–90.CrossRefPubMedPubMedCentral
6.
go back to reference Garcia-Tsao G. Liver involvement in hereditary hemorrhagic telangiectasia (HHT). J Hepatol. 2007;46:499–507.CrossRefPubMed Garcia-Tsao G. Liver involvement in hereditary hemorrhagic telangiectasia (HHT). J Hepatol. 2007;46:499–507.CrossRefPubMed
7.
go back to reference Buscarini E, Plauchu H, Garcia Tsao G, White RI Jr, Sabbà C, Miller F, et al. Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations. Liver Int. 2006;26:1040–6.CrossRefPubMed Buscarini E, Plauchu H, Garcia Tsao G, White RI Jr, Sabbà C, Miller F, et al. Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations. Liver Int. 2006;26:1040–6.CrossRefPubMed
8.
go back to reference Goto T, Dohmen T, Yoneyama K, Monma A, Ohshima S, Shibuya T, et al. Osler–Weber–Rendu disease with esophageal varices and hepatic nodular change. Intern Med. 2007;46:849–54.CrossRefPubMed Goto T, Dohmen T, Yoneyama K, Monma A, Ohshima S, Shibuya T, et al. Osler–Weber–Rendu disease with esophageal varices and hepatic nodular change. Intern Med. 2007;46:849–54.CrossRefPubMed
9.
go back to reference Buscarini E, Danesino C, Plauchu H, de Fazio C, Olivieri C, Brambilla G, et al. High prevalence of hepatic focal nodular hyperplasia in subjects with hereditary hemorrhagic telangiectasia. Ultrasound Med Biol. 2004;30:1089–97.CrossRefPubMed Buscarini E, Danesino C, Plauchu H, de Fazio C, Olivieri C, Brambilla G, et al. High prevalence of hepatic focal nodular hyperplasia in subjects with hereditary hemorrhagic telangiectasia. Ultrasound Med Biol. 2004;30:1089–97.CrossRefPubMed
10.
go back to reference Zech CJ, Grazioli L, Breuer J, Reiser MF, Schoenberg SO. Diagnostic performance and description of morphological features of focal nodular hyperplasia in Gd-EOB-DTPA-enhanced liver magnetic resonance imaging: results of a multicenter trial. Invest Radiol. 2008;43:504–11.CrossRefPubMed Zech CJ, Grazioli L, Breuer J, Reiser MF, Schoenberg SO. Diagnostic performance and description of morphological features of focal nodular hyperplasia in Gd-EOB-DTPA-enhanced liver magnetic resonance imaging: results of a multicenter trial. Invest Radiol. 2008;43:504–11.CrossRefPubMed
11.
go back to reference Garcia-Tsao G, Korzenik JR, Young L, Henderson KJ, Jain D, Byrd B, et al. Liver disease in patients with hereditary hemorrhagic telangiectasia. N Engl J Med. 2000;343:931–6.CrossRefPubMed Garcia-Tsao G, Korzenik JR, Young L, Henderson KJ, Jain D, Byrd B, et al. Liver disease in patients with hereditary hemorrhagic telangiectasia. N Engl J Med. 2000;343:931–6.CrossRefPubMed
12.
go back to reference Jameson CF. Primary hepatocellular carcinoma in hereditary haemorrhagic telangiectasia: a case report and literature review. Histopathology. 1989;15:550–2.CrossRefPubMed Jameson CF. Primary hepatocellular carcinoma in hereditary haemorrhagic telangiectasia: a case report and literature review. Histopathology. 1989;15:550–2.CrossRefPubMed
13.
go back to reference Sussman EB, Sternberg SS. Hereditary hemorrhagic telangiectasia. A case with hepatocellular carcinoma and acquired hepatocerebral degeneration. Arch Pathol. 1975;99:95–100.PubMed Sussman EB, Sternberg SS. Hereditary hemorrhagic telangiectasia. A case with hepatocellular carcinoma and acquired hepatocerebral degeneration. Arch Pathol. 1975;99:95–100.PubMed
14.
go back to reference Khalid SK, Garcia-Tsao G. Hepatic vascular malformations in hereditary hemorrhagic telangiectasia. Semin Liver Dis. 2008;28:247–58.CrossRefPubMed Khalid SK, Garcia-Tsao G. Hepatic vascular malformations in hereditary hemorrhagic telangiectasia. Semin Liver Dis. 2008;28:247–58.CrossRefPubMed
15.
go back to reference Kondo F. Benign nodular hepatocellular lesions caused by abnormal hepatic circulation: etiological analysis and introduction of a new concept. J Gastroenterol Hepatol. 2001;16:1319–28.CrossRefPubMed Kondo F. Benign nodular hepatocellular lesions caused by abnormal hepatic circulation: etiological analysis and introduction of a new concept. J Gastroenterol Hepatol. 2001;16:1319–28.CrossRefPubMed
16.
go back to reference Cottin V, Dupuis-Girod S, Lesca G, Cordier JF. Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease). Respiration. 2007;74:361–78.CrossRefPubMed Cottin V, Dupuis-Girod S, Lesca G, Cordier JF. Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease). Respiration. 2007;74:361–78.CrossRefPubMed
17.
go back to reference Hisamatsu K, Ueeda M, Ando M, Koike K, Matsuo N, Matsu-ura K, et al. Peripheral arterial coil embolization for hepatic arteriovenous malformation in Osler–Weber–Rendu disease; useful for controlling high output heart failure, but harmful to the liver. Intern Med. 1999;38:962–8.CrossRefPubMed Hisamatsu K, Ueeda M, Ando M, Koike K, Matsuo N, Matsu-ura K, et al. Peripheral arterial coil embolization for hepatic arteriovenous malformation in Osler–Weber–Rendu disease; useful for controlling high output heart failure, but harmful to the liver. Intern Med. 1999;38:962–8.CrossRefPubMed
Metadata
Title
Hereditary hemorrhagic telangiectasia with multiple hepatic and pulmonary nodular lesions
Authors
Yasuyuki Shimoyama
Satoru Kakizaki
Akiko Katano
Satoshi Takakusaki
Masafumi Mizuide
Takeshi Ichikawa
Ken Sato
Hitoshi Takagi
Masatomo Mori
Publication date
01-04-2009
Publisher
Springer Japan
Published in
Clinical Journal of Gastroenterology / Issue 2/2009
Print ISSN: 1865-7257
Electronic ISSN: 1865-7265
DOI
https://doi.org/10.1007/s12328-008-0054-8

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