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Abdomen » Hepatobiliary
Hereditary Hemorrhagic Telangiectasia
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Author(s) :
Danilo Sirigu, MD
 
Presentation A 69-year-old woman, with abdominal pain, hepatomegaly, congestive heart failure, epistaxis and melena
 
 
Caption: Real-time ultrasound of upper abdomen
Description: Hepatomegaly with abnormal echogenicity of the liver parenchyma with hepatic nodular change, and some vascular alterations including hepatic artery dilation associated with tubular structures parallel to the portal branches representing dilated arterial branches.
 
 
Caption: Real-time ultrasound of upper abdomen
Description: Hepatomegaly with abnormal echogenicity of the liver parenchyma with hepatic nodular change, and some vascular alterations including hepatic artery dilation associated with tubular structures parallel to the portal branches representing dilated arterial branches.
 
 
Caption: Color Doppler of upper abdomen
Description: Doppler color flow imaging showed peripheral hypervascularization, tortuous small vessel and arterioportal shunts.
 
 
 
Caption: Real-time ultrasound of upper abdomen
Description: Hepatomegaly with abnormal echogenicity of the liver parenchyma with hepatic nodular change, and some vascular alterations including hepatic artery dilation associated with tubular structures parallel to the portal branches representing dilated arterial branches.
 
Differential Diagnosis chirrhosis with portal hypertension and focal nodular hyperplasia
pseudocirrhosis
hereditary hemorrhagic telangiectasia

 
Final Diagnosis Hereditary hemorrhagic telangiectasia
 
Discussion The patient underwent a conventional US and colour Doppler of the abdomen. The US showed a hepatomegaly with abnormal echogenicity of the liver parenchyma with hepatic nodular change, and some vascular alterations : hepatic artery dilation associated with tubular structures parallel to the portal branches. These structures correspond to dilated arterial branches. Doppler color flow imaging showed peripheral hypervascularization, tortuous small vessel and arterioportal shunts.

Hereditary hemorrhagic telangiectasia ( HHT ), or Osler-Weber-Rendu disease, was first recognized in 1896. It is an autosomal dominant disorder with variable penetrance characterized by epistaxis, mucocutaneous telangiectases, and visceral arteriovenous malformations.

Hereditary hemorrhagic telangiectasia is a multisystem disease with a variety of imaging manifestations. Pulmonary, cerebral, and spinal arteriovenous malformations have been well documented in patients with HHT. The prevalence of liver involvement in hereditary hemorrhagic telangiectasia ranges from 8–30%, with more than half the patients being asymptomatic. Clinical presentations of hepatic involvement have been described: high-output heart failure, portal hypertension, biliary cystic disease, hepatic fibrosis and nodular hyperplasia. Nodular hyperplasia is characterized by the presence of regenerative nodules that compress the surrounding liver parenchyma.

Sonographic findings of "diameter of the common hepatic artery (>7 mm) and intrahepatic hypervascularization are primary diagnostic criteria, reinforced by finding of dilated intrahepatic arteries". (9)

The combination of fibrosis, nodular regenerative hyperplasia and portal hypertension may lead to a misdiagnosis of cirrhosis. (pseudocirrhosis)
 
Case References
  1. Buscarini E., Plauchu H.; Garcia T., Guadalupe W., Robert I. Sabbà C.; Miller F.; Saurin, J.C., Pelage J.P.; Lesca G.; Marion M.J.; Perna A.; Faughnan M.; Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations. Liver International, Volume 26, Number 9, November 2006 , pp. 1040-1046(7)
  2. Buscarini E, Danesino C, Plauchu H, et al. High prevalence of hepatic focal nodular hyperplasia in subjects with hereditary hemorrhagic telangiectasia. Ultrasound Med Biol 2004; 30: 1089–97.
  3. Buscarini E, Buscarini L, Danesino C, et al. Hepatic vascular malformations in hereditary hemorrhagic telangiectasia – Doppler sonographic screening in a large family. J Hepatol 1997; 26: 111–8.
  4. Dibilio – E.Quaia – M.Bertolotto – C. Gasparini – M. Cravatari – R. Pozzi Macelli ; Color Doppler features of hepatic involvement in Rendu-Osler-Weber disease. La Radiologia Medica - Radiol Med 105: 394-398, 2003
  5. Goto T, Dohmen T, Yoneyama K, Monma A, Ohshima S, Shibuya T, Kataoka E, Segawa D, Sato W, Takeuchi S, Anezaki Y, Ishii H, Yamada I, Komatsu M, Watanabe S.  Osler-Weber-Rendu disease with esophageal varices and hepatic nodular change. Intern Med. 2007;46(12):849-54. Epub 2007 Jun 15.
  6. Naganuma H, Ishida H, Niizawa M, Igarashi K,Shioya T, Masamune O. Hepatic involvement in Osler Weber Rendu disease: findings on pulsed and color Doppler sonography. Am J Roentgenol 1995; 165: 1421–5.
  7. Garcia-Tsao G, Korzenik J, Yo u n g L, et al. Liver disease in patients with hereditary hemorrhagic telangiectasia. New Engl J Med 2000; 343: 931–6.
  8. Wa n l e s s I R, Gryfe A. Nodular transformation of the liver in hereditary hemorrhagic telangiectasia. Arch Pathol Lab Med 1986; 110: 331–5.
  9. Martin Caselitz, Matthias J. Bahr, Jorg S. Bleck, Ajay Chavan, Michael P. Manns, Siegfried Wagner, Michael Gebel.  Sonographic criteria for the diagnosis of hepatic involvement in hereditary hemorrhagic telangiectasia (HHT).  Hepatology 37, No5. 1139-1146.  2003

 
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