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Hereditary Hemorrhagic Telangiectasia Osler-Weber-Rendu syndrome

Osler-Weber-Rendu. Initially described as a familial disease with abnormal vascular structures causing bleeding from the nose and GI tract1896 - Henri Rendu describes the first classic case1901 - Sir William Osler describes an inherited disease of inadequate vessels"First to suspect liver involv

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Hereditary Hemorrhagic Telangiectasia Osler-Weber-Rendu syndrome

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    1. Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu syndrome) Scott Gabbard, MD 04/20/2009

    2. Osler-Weber-Rendu Initially described as a familial disease with abnormal vascular structures causing bleeding from the nose and GI tract 1896 - Henri Rendu describes the first classic case 1901 - Sir William Osler describes an inherited disease of “inadequate vessels” First to suspect liver involvement 1907 - Frederick Weber publishes extensively on the subject

    3. Overview Onset of disease 50% diagnosed by 16, 90% by age 40 Incidence 1:5000 to 1:8000 Less common in African-Americans Higher incidence in Mormons and those of Caribbean origin

    4. Pathophysiology Autosomal dominant trait Varying penetrance and expression Thought to be due to mutations in Transferring Growth Factor (TGF)-beta signaling Plays a role in regulation of cell proliferation, angiogenesis, wound healing, embryonic development

    5. Pathophysiology The end result is that post-capillary venules enlarge and connect to enlarging arterioles, thus forming direct arteriolar-venular connections

    6. Clinical features Telangiectasia Epistaxis GI bleeding Pulmonary AVMs Cerebral AVMs Liver involvement

    7. Telangiectasia

    8. GI bleeding More common to have angiodysplasia in the upper GI tract

    9. Pulmonary AVMs Majority of patients with pulmonary AVMs have no symptoms 1/3 of patients show signs of right-to-left shunt (cyanosis, polycythemia) Pulmonary hemorrhage is rare, except in pregnancy (1.4%)

    10. Cerebral AVMs Affect ~10% of HHT patients Majority are silent Hemorrhage is less likely with HHT than other causes of cerebral AVMs because of the lower association with aneurysms However, HHT patients are 23x more likely to have a hemorrhagic stroke than the general population

    11. Cerebral AVM

    12. Hepatic involvement 8-31% of patients with HHT Left-to-Right AV shunting Hepatic artery to hepatic vein Arterioportal shunting Hepatic artery to portal veins Recurrent encephalopathy is common in patients with large shunt Lesions may be embedded in dense fibrous tissue, leading to a nodular appearance of the liver (pseudocirrhosis)

    13. High-output heart failure High-output heart failure often described in patients with left-to-right intrahepatic shunts Almost always hepatic artery to hepatic vein Occurs once shunt output is > 20%

    14. Hepatic AVMs

    15. HHT diagnosis Three out of four is considered “definite” Spontaneous and recurrent epistaxis Multiple mucocutaneous telangiectasias Visceral involvement Diagnose by doppler US, CT angiography, MRI, angiography First degree relative with HHT

    16. HHT - Treatment Most common complications of HHT: epistaxis and GI bleeding Treat patients similar to those without HHT Iron deficiency anemia is common

    17. Treatment of AVMs Pulmonary AVMs are treated with embolotherapy, usually with a detachable balloon Cerebral AVMs are treated with embolectomy, surgical removal, or stereotactic radiotherapy

    18. Hepatic involvement Arterial embolization Associated with 43% risk of serious/fatal complications, most are related to hepatic/biliary necrosis Liver Transplant Recent review article documented 28 OLT attemps for patients with HHT, 24 patients were still living at the time of publish One patient with high-output CHF underwent OLT, her cardiac index fell from 6.7 to 3.8 and she was doing well at last report

    19. References Geneva Foundation for Medical Education and Research http://www.ajronline.org/content/vol187/6_Supplement/images/large/12_05_1602_01c.jpeg Liver disease in hereditary hemorrhagic telangiectasia, Larson AM, Journal of Clinical Gastroenterology. 2003 Feb;36(2):149-58 Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations. Buscarini et al. Liver Int. 2006 Nov;26(9):1040-6 MedGadget, http://medgadget.com/archives/2005/03/triactiv_balloo.html St. John Health System, http://www.stjohn.org/images/Services/ed_avmart.jpg The Role of Liver Transplantation in the Treatment of Hereditary Hemorrhagic Telangiectasia: A Short Literature Review. Scelzo et al. Transplantation Proceedings. Volume 39, Issue 6, July-August 2007, Pages 2045-2047 Uptodate.com

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