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  • Budd-Chiari syndrome (see chapter on Budd-Chiari syndrome)

  • Portal vein thrombosis (see chapter on portal vein thrombosis)

  • Bone marrow rejection (graft versus host disease)

  • Congenital vascular malformations (hereditary hemorrhagic telangiectasia)

Hereditary Hemorrhagic Telangiectasia

  • Autosomal dominant genetic etiology:

    • Gene mutations:

      • Endoglin (ENG)

      • Activin receptor–like kinase type 1 (ALK-1)

  • Prevalence:

    • One to 2 cases/10,000

    • Only 75% of patients have vascular malformations in the liver demonstrable through sensitive imaging

    • Only 8% of patients with visible liver vascular malformations are symptomatic

  • Pathophysiology (Fig. 13-1)

  • Clinical features (Table 13-1)

    • The vascular malformations can involve the lung, brain, and/or liver (Fig. 13-2).

    • Liver symptoms appear around age 30

    • The 3 most common initial presentations are:

      • High-output heart failure

      • Portal hypertension

      • Biliary ischemia

  • Diagnosis:

    • Angiography is the gold standard in the diagnosis of liver vascular malformations

    • Genetic studies: Two most common coding sequence mutations

      • ENG

      • ALK-1

    • Other alternatives are:

      • Doppler ultrasonography (showing enlarged hepatic artery and intrahepatic hypervascularization)

      • Multiphase computed tomography (CT) or magnetic resonance imaging (MRI), searching for heterogeneous hepatic enhancement (Fig. 13-3)

      • Magnetic resonance angiography (MRA) searching for the vascular malformation (Fig. 13-4)

  • Management:

    • Symptomatic treatment:

      • Intensive medical therapy for high output heart failure

      • Cirrhosis management for portal hypertension

      • Biliary ischemia

        • Abdominal pain responds to nonsteroidal anti-inflammatory drugs (NSAIDs)

        • In case of cholangitis, add systemic antibiotics

        • Invasive biliary imaging procedures, such as endoscopic retrograde cholangiography, should be avoided

        • Ursodeoxycholic acid could be helpful

    • Shunt reduction treatment:

      • Antiangiogenic drugs such as bevacizumab could be helpful

      • Transarterial embolization

      • Surgical ligation of the hepatic artery

    • Liver transplant as final definitive curative option


Pathophysiology of HHT. ALK-1, Activin receptor–like kinase type 1; ENG, endoglin; TGF-β, transforming growth factor beta.


Axial and coronal thorax CT with vascular malformations.


Axial and coronal abdominal CT with vascular malformations.


Abdominal MRA with vascular malformations.

TABLE 13-1Clinical Features in HHT

Isolated Congenital Liver Shunts (Table 13-2)

HELLP Syndrome

  • Risk factors:

    • Preeclampsia


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