Liver involvement in hereditary hemorrhagic telangiectasia

Area of Science:

• Vascular Medicine
• Radiology
• Genetics

Background:

• Hereditary hemorrhagic telangiectasia (HHT) commonly presents with liver vascular malformations (VMs).
• These VMs can range from small telangiectasias to severe arteriovenous malformations, impacting disease progression.
• Accurate assessment is crucial for patient management.

Purpose of the Study:

• To outline the diagnostic approach for liver VMs in HHT patients.
• To emphasize the role of Doppler US as a first-line investigation.
• To define the utility of CT and MRI in specific clinical scenarios.

Main Methods:

• Review of diagnostic imaging modalities for liver VMs in HHT.
• Evaluation of Doppler US for detection, diagnosis, and severity staging.
• Assessment of CT and MRI for complicated or symptomatic cases.

Main Results:

• Doppler US is safe, cost-effective, and accurate for initial liver VM assessment in HHT.
• Imaging findings from Doppler US (vessel caliber, flow, parenchymal changes) aid diagnosis and staging.
• Multiphase CT or MRI is indicated for complex or symptomatic VMs, especially when considering liver transplantation (OLT).

Conclusions:

• Doppler US is the preferred initial imaging modality for liver VMs in HHT.
• CT/MRI are valuable adjuncts for complex cases, guiding treatment decisions.
• Liver biopsy is not indicated for diagnosing HHT-related VMs or suspected focal nodular hyperplasia.