Teaching Case

39-year-old female patient presented with progressive abdominal pain and repeated episodes of epistaxis.
Clinical examinations reveal tongue telangiectasia and hepatomegaly.
CRP level (80 mg/l).

39 year-old female patient was referred to our hospital with abdominal pain and history of repeated epistaxis.
On clinical examinations she was stable, general examinations revealed tongue telangiectasia, abdominal examination revealed hepatomegaly with no evidence of right ventricular failure.
The patient underwent abdominal ultrasound (US), multiphasic CT and complementary MRI of the abdomen on 1.5-T using T1-weighted, T2- weighted and dynamic gadolinium-enhanced technique.
Abdominal US showed hepatomegaly with heterogeneous liver parenchyma and dilated hepatic vessels. CT and MRI confirmed dilated hepatic arteries and veins and showed early diffuse enhancement of hepatic parenchyma during the arterial phase.

Rendu-Osler-Weber syndrome, also known as Hereditary Hemorrhagic Telangiectasia (HHT), is an autosomal dominant disorder characterised by recurrent epistaxis, mucocutaneous telangiectasia, and visceral arteriovenous malformations (AVM) that affect many organs, including the lungs, gastrointestinal tract, liver, and brain.
Liver involvement by HHT is characterised by widespread diffuse liver vascular malformations (VMs) that, given the dual blood supply to the liver, give rise to three types of shunting: arteriovenous (hepatic artery to hepatic vein), arterioportal (hepatic artery to portal vein), and portovenous (portal vein to hepatic vein).
Recent studies have shown that up to 60% of patients with HHT have liver involvement; but rarely show sudden, severe medical complications like lung and brain AVMs, and most are not currently treated. However, most of these patients are asymptomatic.
The clinical manifestations of HHT are known to be variable and age-dependent. Epistaxis is the first manifestation and the most common symptom (90%), but patients may have a variety of serious complications due to vascular involvement of internal organs, such as the gastrointestinal tract, the lungs, and the central nervous system.
Diagnostic imaging based on US, CT, MRI and digital subtraction angiography has a fundamental role in detecting visceral involvement in HHT patients and is therefore crucial for the prognostic assessment and therapeutic approach. However, multiphasic CT is probably the best noninvasive test for diagnosing HHT liver disease and for evaluation of the various shunts. With multiphasic CT, the type of shunt can be determined by evaluating early or differential enhancement of the hepatic or portal veins during the various phases of imaging. Diagnosis of HHT is made clinically by the Curaçao criteria, established in June 1999 by the Scientific Advisory Board of the HHT Foundation International, Inc.
Diagnosis is based on the Curaçao criteria and is considered to be positive if at least 3 of the following 4 criteria are met: 1- presence of spontaneous and recurrent epistaxis, 2- presence of telangiectasia, 3- familial history of the condition, 4- presence of internal lesions, such as GI telangiectasia, pulmonary AVM, hepatic AVM, cerebral AVM, spinal AVM.
Abdominal US in our patient revealed hepatomegaly with heterogeneous liver parenchyma and dilated hepatic veins. CT showed hepatomegaly with diffuse heterogeneous enhancement during the arterial phase which became partially homogeneous in venous phase and completely homogeneous in delayed phase; this appearance is suggestive of AVM.
Complementary MRI examination showed in gradient echo BTFE sequences multiple hyperintense micro-nodules and after injection of gadolinium an early filling of dilated hepatic veins with parenchymal enhancement during late arterial phase; these findings are suggestive of AVM.

Based on these findings, we have reached 3 out of 4 of the Curaçao criteria by history of repeated epistaxis, mucocutaneous telangiectasia and visceral AVM which suggests the diagnosis of Rendu-Osler-Weber disease.