scholarly journals The Role of Liver Imaging in Hereditary Hemorrhagic Telangiectasia

2020 ◽  
Vol 9 (11) ◽  
pp. 3750
Author(s):  
Joelle Harwin ◽  
Mark D. Sugi ◽  
Steven W. Hetts ◽  
Miles B. Conrad ◽  
Michael A. Ohliger

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by spontaneous epistaxis, telangiectasia, and visceral vascular malformations. Hepatic vascular malformations are common, though a minority are symptomatic. Symptoms are dependent on the severity and exact type of shunting caused by the hepatic malformation: Arteriosystemic shunting leads to manifestations of high output cardiac failure, and arterioportal shunting leads to portal hypertension. Radiologic imaging, including ultrasound, computed tomography (CT), and magnetic resonance imaging (MRI), is an important tool for assessing liver involvement. Doppler ultrasonography is the first-line screening modality for HHT-related liver disease, and it has a standardized scale. Imaging can determine whether shunting is principally to the hepatic vein or the portal vein, which can be a key determinant of patients’ symptoms. Liver-related complications can be detected, including manifestations of portal hypertension, focal liver masses as well as ischemic cholangiopathy. Ultrasound and MRI also have the ability to quantify blood flow through the liver, which in the future may be used to determine prognosis and direct antiangiogenic therapy.

2021 ◽  
pp. 128-129
Author(s):  
Himanshu Dhiman ◽  
Akhil Katna

Hereditary hemorrhagic telangiectasia or Osler-Weber-Rendu syndrome is a rare autosomal dominant vascular disorder characterized by epistaxis, mucocutaneous telangiectasias, and arteriovenous malformations affecting various organs and systems. The liver is a commonly involved organ (74% of patients with hereditary hemorrhagic telangiectasia), although symptomatic liver disease is quite infrequent. In symptomatic cases, clinical manifestations relate most commonly to the predominant type of vascular shunting present (arteriovenous, arterioportal, or portovenous). Clinically, liver disease can manifest as a high-output cardiac failure, portal hypertension, or biliary disease. Imaging plays an important role in diagnosis, characterization, and follow-up of liver involvement, with ultrasound, computed tomography, magnetic resonance imaging, and angiography being useful in this context. We present a case of patient with Osler-Weber-Rendu syndrome with portal hypertension without evidence of liver cirrhosis.


Author(s):  
Mehmet Cingoz ◽  
Ali Kilic ◽  
Aylin Acar ◽  
İlkay Tosun ◽  
Direnc Ozlem Aksoy ◽  
...  

Abstract Background Aggressive angiomyxoma is an infrequent benign tumor that usually occurs in the pelvic region. Pelvic masses have variety of differential diagnosis but some featured findings should prompt the diagnosis of aggressive angiomyxoma by the radiologist. Case presentation A 40-year-old female patient presented with a two-year history of perineal swelling. Radiological examination including gray scale and color Doppler ultrasound, computed tomography (CT) and magnetic resonance imaging (MRI) was consistent with the diagnosis of aggressive angiomyxoma. The patient underwent surgical operation that ensures total resection of the tumor. Conclusion In the case of extensive pelvic soft tissue mass with characteristic imaging findings, the radiologists should take the diagnosis of aggressive angiomyxoma into consideration.


Author(s):  
Pooja Pathak ◽  
Anand Singh Jalal ◽  
Ritu Rai

Background: Breast cancer represents uncontrolled breast cell growth. Breast cancer is the most diagnosed cancer in women worldwide. Early detection of breast cancer improves the chances of survival and increases treatment options. There are various methods for screening breast cancer such as mammogram, ultrasound, computed tomography, Magnetic Resonance Imaging (MRI). MRI is gaining prominence as an alternative screening tool for early detection and breast cancer diagnosis. Nevertheless, MRI can hardly be examined without the use of a Computer-Aided Diagnosis (CAD) framework, due to the vast amount of data. Objective: This paper aims to cover the approaches used in CAD system for the detection of breast cancer. Method: In this paper, the methods used in CAD systems are categories in two classes: the conventional approach and artificial intelligence (AI) approach. The conventional approach covers the basic steps of image processing such as preprocessing, segmentation, feature extraction and classification. The AI approach covers the various convolutional and deep learning networks used for diagnosis. Conclusion: This review discusses some of the core concepts used in breast cancer and presents a comprehensive review of efforts in the past to address this problem.


2021 ◽  
Vol 16 (1) ◽  
Author(s):  
K. P. Thompson ◽  
◽  
J. Nelson ◽  
H. Kim ◽  
L. Pawlikowska ◽  
...  

Abstract Background Retrospective questionnaire and healthcare administrative data suggest reduced life expectancy in untreated hereditary hemorrhagic telangiectasia (HHT). Prospective data suggests similar mortality, to the general population, in Denmark’s centre-treated HHT patients. However, clinical phenotypes vary widely in HHT, likely affecting mortality. We aimed to measure predictors of mortality among centre-treated HHT patients. HHT patients were recruited at 14 HHT centres of the Brain Vascular Malformation Consortium (BVMC) since 2010 and followed annually. Vital status, organ vascular malformations (VMs) and clinical symptoms data were collected at baseline and during follow-up (N = 1286). We tested whether organ VMs, HHT symptoms and HHT genes were associated with increased mortality using Cox regression analysis, adjusting for patient age, sex, and smoking status. Results 59 deaths occurred over average follow-up time of 3.4 years (max 8.6 years). A history of anemia was associated with increased mortality (HR = 2.93, 95% CI 1.37–6.26, p = 0.006), as were gastro-intestinal (GI) bleeding (HR = 2.63, 95% CI 1.46–4.74, p = 0.001), and symptomatic liver VMs (HR = 2.10, 95% CI 1.15–3.84, p = 0.015). Brain VMs and pulmonary arteriovenous malformations (AVMs) were not associated with mortality (p > 0.05). Patients with SMAD4 mutation had significantly higher mortality (HR = 18.36, 95% CI 5.60–60.20, p < 0.001) compared to patients with ACVRL1 or ENG mutation, but this estimate is imprecise given the rarity of SMAD4 patients (n = 33, 4 deaths). Conclusions Chronic GI bleeding, anemia and symptomatic liver VMs are associated with increased mortality in HHT patients, independent of age, and in keeping with the limited treatment options for these aspects of HHT. Conversely, mortality does not appear to be associated with pulmonary AVMs or brain VMs, for which patients are routinely screened and treated preventatively at HHT Centres. This demonstrates the need for development of new therapies to treat chronic anemia, GI bleeding, and symptomatic liver VMs in order to reduce mortality among HHT patients.


2017 ◽  
Vol 50 (2) ◽  
pp. 115-125 ◽  
Author(s):  
Miguel Ramalho ◽  
António P. Matos ◽  
Mamdoh AlObaidy ◽  
Fernanda Velloni ◽  
Ersan Altun ◽  
...  

Abstract In the second part of this review, we will describe the ancillary imaging features of hepatocellular carcinoma (HCC) that can be seen on standard magnetic resonance imaging (MRI) protocol, and on novel and emerging protocols such as diffusion weighted imaging and utilization of hepatocyte-specific/hepatobiliary contrast agent. We will also describe the morphologic sub-types of HCC, and give a simplified non-invasive diagnostic algorithm for HCC, followed by a brief description of the liver imaging reporting and data system (LI-RADS), and MRI assessment of tumor response following locoregional therapy.


2002 ◽  
Vol 36 ◽  
pp. 162
Author(s):  
Paolo Buonamico ◽  
Anna Cirulli ◽  
Giulia Vitariello ◽  
Amato Antonio Stabile Ianora ◽  
Giuseppe Angelelli ◽  
...  

1994 ◽  
Vol 163 (5) ◽  
pp. 1105-1110 ◽  
Author(s):  
E Buscarini ◽  
L Buscarini ◽  
G Civardi ◽  
S Arruzzoli ◽  
G Bossalini ◽  
...  

2017 ◽  
Vol 78 (01) ◽  
pp. e5-e8
Author(s):  
Kim-Long Nguyen ◽  
Hyunyoung Kim ◽  
Laszlo Nagy

AbstractIsolated spontaneous midbrain hemorrhages are rare because they are usually secondary to hemorrhages from inferior structures such as the pons and cerebellum, or superior structures such as the thalamus and putamen. While the etiologies are largely unidentified, the most common ones are vascular malformations and bleeding diathesis with hypertension being relatively uncommon. We report midbrain hemorrhage in a 14-year-old boy with a long-standing history of frequent migraine headaches and attention deficit/hyperactivity disorder (ADHD). Neurologic examinations, noncontrast computed tomography (CT) scans, and magnetic resonance imaging (MRI) suggested that the lesion likely affected the dorsal part of the midbrain. The neurologic symptoms improved following endoscopic third ventriculostomy (ETV) with the placement of external ventricular drains (EVDs). In this report, anatomical correlations to the case are discussed and previous reports of midbrain hemorrhages are reviewed.


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