C Sabbà1, M Pompili. 1. Unit of Internal Medicine, Department of Internal Medicine and Public Health, Interdepartmental HHT Centre, University of Bari, Bari, Italy. c.sabba@dimimp.uniba.it
Abstract
BACKGROUND: Liver involvement in hereditary haemorrhagic telangiectasia is mainly characterized by vascular malformations, such as telangiectasies and arteriovenous shunts, which are found in up to 80% of patients. AIM: To analyse the current knowledge and controversies regarding the epidemiological, pathological, clinical, diagnostic and therapeutic aspects of liver involvement in hereditary haemorrhagic telangiectasia. Methods Systematic survey analysis of the indexed studies dealing with the above mentioned topics. RESULTS: No more than 8% of patients with hepatic vascular abnormalities will have a symptomatic liver disease, mainly consisting in high-output heart failure, portal hypertension or biliary disease. CONCLUSIONS: Colour Doppler ultrasonography is a non-invasive, highly accurate and relatively low-cost procedure for the screening of liver involvement in patients with hereditary haemorrhagic telangiectasia; computed tomography, magnetic resonance imaging and angiography can be reserved for the characterization of focal lesions and the study of severely ill patients in whom invasive therapeutic procedures are advisable. Patients with asymptomatic liver involvement should not receive any treatment, while the therapeutic options for symptomatic patients include treatment of the specific complication, invasive procedures for shunt reduction and liver transplantation. The newly developed antiangiogenetic therapies appear to be very promising, but still require further evaluation in clinical trials.
BACKGROUND: Liver involvement in hereditary haemorrhagic telangiectasia is mainly characterized by vascular malformations, such as telangiectasies and arteriovenous shunts, which are found in up to 80% of patients. AIM: To analyse the current knowledge and controversies regarding the epidemiological, pathological, clinical, diagnostic and therapeutic aspects of liver involvement in hereditary haemorrhagic telangiectasia. Methods Systematic survey analysis of the indexed studies dealing with the above mentioned topics. RESULTS: No more than 8% of patients with hepatic vascular abnormalities will have a symptomatic liver disease, mainly consisting in high-output heart failure, portal hypertension or biliary disease. CONCLUSIONS: Colour Doppler ultrasonography is a non-invasive, highly accurate and relatively low-cost procedure for the screening of liver involvement in patients with hereditary haemorrhagic telangiectasia; computed tomography, magnetic resonance imaging and angiography can be reserved for the characterization of focal lesions and the study of severely ill patients in whom invasive therapeutic procedures are advisable. Patients with asymptomatic liver involvement should not receive any treatment, while the therapeutic options for symptomatic patients include treatment of the specific complication, invasive procedures for shunt reduction and liver transplantation. The newly developed antiangiogenetic therapies appear to be very promising, but still require further evaluation in clinical trials.
Authors: Murat Cag; Maxime Audet; Anne-Catherine Saouli; Murad Odeh; Bernard Ellero; Tullio Piardi; Marie-Lorraine Woehl-Jaeglé; Jacques Cinqualbre; Philippe Wolf Journal: Hepatol Int Date: 2011-02-17 Impact factor: 6.047
Authors: Lilian B Olsen; Anette D Kjeldsen; Mikael K Poulsen; Jens Kjeldsen; Annette D Fialla Journal: Orphanet J Rare Dis Date: 2020-11-26 Impact factor: 4.123