scholarly journals An Update on Laboratory Diagnosis of Liver Inherited Diseases

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Federica Zarrilli ◽  
Ausilia Elce ◽  
Manuela Scorza ◽  
Sonia Giordano ◽  
Felice Amato ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Hereditary Hemochromatosis ◽  
Genetic Defect ◽  
Laboratory Diagnosis ◽  
Liver Involvement ◽  
Delay In Diagnosis ◽  
Inherited Diseases ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin

Liver inherited diseases are a group of genetically determined clinical entities that appear with an early chronic liver involvement. They include Wilson’s disease (hepatolenticular degeneration), hereditary hemochromatosis, and alpha-1-antitrypsin deficiency. In addition, cystic fibrosis, although it is not specifically a liver disease, may cause a severe liver involvement in a significant percentage of cases. For all these pathologies, the disease gene is known, and molecular analysis may contribute to the unequivocal diagnosis. This approach could avoid the patient invasive procedures and limit complications associated with a delay in diagnosis. We review liver inherited diseases on the basis of the genetic defect, focusing on the contribution of molecular analysis in the multistep diagnostic workup.

scholarly journals Cardiac Failure after Liver Transplantation Requiring a Biventricular Assist Device

2014 ◽  
Vol 2014 ◽  
pp. 1-4
Author(s):  
Rita Jermyn ◽  
Eiei Soe ◽  
David D’Alessandro ◽  
Julia Shin ◽  
William Jakobleff ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Postoperative Complications ◽  
Liver Transplant ◽  
Hereditary Hemochromatosis ◽  
Iron Deposition ◽  
Circulatory Support ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin ◽  
Long Term Prognosis

Increased hepatic iron load in extrahepatic organs of cirrhotic patients with and without hereditary hemochromatosis portends a poorer long term prognosis after liver transplant. Hepatic as well as nonhepatic iron overload is associated with increased infectious and postoperative complications, including cardiac dysfunction. In this case report, we describe a cirrhotic patient with alpha 1 antitrypsin deficiency and nonhereditary hemochromatosis (non-HFE) that developed cardiogenic shock requiring mechanical circulatory support for twenty days after liver transplant. Upon further investigation, she was found to have significant iron deposition in both the liver and heart biopsies. Her heart regained complete and sustained recovery following ten days of mechanical biventricular support. This case highlights the importance of preoperatively recognizing extrahepatic iron deposition in patients referred for liver transplantation irrespective of etiology of liver disease as this may prevent postoperative complications.

Outcome of PiSS and PiSZ alpha-1-antitrypsin deficiency presenting with liver involvement

2005 ◽  
Vol 164 (4) ◽  
pp. 250-252 ◽  
Author(s):  
Nedim Hadzic ◽  
Ruggiero Francavilla ◽  
Susan M. Chambers ◽  
Stefania Castellaneta ◽  
Bernard Portmann ◽  
...  
Keyword(s):  
Liver Involvement ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin

scholarly journals Diagnosing alpha-1 antitrypsin deficiency: the first step in precision medicine

F1000Research ◽  
2017 ◽  
Vol 6 ◽  
pp. 2049 ◽  
Author(s):  
Craig P. Hersh
Keyword(s):  
Precision Medicine ◽  
Granulomatosis With Polyangiitis ◽  
Genetic Diseases ◽  
Augmentation Therapy ◽  
Delay In Diagnosis ◽  
Increased Risk ◽  
Genetic Subtype ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin

Severe alpha-1 antitrypsin (AAT) deficiency is one of the most common serious genetic diseases in adults of European descent. Individuals with AAT deficiency have a greatly increased risk for emphysema and liver disease. Other manifestations include bronchiectasis, necrotizing panniculitis and granulomatosis with polyangiitis. Despite the frequency and potential severity, AAT deficiency remains under-recognized, and there is often a delay in diagnosis. This review will focus on three recent updates that should serve to encourage testing and diagnosis of AAT deficiency: first, the publication of a randomized clinical trial demonstrating the efficacy of intravenous augmentation therapy in slowing the progression of emphysema in AAT deficiency; second, the mounting evidence showing an increased risk of lung disease in heterozygous PI MZ genotype carriers; last, the recent publication of a clinical practice guideline, outlining diagnosis and management. Though it has been recognized for more than fifty years, AAT deficiency exemplifies the modern paradigm of precision medicine, with a diagnostic test that identifies a genetic subtype of a heterogeneous disease, leading to a targeted treatment.

scholarly journals Liver Involvement in Children with Alpha-1 Antitrypsin Deficiency: A Multicenter Study

2020 ◽  
Vol 23 (2) ◽  
pp. 146
Author(s):  
Murat Cakir ◽  
Elif Sag ◽  
Ali Islek ◽  
Masallah Baran ◽  
Gokhan Tumgor ◽  
...  
Keyword(s):  
Multicenter Study ◽  
Liver Involvement ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin
Sign in / Sign up

Export Citation Format

Share Document