scholarly journals Longitudinal Outcomes in Young Patients with Alpha-1-Antitrypsin Deficiency with Native Liver Reveal that Neonatal Cholestasis is a Poor Predictor of Future Portal Hypertension

2020 ◽  
Vol 227 ◽  
pp. 81-86.e4
Author(s):  
Jeffrey Teckman ◽  
Philip Rosenthal ◽  
Kieran Hawthorne ◽  
Cathie Spino ◽  
Lee M. Bass ◽  
...  
Keyword(s):  
Portal Hypertension ◽  
Young Patients ◽  
Neonatal Cholestasis ◽  
Longitudinal Outcomes ◽  
Poor Predictor ◽  
Native Liver ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin

First presentation of portal hypertension complicated by hepatopulmonary syndrome

2021 ◽  
Vol 14 (9) ◽  
pp. e244712
Author(s):  
Nahima Miah ◽  
Aidan Ryan ◽  
Ceyhun Aksel Oztumer ◽  
Mohamed Saleh
Keyword(s):  
Portal Hypertension ◽  
Unusual Case ◽  
Oxygen Demand ◽  
Hepatopulmonary Syndrome ◽  
Antitrypsin Deficiency ◽  
Vascular Dilatation ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin ◽  
Made In

Hepatopulmonary syndrome (HPS) is a serious complication of chronic liver disease, characterised by portal hypertension and arterial hypoxaemia due to intrapulmonary vascular dilatation. We report an unusual case in which a 27-year-old man had a first presentation of portal hypertension and cirrhosis complicated by HPS. This patient presented with progressive dyspnoea on exertion and deterioration in mobility, with a type 1 respiratory failure and increased oxygen demand. A bubble echocardiogram showed a possible right-to-left shunt, CT aortogram displayed evidence of portal hypertension and cirrhosis, and liver biopsy findings were consistent with alpha-1 antitrypsin deficiency. The patient’s increased oxygen demand was subsequently treated with continuous positive airway pressure before he was discharged with 8 L home oxygen. With no current established medical therapy for HPS, the patient was assessed for liver transplantation and a decision was made in favour of this.

scholarly journals Diagnosis of alpha-1-antitrypsin deficiency by DNA analysis of children with liver disease

2001 ◽  
Vol 38 (1) ◽  
pp. 63-68 ◽  
Author(s):  
Adriana Maria Alves De TOMMASO ◽  
Cláudio Lúcio ROSSI ◽  
Cecília Amélia Fazzio ESCANHOELA ◽  
Heliane Guerra SERRA ◽  
Carmen Sílvia BERTUZZO ◽  
...  
Keyword(s):  
Liver Disease ◽  
Chronic Liver Disease ◽  
Dna Analysis ◽  
Hepatic Disease ◽  
Chronic Liver ◽  
Neonatal Cholestasis ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin ◽  
S Allele

Background - Alpha-1-antitrypsin deficiency is a genetic disorder which is transmitted in a co-dominant, autosomal form. Alpha-1-antitrypsin deficiency affects mainly the lungs and the liver leading, in the latter case, to neonatal cholestasis, chronic hepatitis or cirrhosis. A precise diagnosis of Alpha-1-antitrypsin deficiency may be obtained by biochemical or molecular analysis. Objective - The purpose of this study was to use DNA analysis to examine the presence of an alpha-1-antitrypsin deficiency in 12 children suspected of having this deficiency and who showed laboratory and clinical characteristics of the disease. Patients and Methods - Twelve patients, aged 3 months to 19 years, who had serum alpha-1-antitrypsin levels lower than normal and/or had hepatic disease of undefined etiology were studied. The mutant alleles S and Z of the alpha-1-antitrypsin gene were investigated in the 12 children. Alpha-1-antitrypsin gene organization was analyzed by amplification of genoma through the polymerase chain reaction and digestion with the restriction enzymes Xmnl (S allele) and Taq 1 (Z allele). Results - Seven of the 12 patients had chronic liver disease of undefined etiology and the other five patients had low serum levels of alpha-1-antitrypsin as well as a diagnosis of neonatal cholestasis and/or chronic liver disease of undefined etiology. Five of the 12 patients were homozygous for the Z allele (ZZ) and two had the S allele with another allele (*S) different from Z. Conclusion - These results show that alpha-1-antitrypsin deficiency is relatively frequent in children with chronic hepatic disease of undefined etiology and/or low alpha-1-antitrypsin levels (41.6%). A correct diagnosis is important for effective clinical follow-up and for genetic counseling.

scholarly journals Alpha-1 antitrypsin deficiency in the elderly: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Anna Annunziata ◽  
Maurizia Lanza ◽  
Antonietta Coppola ◽  
Giuseppe Fiorentino
Keyword(s):  
Chronic Obstructive Pulmonary Disease ◽  
Pulmonary Disease ◽  
Clinical Symptoms ◽  
Young Patients ◽  
Functional Improvement ◽  
Chronic Obstructive ◽  
Obstructive Pulmonary Disease ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin

Abstract Background Generally, alpha-1 antitrypsin deficiency (AATD) is suspected in young patients with pulmonary emphysema or chronic obstructive pulmonary disease (COPD). Patients often suffer from diagnostic gaps and are misdiagnosed with chronic obstructive pulmonary disease (COPD), asthma, and airway hyperresponsiveness (AHR), as AATD may present with nonspecific respiratory symptoms. It is never too late to suspect AATD, especially in a patient with an unusual medical history. In recent years, evidence is beginning to emerge that there may be value in identifying and treating patients who do not already have deterioration of functional parameters. Case presentation We describe a case of a 69-year-old Caucasian female patient, late diagnosis of AATD, with both severe bronchial hyperreactivity and numerous exacerbations due to the peculiar clinical history and the presence of a rare mutation; although not presenting forced expiratory volume in 1 second (FEV1) between 30 and 65%, the patient was treated with alpha-1 antitrypsin (AAT) augmentation therapy and achieved clinical and functional improvement. Conclusion AATD should always be suspected. The Alpha-1 Foundation recommendations for the diagnosis and management of AATD in adult patients indicate that treatment should be provided for patients with FEV1 between 30 and 65%. It may be useful to evaluate and treat patients based on clinical symptoms, even outside the established parameters, in particular cases.

Low incidence of alpha 1 antitrypsin deficiency in Iranian patients with neonatal cholestasis

2015 ◽  
Vol 26 (3) ◽  
pp. 251-253 ◽  
Author(s):  
Farzaneh Motamed ◽  
Sanaz Mehrabani ◽  
Maryam Monajemzadeh ◽  
Mohammad Taghi Haghi Ashtiani ◽  
Sima Hosseinverdi ◽  
...  
Keyword(s):  
Neonatal Cholestasis ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Low Incidence ◽  
Alpha 1 Antitrypsin ◽  
Iranian Patients

scholarly journals Successful Outcome and Biliary Drainage in an Infant with Concurrent Alpha-1-Antitrypsin Deficiency and Biliary Atresia

2017 ◽  
Vol 2017 ◽  
pp. 1-5
Author(s):  
Andrew W. Wang ◽  
Kimberly Newton ◽  
Karen Kling
Keyword(s):  
Liver Function ◽  
Biliary Atresia ◽  
Successful Outcome ◽  
Dual Pathology ◽  
Native Liver ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin ◽  
Prompt Diagnosis ◽  
Rare Instance

We describe the rare instance of concomitant biliary atresia and alpha-1-antitrypsin deficiency and the first documented successful portoenterostomy in this scenario. The potential for dual pathology must be recognized and underscores that prompt diagnosis of biliary atresia, despite concomitant alpha-1-antitrypsin deficiency, is essential to afford potential longstanding native liver function.

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