Assessment of liver fibrosis by transient elastography (Fibroscan®) in patients with A1AT deficiency

Guillaud, Olivier; Dumortier, Jérôme; Traclet, Julie; Restier, Lioara; Joly, Philippe; Chapuis‐Cellier, Colette; Lachaux, Alain; Mornex, J. F.

doi:10.1016/j.clinre.2018.08.016

Cited by 21 publications

(14 citation statements)

References 30 publications

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“…Research involving non-invasive markers of disease to monitor A1ATD is limited, but Guillard et al discuss the use of Fibroscans for the monitoring of liver pathology in A1ATD. 16 While our focus was on concordance between APRI, FIB-4 scores and Fibroscan results, Guillard presents a case for the use of Fibroscans for screening, further reinforced by the finding that 2 of 2 patients with abnormal liver function tests (LFTs) also had abnormal Fibroscan results, but 3 of 29 patients without abnormal Figure 1 Scatter plot of FIB-4 score against Fibroscan. Vertical line denotes the cut-off of 6 kPa used on Fibroscan to recommend liver biopsy.…”

Section: Discussionmentioning

confidence: 96%

Non-invasive testing for liver pathology in alpha-1 antitrypsin deficiency

et al. 2020

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BackgroundMany patients with alpha-1 antitrypsin deficiency (A1ATD) receive care in respiratory clinics without access to specialist hepatology expertise. Liver disease can develop asymptomatically, and non-invasive markers of fibrosis may help identify patients who require definitive assessment with liver biopsy. We evaluated the utility of non-invasive markers of liver fibrosis in A1ATD to guide testing in settings without ready access to hepatology expertise.MethodsPatients attending the London A1ATD service undergo assessment using blood tests to calculate the ‘APRI’ and ‘FIB-4’ score, liver ultrasound and Fibroscan. Liver biopsy is offered to patients who have abnormal liver function tests with abnormal liver ultrasound and/or liver stiffness >6 kPa on Fibroscan. Liver biopsies were assessed for the presence of A1AT, steatosis, fibrosis and inflammation.Results75 patients with A1ATD had results for analysis, 56% were female, age 16–82 years. 75% of patients had Fibroscan <6 kPa, 19% had Fibroscan 6–7.9 kPa and 6%>8 kPa. There was a significant correlation between FIB-4 and Fibroscan (r=0.244, p=0.035). Fibroscan >6 kPa corresponded to a FIB-4 score of >1.26. However, FIB-4 >1.26 had poor sensitivity (47%), specificity (32%) and positive-predictive value (PPV; 36%) to identify Fibroscan >6 kPa. The negative-predictive value (NPV) was stronger at 81%. APRI data were similar. Twelve patients underwent liver biopsy, with 11 reports available for analysis. Six had FIB-4 scores<1.26 and five had Fibroscan of <6 kPa. A1AT was present in 64% of biopsies, steatosis in 82%, mild fibrosis in 36%, moderate fibrosis in 9% and severe fibrosis in 9%.ConclusionA combination of liver ultrasound and non-invasive fibrosis tests can help identify patients with A1ATD liver injury. However, APRI and FIB-4 scores alone had poor sensitivity and specificity to justify use as an independent tool for liver pathology in A1ATD.

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Section: Discussionmentioning

confidence: 96%

Non-invasive testing for liver pathology in alpha-1 antitrypsin deficiency

et al. 2020

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“… 19 , 40 FibroScan can give an estimation of liver fibrosis staging from blood fibrosis test results without the need for liver biopsy, 40 and has been validated in AATD patients, with the proportion of invalid scans in children decreasing with age. 41 , 42 Blood tests may also be performed for markers of liver injury, for example, reduced thrombopoietin, or more specific parameters may be assessed using HepaScore and FibroTest. If blood test and elastography results are discordant, liver biopsy may be considered.…”

Section: Monitoring and Management Of Liver Disease In Aatdmentioning

confidence: 99%

Liver disease with unknown etiology – have you ruled out alpha-1 antitrypsin deficiency?

Patel

Teckman

2021

Therapeutic Advances in Chronic Disease

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Although a less well-known consequence of alpha-1 antitrypsin deficiency (AATD) liver disease is the second leading cause of death among patients with the condition. The alpha-1 antitrypsin (AAT) protein is produced by hepatocytes within the liver, which retain pathological variants of AAT instead of secreting the proteinase inhibitor into the systemic circulation. This intracellular retention is caused by inefficient folding and polymerization of mutant AAT and the accumulation of these AAT aggregates leads to diverse manifestations of liver disease, which can present differently in both children and adults. The progression from hepatocyte apoptosis to liver inflammation, fibrosis and cirrhosis, and liver failure is still not fully understood, but in older patients, liver disease can surpass lung disease as the principal cause of death. Liver function tests (LFTs) can measure plasma levels of liver enzymes to assess liver function but require careful interpretation. Non-invasive tests are being developed that can detect early liver disease, but liver biopsy is still the gold standard for assessing liver fibrosis once abnormal LFTs have been detected in a patient. Currently, there is no licensed treatment for AATD-related liver disease (intravenous AAT therapy is not indicated for this purpose), but liver transplantation is associated with positive outcomes and may even slow emphysema progression. Therefore, new strategies are being developed to address treatment of AATD-related liver disease, such as accelerating degradation of mutant AAT and assisting hepatocytes in the folding and secretion of mutant AAT, but these approaches remain at early stages of development.

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“…The diagnosis of AATD in patients with obstructive lung disease allows consideration of specific treatment or clinical trials of specific treatment (see section Diagnosis of AATD ). Screening for liver disease helps to identify patients at higher risk of developing liver complications who may benefit from closer surveillance . Data from neonatal screening studies suggest that awareness of the deficiency reduces smoking behaviour in patients with identified AATD; however, screening increases parental stress and can have a negative impact on parent–child relationships …”

Section: Diagnosis Of Aatdmentioning

confidence: 99%

“…Transient tissue liver elastography, magnetic resonance elastography and ultrasound elastography are increasingly used for non‐invasive assessment of liver fibrosis. These modalities have been shown to have similar accuracy compared to others in screening for the presence of significant liver fibrosis in AATD and to identify patients at higher risk of developing liver complications who may benefit from closer surveillance . In patients with AATD and established cirrhosis, six‐monthly targeted testing for hepatocellular carcinoma with ultrasound examination of the liver together with serum alpha fetoprotein has been recommended …”

Section: Management Of Aatd (Other Than Augmentation Therapy and Surgmentioning

confidence: 99%

“…Screening for liver disease helps to identify patients at higher risk of developing liver complications who may benefit from closer surveillance. 47,48 Data from neonatal screening studies suggest that awareness of the deficiency reduces smoking behaviour in patients with identified AATD; however, screening increases parental stress and can have a negative impact on parent-child relationships. 49 How do we make the diagnosis of AATD?…”

Section: Has Screening For Aatd In Patients At Risk Shown To Improve mentioning

confidence: 99%

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Diagnosis and treatment of lung disease associated with alpha one‐antitrypsin deficiency: A position statement from the Thoracic Society of Australia and New Zealand*

et al. 2020

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AATD is a common inherited disorder associated with an increased risk of developing pulmonary emphysema and liver disease. Many people with AATD‐associated pulmonary emphysema remain undiagnosed and therefore without access to care and counselling specific to the disease. AAT augmentation therapy is available and consists of i.v. infusions of exogenous AAT protein harvested from pooled blood products. Its clinical efficacy has been the subject of some debate and the use of AAT augmentation therapy was recently permitted by regulators in Australia and New Zealand, although treatment is not presently subsidized by the government in either country. The purpose of this position statement is to review the evidence for diagnosis and treatment of AATD‐related lung disease with reference to the Australian and New Zealand population. The clinical efficacy and adverse events of AAT augmentation therapy were evaluated by a systematic review, and the GRADE process was employed to move from evidence to recommendation. Other sections address the wide range of issues to be considered in the care of the individual with AATD‐related lung disease: when and how to test for AATD, changing diagnostic techniques, monitoring of progression, disease in heterozygous AATD and pharmacological and non‐pharmacological therapy including surgical options for severe disease. Consideration is also given to broader issues in AATD that respiratory healthcare staff may encounter: genetic counselling, patient support groups, monitoring for liver disease and the need to establish national registries for people with AATD in Australia and New Zealand.

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Assessment of liver fibrosis by transient elastography (Fibroscan®) in patients with A1AT deficiency

Cited by 21 publications

References 30 publications

Non-invasive testing for liver pathology in alpha-1 antitrypsin deficiency

Non-invasive testing for liver pathology in alpha-1 antitrypsin deficiency

Liver disease with unknown etiology – have you ruled out alpha-1 antitrypsin deficiency?

Diagnosis and treatment of lung disease associated with alpha one‐antitrypsin deficiency: A position statement from the Thoracic Society of Australia and New Zealand*

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