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Review
. 2023 Jan 10;13(2):256.
doi: 10.3390/diagnostics13020256.

Wilson Disease and Alpha1-Antitrypsin Deficiency: A Review of Non-Invasive Diagnostic Tests

Olivier Guillaud  1   2   3 , Jérôme Dumortier  1   3   4 , Eduardo Couchonnal-Bedoya  1   5 , Mathias Ruiz  5   6
Affiliations
Review

Wilson Disease and Alpha1-Antitrypsin Deficiency: A Review of Non-Invasive Diagnostic Tests

Olivier Guillaud et al. Diagnostics (Basel). .

Abstract

Wilson disease and alpha1-antitrypsin deficiency are two rare genetic diseases that may impact predominantly the liver and/or the brain, and the liver and/or the lung, respectively. The early diagnosis of these diseases is important in order to initiate a specific treatment, when available, ideally before irreversible organ damage, but also to initiate family screening. This review focuses on the non-invasive diagnostic tests available for clinicians in both diseases. These tests are crucial at diagnosis to reduce the potential diagnostic delay and assess organ involvement. They also play a pivotal role during follow-up to monitor disease progression and evaluate treatment efficacy of current or emerging therapies.

Keywords: Wilson disease; alpha1-antitrypsin deficiency; diagnosis; non-invasive tests.

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Conflict of interest statement

O.G. received personal fees as speaker from Echosens. M.R. received personal fees as consultant from Takeda, Grifols, and as speaker from CSL Behring.

Figures

Figure 1
Figure 1
Algorithm for diagnosis of AAT. Abbreviations: AAT, alpha1-antitrypsin; AATD, alpha1-antitrypsin deficiency; COPD, chronic obstructive pulmonary disease; BD, bronchodilators; US, ultrasound; HCC, hepatocellular carcinoma; CT, computed tomography.
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