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

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.

Automated summary

Wilson disease and alpha1-antitrypsin deficiency are rare genetic diseases that primarily affect the liver and/or the brain, and the liver and/or the lung, respectively. Early diagnosis is crucial for timely treatment initiation and family screening. This review focuses on non-invasive diagnostic tests for clinicians, which are essential for reducing diagnostic delay, assessing organ involvement, and monitoring disease progression and treatment efficacy.