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Updated: Aug 21, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

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Published on: June 9, 2018

[Alpha-1 antitrypsin deficiency].

Marco Marando¹, Caroline Rayroux¹, Anne Bergeron¹

¹Service de pneumologie, Département de médecine, Hôpitaux universitaires de Genève, 1211 Genève 14.

Revue Medicale Suisse

|November 16, 2022

Summary

This summary is machine-generated.

Alpha-1 antitrypsin deficiency (A1ATD) is a genetic disorder impacting the lungs and liver. Despite defined diagnostics, A1ATD remains underdiagnosed, but A1AT augmentation therapy can slow lung emphysema progression.

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Area of Science:

Genetics and Molecular Biology
Pulmonology
Hepatology

Context:

Alpha-1 antitrypsin deficiency (A1ATD) is a rare autosomal recessive genetic disorder.
Caused by mutations in the Serpina1 gene, affecting alpha-1 antitrypsin (A1AT) function.
A1AT is crucial for maintaining homeostasis during inflammation.

Purpose:

To highlight the clinical manifestations and diagnostic challenges of A1ATD.
To emphasize the underdiagnosis of A1ATD despite established screening protocols.
To discuss current treatment strategies for severe deficiency and lung involvement.

Summary:

A1ATD primarily affects carriers of the Z allele, leading to emphysema and chronic liver disease.
The condition is significantly underdiagnosed even with available screening.
Treatment involves A1AT augmentation therapy to slow pulmonary emphysema progression.

Impact:

Increased awareness of A1ATD can improve diagnostic rates.
Timely diagnosis and treatment can mitigate severe pulmonary and hepatic complications.
A1AT augmentation therapy offers a therapeutic option for managing lung manifestations.