← All diseases

Disease Atlas / Disease detail

Alpha-1 antitrypsin deficiency

An atlas of SERPINA1-related loss of lung protection, hepatic protein accumulation, combined testing, and organ-specific care.

alpha-1 antitrypsin deficiency · AATD

MONDO:0013282Public QA completeSource-bound · 4

Disease at a glance

Start with the essentials, then explore the patient and research views.

Public revision · 33e1a5d02989

Disease class
AATD is an inherited lung and liver disorder.
Core mechanism
SERPINA1 variants and codominant inheritance are involved.
Genes or cause
Low AAT reduces protection of lung elastin.
Typical features
Abnormal protein accumulation can cause liver disease.
Variability
Emphysema, COPD, and bronchiectasis can occur.
Diagnosis
Liver disease can occur from infancy through adulthood.
Management
Serum level, genotype, and phenotype are tested together.
Treatment and research
AAT levels can rise during inflammation.
Reading evidence
Smoking cessation and exposure avoidance are central.
Key caution
COPD care and vaccination follow standards.

For patients and families

A structured guide for understanding the disease and preparing for clinical conversations.

At a glance

AATD is an inherited lung and liver disorder.

Abnormal protein accumulation can cause liver disease.

How the disease works

SERPINA1 variants and codominant inheritance are involved.

Low AAT reduces protection of lung elastin.

Why experiences vary

Emphysema, COPD, and bronchiectasis can occur.

Diagnosis and management

Liver disease can occur from infancy through adulthood.

Treatment status

Serum level, genotype, and phenotype are tested together.

AAT levels can rise during inflammation.

Reading clinical trials

Lung and liver function and liver-cancer risk are monitored.

Topics for a clinical visit

Genotype, smoking, lung, and liver status require review.

Medical notice

This material is for disease education and is not a personal diagnosis or treatment instruction.

Evidence and sources

A trial registry status does not establish efficacy or regulatory approval.