Living with Alpha-1-antitrypsin deficiency
An inherited disorder that can cause lung disease and liver disease, with symptoms that vary by person and age.
Understanding Alpha-1-antitrypsin deficiency
Signs and the age they start vary. Lung symptoms usually start between ages 25 and 50. Many people develop emphysema, a lung disease from damage to the small air sacs. Smoking or tobacco smoke makes emphysema symptoms appear sooner. About 10 percent of infants with this condition develop liver disease, which often causes yellowing of the skin and eyes (jaundice).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Shortness of breath after mild activity
- Wheezing
- Emphysema
- Repeated respiratory infections
- Yellowing of the skin and eyes (jaundice)
- Tiredness (fatigue)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists, genetic specialists, kidney specialists and lung and breathing specialists.
- 3Consider genetic testing
Changes in SERPINA1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Alpha-1 Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Kidney specialists (nephrologists); Lung and breathing specialists (pulmonologists)
- Expert care
- Expert lists: Alpha-1 Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Alpha-1 Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the SERPINA1 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: a-1atd; a1ad; a1at deficiency; a1atd; aat deficiency; alpha 1-antitrypsin deficiency
Patient organizations
- Alpha-1 FoundationAlpha-1-antitrypsin deficiency · United States
- Allergy & Asthma Network Mothers of AsthmaticsAlpha-1-antitrypsin deficiency · United States
- American Lung AssociationAlpha-1-antitrypsin deficiency · United States
- COPD FoundationAlpha-1-antitrypsin deficiency · Job Research Foundation
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Alpha-1-antitrypsin deficiency.
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