Alpha-1 antitrypsin deficiency

Overview

Low alpha-1 protein lets lung tissue break down, causing emphysema, often before age 50.

Smoking makes it much worse.

Symptoms

Common signs:

• Shortness of breath

Less common

• Liver problems
• Wheezing
• Frequent chest infections

Look up a symptom: Getting winded easily with activity or stairs · Yellow skin or eyes

When to get medical care

Causes

Genes.

Does it spread or run in families?

• It isn't contagious. You can't catch it from someone else.
• It can run in families. Tell your doctor if a parent, brother, or sister has it.

Who is more likely to get it

• Family history

Diagnosis

A clinician asks about your symptoms and may order tests.

The exam

A physical exam.

Tests

Tests, if needed:

• AAT level:

Treatment

Treatment depends on the cause and how severe it is.

Self-care

• Don't smoke
• Vaccines
• Get yearly lung tests

Prevention

To lower your risk or prevent problems:

• Don't smoke

Which doctor treats this

• Start with your primary care provider (family doctor or internist).
• They may send you to a pulmonologist (lung doctor).

Living with it

Support groups and helplines

• American Lung Association: Lung HelpLine 1-800-586-4872 and Better Breathers support groups.
• Genetic and Rare Diseases Information Center (GARD): Free NIH information on rare diseases, including where to find experts and patient groups.
• National Organization for Rare Disorders (NORD): Patient groups, help finding care, and aid programs for rare diseases.

Children, pregnancy, and older adults

• Families: Testing helps relatives.
• People with early COPD: Testing helps.

Pregnancy and breastfeeding

• If you're pregnant or planning to be, tell your prenatal provider about this condition.
• Don't start or stop any medicine on your own. Some are safe in pregnancy and some need to be changed.
• Ask before taking any pain reliever. The FDA advises avoiding ibuprofen and naproxen after 20 weeks unless your doctor says to.
• Breastfeeding: Most medicines are fine, but ask. The NIH LactMed database lists what's known about each one.

Outlook

Not smoking makes a big difference.

Not smoking greatly helps.

Getting ready for your visit

Bring a list of your symptoms and medicines.

What to bring

• A list of your medicines and supplements
• Notes on when symptoms started and what makes them better or worse

Questions to ask

• What's causing this?
• What treatment do you recommend?
• Should my family be tested?

Research studies

Research studies test new ways to find and treat health problems. Some are looking for volunteers. Talk with your doctor before joining one.

Search ClinicalTrials.gov for studies on Alpha-1 antitrypsin deficiency