European Alpha-1 Antitrypsin Deficiency Day

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European Alpha-1 Antitrypsin Deficiency Day

On April 25, 2026, we celebrated European Alpha-1 Antitrypsin Deficiency (AATD) Awareness Day.

The aim of this Awareness Day is to raise awareness about this genetic condition in order to increase detection and diagnosis rates, and ultimately, improve access to treatment for those affected.

KNOW YOUR GENETICS

DISCOVER THE RISKS TO YOUR HEALTH

Alpha-1 Antitrypsin Deficiency is a genetic disease that can cause lung, liver, and skin diseases.

HEALTH PROBLEMS,
SOMETIMES YOU CAN’T SEE OR FEEL THEM

Alpha-1 Antitrypsin (AAT) is a protein that protects our organs from external agents.

Hereditary mutations result in an abnormal AAT protein.

  • This protein accumulates in the liver and can cause organ damage.
  • Consequently, if the level of AAT in the blood is low, the lungs are left unprotected against infections or irritants, and lung problems can develop.

RECOGNIZE THE SIGNS

European Alpha-1 Antitrypsin Deficiency Day

Alpha-1 antitrypsin deficiency (AATD) can cause a variety of symptoms that may begin at a young age or in adulthood (between 20 and 50 years old).

BABIES AND CHILDREN

LIVER-RELATED SYMPTOMS
  • Jaundice (yellowing of the skin and/or eyes)
  • Abdominal pain and/or swelling (infants)
  • Failure to thrive or lack of normal weight gain (infants)
  • Diarrhea (infants)

ADULTOS: SÍNTOMAS RELACIONADOS

LUNGS

  • Difficulty breathing
  • Wheezing
  • Chronic bronchitis
  • Recurrent colds
  • Bronchiectasis

LIVER

  • Jaundice: yellowing of the skin and/or eyes.
  • Pain and/or swelling in the abdomen and/or legs.
  • Persistent itching. Feelings of weakness and fatigue.

SKIN

  • Nódulos rojos, dolorosos y elevados en la piel en piernas, brazos, tronco o cara.
  • Los nódulos pueden ulcerarse, sangrar y supurar una sustancia aceitosa.

Red, painful, raised nodules on the skin of the legs, arms, torso, or face.

The nodules may ulcerate, bleed, and ooze an oily substance.

European Alpha-1 Antitrypsin Deficiency Day

  1. It is important that all people with alpha-1 antitrypsin deficiency undergo testing for liver disease.
  2. After alpha-1 antitrypsin deficiency (AATD), it is important to be tested for lung disease as soon as possible.
  3. A healthy lifestyle, treatment, and symptom management can help prevent lung disease from worsening.
  4. Panniculitis is a rare skin condition; treatment can help manage it.

THE HIDDEN LINK BEHIND UNEXPLAINED SYMPTOMS

9 out of 10 people with AATD don’t know they have it:
The key is diagnosis.

Many people are unaware that they may be living with an undiagnosed inherited condition.

Diagnosis is key to:

  • Access to treatments.
  • Following care plans and lifestyle changes.
  • Ultimately, slowing the progression of the disease and improving quality of life.
  • It can also give your children the knowledge they need to act in time.
  • And with that, potentially preventing symptoms before they appear.

DISCOVER IF IT’S PART OF YOUR STORY

Don’t miss the opportunity to find out if something makes you vulnerable; all it takes is a blood test to measure your AAT levels.

If your AAT levels are low, a genetic test can confirm the diagnosis by identifying the specific genetic variants involved and determining the severity of the deficiency. Understanding your genetic makeup is the first step in protecting your health.

We remind you of the importance of getting tested.

  • In particular, all patients with liver disease of unknown origin and those who suffer from frequent respiratory infections should be tested.
  • Likewise, people with a family history of alpha-1 antitrypsin deficiency, those with COPD, bronchiectasis, or irreversible asthma should also be screened.

Don’t wait until your symptoms get worse! Get tested now!

NEXT STEP

After the diagnosis, you should contact a specialized center of excellence or a specialist doctor.

JOIN US TO MAKE A DIFFERENCE

Every year on April 25, the Alpha-1 community across Europe comes together to raise awareness, give a voice to patients through their own stories, and highlight the challenges faced by people with alpha-1 antitrypsin deficiency (AATD) and their families.

Together, we can build a future where no one with AATD is left behind.

There are many treatments and therapies you may be entitled to that can improve your quality of life.

Contact your national patient organization: Alpha 1 Spain

Source: REDAAT

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