Alpha-1 Deficiency: Hidden Lung Disease
Alpha-1 Antitrypsin Deficiency: A Hidden Genetic Condition Affecting Lung Health
This story features a real patient sharing their personal experience in their own words. Individual experiences may vary. This information is available to the general public for disease awareness only; it should not be used for diagnosing or treating a disease. Please consult your health care provider for advice.
This story is prepared by Takeda and Frank received compensation from Takeda for his participation.
What is Alpha-1?
Alpha-1 Antitrypsin Deficiency (AATD), or Alpha-1, is a rare genetic disorder that can impact both the liver and lungs, often without a clear diagnosis for years.
Too often, symptoms are blamed on asthma, or COPD, leading to missed chances for early intervention. For many patients, symptoms are subtle or mistaken for more common conditions, leading to delayed treatment and avoidable complications.
Frank’s Story: Diagnosed Early, Advocating for Awareness
After a routine test revealed the absence of alpha globulins in his bloodstream, Frank was diagnosed with Alpha-1 Antitrypsin Deficiency (AATD), carrying the Pi*ZZ genotype, the most severe form of the disease. Today, Frank advocates for greater awareness and education, emphasizing the importance of genetic testing, early diagnosis, and a holistic approach to care.
Watch Frank’s Story
Why Alpha-1 Is Often Missed
Because Alpha-1 symptoms overlap with more common conditions, it is frequently misdiagnosed. Lung-related symptoms may be mistaken for:
- COPD
- Asthma
- Chronic bronchitis
- Emphysema
- Bronchiectasis
In rare cases, Alpha-1 can also present with panniculitis, a painful skin condition that may be misdiagnosed as a dermatologic issue.
Raising Awareness, Improving Outcomes
Frank’s story serves as a powerful reminder of the need for increased disease awareness, genetic testing, and proactive care. At Takeda, we’re committed to supporting patients and healthcare professionals in recognizing and managing rare diseases like Alpha-1.