Overview
Alpha-1 antitrypsin deficiency is a genetic disorder that can lead to lung and liver disease; it involves a deficiency of a protein that protects the lungs from damage.
Prevalence and Incidence
- Worldwide & UK: Affects approximately 1 in 2,500 to 1 in 5,000 individuals of European descent, though many cases remain undiagnosed.
Symptoms and Signs
- Shortness of breath
- Wheezing
- Chronic cough
- Liver function abnormalities
Age Group Affected
Symptoms can appear at any age, though lung symptoms commonly appear in adults aged 20-50.
Grading/Severity
Varies from asymptomatic to severe deficiencies impacting lung and liver function.
When to See a Pulmonologist
Seek consultation with Dr. Syed Hassan if you have a family history of the condition or exhibit symptoms suggestive of lung or liver disease.
Diagnosis and Management
Diagnosed through blood tests and genetic testing. Management includes lifestyle changes, medications, augmentation therapy, and close monitoring of organ function.
Support and Resources
Alpha-1 UK Support Group offers guidance and resources for affected individuals.