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Alpha 1 Antitrypsin: Function, Deficiency & Treatment

Alpha 1 antitrypsin is a protective protein produced by the liver that shields lung tissue from harmful enzymes. A deficiency can lead to serious lung and liver disease.

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Things worth knowing about "Alpha 1 Antitrypsin"

Alpha 1 antitrypsin is a protective protein produced by the liver that shields lung tissue from harmful enzymes. A deficiency can lead to serious lung and liver disease.

What is Alpha 1 Antitrypsin?

Alpha 1 antitrypsin (A1AT) is a protein primarily produced in the liver and released into the bloodstream. It belongs to a group of proteins called protease inhibitors and plays a critical role in protecting lung tissue from destructive enzymes, most notably neutrophil elastase. This enzyme is released by immune cells during inflammation and, if left unchecked, can break down the delicate tissue of the lungs.

Causes of Alpha-1-Antitrypsin Deficiency

Alpha-1-antitrypsin deficiency (AATD) is an underdiagnosed hereditary condition that follows an autosomal codominant inheritance pattern. Affected individuals either produce too little A1AT or a misfolded, dysfunctional form of the protein.

Genetic mutation: The most common disease-causing variant is the Z mutation (PiZZ genotype). Individuals with two defective gene copies have severe deficiency.
Liver accumulation: The misfolded A1AT protein can accumulate in liver cells rather than being secreted into the blood, causing progressive liver damage.
Smoking as an amplifier: Cigarette smoking dramatically accelerates lung damage by further reducing the activity of the already limited A1AT.

Symptoms

Symptoms of A1AT deficiency primarily affect the lungs and liver and can vary depending on the severity of the deficiency and the age of the individual.

Lung Symptoms

Chronic cough with mucus production
Shortness of breath, especially during physical activity
Wheezing
Development of pulmonary emphysema at an unusually young age (often between 30 and 50 years)
Increased susceptibility to chronic obstructive pulmonary disease (COPD)

Liver Symptoms

Elevated liver enzymes (transaminases)
Liver fibrosis or cirrhosis
Jaundice (icterus), particularly in newborns
In advanced stages: increased risk of liver cancer (hepatocellular carcinoma)

Diagnosis

Diagnosis involves a combination of laboratory tests and genetic analysis.

Serum protein electrophoresis: A reduced alpha-1 band may provide the first indication of A1AT deficiency.
A1AT serum level measurement: Direct measurement of A1AT concentration in the blood. Normal values range between 0.9 and 2.0 g/l.
Genotyping: Identification of the specific gene mutation (e.g., PiZZ, PiSZ) for precise classification of the deficiency.
Pulmonary function tests (spirometry): Assessment of lung function and the degree of obstructive ventilation impairment.
Imaging (CT scan): Detection of emphysema, particularly in the lower lung fields, which is characteristic of AATD.

Treatment

There is currently no cure for the underlying genetic defect. Treatment focuses on protecting the affected organs and slowing the progression of the disease.

Augmentation Therapy

The most specific treatment available is intravenous augmentation therapy, in which purified A1AT derived from human donor plasma is administered regularly to raise serum levels and protect lung tissue. This therapy is indicated in patients with confirmed AATD and established emphysema.

General Measures

Smoking cessation: The single most important intervention to slow lung deterioration.
Bronchodilators and inhaled corticosteroids: To manage COPD symptoms.
Lung transplantation: An option in cases of severe end-stage emphysema.
Liver transplantation: Considered in cases of terminal liver failure caused by A1AT accumulation.
Vaccinations: Against influenza, pneumococcal disease, and hepatitis A/B to protect the lungs and liver.

References

American Thoracic Society / European Respiratory Society. - Alpha-1 Antitrypsin Deficiency: Diagnosis and Management. Am J Respir Crit Care Med. 2003; 168(7): 818-900.
Stoller J.K., Aboussouan L.S. - Alpha1-antitrypsin deficiency. Lancet. 2005; 365(9478): 2225-2236. PubMed PMID: 15978931.
World Health Organization (WHO). - Alpha 1-antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Organ. 1997; 75(5): 397-415.

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