Diagnosis | Alpha-1-antitrypsin deficiency


The diagnosis of alpha-1-antitrypsin deficiency is based on a blood sample and laboratory tests. The blood of the patient is examined for its individual components (here especially for the protein composition). An almost complete absence of alpha-1 proteins is detected.

Elevated liver enzymes can also be detected in the blood. Ultrasound shows an enlarged liver (med. : hepatomegaly).

A liver biopsy (tissue samples of the liver) also shows characteristic deposits. Since the enzyme alpha-1-antitrypsin is not correctly formed in the liver, the incorrectly formed enzyme is deposited in the liver cells and thus destroys them. This increases liver parenchyma markers such as GOT, GPT, and glutamate dehydrogenase (GLDH).

Alkaline phosphatase is also often elevated. In advanced liver cirrhosis, other parameters are also affected. Typical would be a lowered albumin, a lowered cholesterol esterase (CHE) and lowered coagulation factors, as well as an increased ammonia level.

There are two tests that really detect this disease. This is the serum electrophoresis and the genetic test. In serum electrophoresis, the total concentration of serum proteins from the blood and their fractionation is determined.

It is a laboratory diagnostic test. In general, protein concentrations are shown as a line with peaks in a coordinate system. There are 5 peaks, the second peak of this curve represents the content of alpha-1-globulins, which includes alpha-1-antitrypsin.

If there is a deficiency, this peak is correspondingly smaller. The genetic test is carried out in a human genetics laboratory, for example. For this, the patient’s DNA is examined for mutations in the corresponding gene (see inheritance). All other examinations, such as a lung function test, chest x-ray or liver ultrasound, can explain symptoms of the disease, but not the cause of it.


Nowadays, the lack of alpha-1-antitrypsin can easily be corrected by intravenous administration of the protein. In addition, however, the organ diseases must be treated (especially cirrhosis of the liver) and any damage that has already occurred must be repaired. In extreme cases, however, a liver or lung transplantation must be considered. The administration of alpha-1-antitrypsin has the following side effects: In the future a gene therapy is possible. – Nausea

  • Allergies
  • Fever
  • Rare: anaphylactic shock (allergic shock), which can be life-threatening

Life expectancy

Alpha-1-antitrypsin deficiency is caused by various mutations in the genes. It is a rare, hereditary disease that occurs with a frequency of about 1:2000 to 1:5000. Those affected can suffer from a mild or severe form of the disease, which is associated with various secondary diseases and complications.

The life expectancy of patients, especially those affected by a severe form, is reduced compared to the healthy population. Life expectancy is estimated to be around 60 to 68 years. However, this only applies to patients who undergo consistent therapy and adhere to a strict smoking ban.

Alcohol consumption should also be avoided, as it further increases the probability of liver disease. Life expectancy is strongly dependent on the secondary diseases and the preserved organ function of the lungs and liver. In the case of organ failure or very limited function, the last resort is usually only an organ transplant, which is also associated with a reduced life expectancy and the risk of further secondary diseases.