Alpha-1 antitrypsin deficiency is an inherited metabolic disorder. The AAT deficit primarily damages the lungs and the liver. Without treatment, it is fatal. Learn more about the symptoms, causes, and therapy for Alpha-1 antitrypsin deficiency here.
Medical experts describe an hereditary deficiency of alpha-1-antitrypsin as an alpha-1-antitrypsin deficiency or a protease inhibitor deficiency. The functional protein alpha-1-antitrypsin is formed in the liver in healthy people. The deficiency does not initially affect the liver. It is mainly the lungs that are affected. Here, the AAT deficit leads to chronic inflammation. Doctors speak of COPD. This is the abbreviation of the English “chronic obstructive pulmonary disease”. Translated this means: chronically progressing lung disease. Without suitable therapy, the alveoli expand and eventually burst. This hyperinflation is what doctors refer to as pulmonary emphysema. As the alpha-1-antitrypsin deficiency progresses, the liver also becomes damaged. Inflammation of the liver and cirrhosis of the liver occur.
Alpha-1 antitrypsin deficiency is caused by a genetic defect. The consequences are exacerbated primarily by smoking. Because smoking and other air pollutants reduce the effect of the little alpha-1-antitrypsin that those affected often still form. In the treatment of alpha-1-antitrypsin deficiency, protein is replaced in the form of medication.
Alpha-1 antitrypsin deficiency is one of the rare diseases with 2.5 new cases per 10,000 inhabitants and year. At the same time, protease inhibitor deficiency is one of the most common hereditary diseases. The congenital type 1 diabetes, which is much better known to the public, accounts for only 1.5 new cases per 10,000 inhabitants and year. The disease rate of cystic fibrosis, which is known to many people as cystic fibrosis, is of a similar order of magnitude.
Experts assume a significant number of unreported cases. Some estimates say that up to 40 percent of people with COPD may also have an alpha-1 antitrypsin deficiency.
Symptoms of alpha-1 antitrypsin deficiency are similar to those of COPD at an early stage. The disease begins with a cough and a strong expectoration similar to bronchitis. Other signs are increasing difficulty breathing with wheezing or wheezing.
In the course of the disease, the lung tissue is increasingly damaged. The alveoli expand and burst. The oxygen supply deteriorates due to this pulmonary emphysema. The symptoms of pulmonary emphysema include increasing difficulty in breathing. The productive cough turns into a dry, irritable cough. If there is a pronounced lack of oxygen, the skin turns blue (cyanosis).
Sometimes a right heart weakness and an increase in pressure in the pulmonary circulation with right heart stress (cor pulmonale) develop. For example, those affected only get enough oxygen in an upright position and almost sleep in a sitting position. In the further course, breathing becomes exhausted even with the slightest exertion, later there is even shortness of breath even at rest.
Liver symptoms of alpha-1 antitrypsin deficiency
The liver symptoms of alpha-1-antitrypsin deficiency occur significantly less frequently than the damage to the lungs. However, inflammation of the liver is already possible in childhood. The first visible symptom of inflammation of the liver (hepatitis) is often a yellowing of the skin and mucous membrane. Even in children and adolescents, alpha-1-antitrypsin deficiency sometimes causes liver destruction. Shrinking liver, incurable liver cirrhosis, occurs.
Alpha-1 antitrypsin deficiency is caused by a congenital genetic defect on chromosome 14.
Medical professionals differentiate between the homozygous and heterozygous forms of alpha-1-antitrypsin deficiency.
- If both maternal and paternal chromosome 14 are abnormally affected, it is the homozygous form. In this case, the lack of alpha-1 antitrypsin is particularly pronounced.
- If the pathological genetic mutation is only present on one chromosome (heterozygous form), the liver cells still form small, but often insufficient, amounts of alpha-1-antitrypsin.
The function of alpha-1 antitrypsin
Alpha-1-antitrypsin is the main antagonist of a certain group of enzymes, the proteases. These enzymes have an initially very useful task. They break down molecules and ensure that old or diseased tissue can be broken down. In addition, our body increasingly produces proteases in the event of inflammation or irritation due to environmental influences. Alpha-1-antitrypsin, as a natural antagonist, ensures that the proteases do no harm. Doctors therefore call alpha-1-antitrypsin a protease inhibitor. If there is a lack of protease inhibitors or alpha-1-antitrypsin deficiency, the opposing effect of the opponent is missing. The proteases are no longer slowed down and gradually destroy more tissue. This happens primarily in the lungs and liver.
In healthy people, alpha-1-antitrypsin is produced in the liver. The liver symptoms of alpha-1-antitrypsin deficiency are mainly explained by the fact that the liver cells intended for production do not function properly. Instead of alpha-1 antitrypsin, they form other compounds. They sometimes accumulate in the liver cells and initially lead to liver inflammation and ultimately to liver cirrhosis.
The diagnosis of alpha-1-antitrypsin deficiency can be reliably verified on the basis of a blood test. The alpha-1-antitrypsin concentration in the blood plasma is measured. There are also blood tests that show a pathological change in chromosome 14.
Imaging procedures such as x-rays or computed tomography of the lungs are used to determine the extent of lung damage. The so-called pulmonary function test and standardized questionnaires provide the first clues for this. With the so-called COPD Assessment Test, for example, the CAT score is determined.
If there is evidence of alpha-1 antitrypsin deficiency, the liver is also examined in detail. In order to measure liver function, the liver values in the blood are determined. Imaging procedures can make liver damage visible.
Alpha-1 antitrypsin deficiency is currently not curable. The AAT deficit can, however, be compensated for with alpha-1 antitrypsin in medication form. This alpha-1 antitrypsin is derived from human donor blood. It is usually given as an infusion once a week.
In addition, patients with alpha-1 antitrypsin deficiency should never smoke. Respiratory protection should always be worn for dusty work such as fire fighting, mowing or sanding.
The further treatment depends on the extent of the lung and / or liver damage. You can find detailed information in the guides:
- Chronic bronchitis
As already mentioned, the alpha-1-antitrypsin deficiency itself is not curable. A prognosis of the course of the disease is only possible individually. There are people affected who have a normal life expectancy. This is especially true for non-smokers, for whom the alpha-1-antitrypsin deficiency was recognized even before lung damage occurred. In contrast, the prognosis is significantly worse for patients with a late diagnosis and severe lung damage. These people almost always rely on a lung and liver transplant. Without new lungs, 40 percent die within 2 years of diagnosis.
Since alpha-1-antitrypsin deficiency is an inherited disease, you cannot effectively prevent it.
If alpha-1 antitrypsin deficiency is diagnosed, however, there are preventive measures that protect against infections and a deterioration in organ function. People with alpha-1-antitrypsin deficiency should never smoke and keep their alcohol consumption to a minimum. It also makes sense to protect yourself against respiratory infections with vaccinations. In the first place here is the flu shot. Vaccination also protects against frequent pneumococcal pneumonia.