alpha1antitrypsin deficiency

Synonyms in a broader sense English: alpha1-antitrypsin deficiency Laurell-Eriksson syndrome Alpha-1-protease inhibitor deficiency Introduction Alpha-1-antitrypsin deficiency is, as the name suggests, the absence of the protein alpha-1-antitrypsin, which is produced in the lungs and liver. It is therefore a metabolic disorder. This disease is inherited autosomal recessively. It occurs with a frequency of 1:1000 to … Alpha-1-antitrypsin deficiency

Diagnosis 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 … Diagnosis | Alpha-1-antitrypsin deficiency

Prophylaxis There is no real prophylaxis, since the disease is inherited. Those affected should not smoke, as it makes it more difficult and puts even more strain on the lungs. Alcohol should also be avoided due to the strain on the liver. Is alpha-1-antitrypsin deficiency hereditary? Alpha-1-antitrypsin deficiency is inherited. The corresponding gene sequence of … Prophylaxis | Alpha-1-antitrypsin deficiency