Liver and AATD

On the occasion of the celebration of liver cancer day and to give it greater visibility, as well as raise awareness among the population about the knowledge of this disease in relation to others, we bring you this news.

Relationship between the liver and AATD

AATD is the most common hereditary disease in Spain and in its most severe forms, it can cause damage to the lungs and liver.

Not all people with AAT deficiency suffer from liver problems, since in many cases it is mild and the patient does not even know they have it.

Alpha-1 Antitrypsin is a protein produced in the liver and its main function is to protect the lung from degradation and inflammation caused by infections or external agents.

When DAAT exists, this protein remains stagnant in the liver, which produces two consequences: it damages this organ and, by not passing into the bloodstream, it does not reach the lungs and leaves them unprotected.

The most common disease is cirrhosis, where severe scarring occurs in the liver; this can appear even in children and newborns due to ATT deficiency.

Diseases related to DAAT and life cycle

The development of hepatocellular carcinoma has been described in 2-3% of elderly ZZ individuals, or Wegener’s disease in 2-3%, and neutrophilic panniculitis.

This corresponds to 1 in 100 Pi*ZZ in the UK registry and 1 in 1,000 in the American registry.

Probability of incidence

Severe alpha 1-antitrypsin (AAT) deficiency is a complex monogenic disorder, with great variability in its clinical presentation, percentage of affected individuals and age of onset of diseases such as COPD.

Consequences of alpha 1 antitrypsin deficiency in the liver

In adults, the risk of liver cirrhosis depends on sex and age, being more pronounced in ZZ men over 50 years of age (20-40%) who, in addition, have a higher risk of hepatocellular carcinoma, both in cirrhotic and non-cirrhotic livers. cirrhotics, and is independent of their history of hepatitis B (HBV) or C (HCV) virus infection.

Liver cirrhosis

Liver diseases linked to Alpha-11 Antitrypsin Deficiency are:

1. Chronic hepatitis
2. Cirrhosis
3. Liver carcinoma.

It is not yet known why some individuals with Alpha-1 Antitrypsin Deficiency develop liver damage and others do not.

Liver lesions are related to the retention and polymerization of AAT in the liver in those affected with the PiZ allele; Furthermore, it usually occurs in childhood.

It is diagnosed when there is liver dysfunction that cannot be attributed to any other cause.

Frequency

The good news is that in most cases these alterations are stable during childhood and adolescence, without becoming serious. 

Only in certain cases can progressive liver damage occur that requires transplantation in children.

It is estimated that between 10-15% of children with the two defective ZZ genes develop clinical liver disease before the age of 20 years. 

Liver disease can also occur in adults and become severe in middle age.

Symptoms of Alpha 1 Antitrypsin Deficiency

Adult subjects with severe AATD usually present respiratory symptoms, but with early onset, starting at age 35 in smokers and after age 45 in non-smokers.

1. The most common symptom is dyspnea on exertion, which appears in 70-90% of patients.
2. Other common symptoms are cough (42%) and chronic expectoration (46%), related to the presence of bronchiectasis (23% of ZZ individuals).
3. Wheezing can be persistent or appear during exacerbations in up to 70-80% of cases.
4. Regarding the physical examination, there is no data that is specific to DAAT.

Recomendaciones

To finish, we only advise you on some simple guidelines such as quitting smoking, exercising daily, following a balanced diet, avoiding processed foods; and finally carry out periodic monitoring by medical experts.

Sources: Centro Andaluz Alfa 1, Alfa 1 España