Alpha-1-antitrypsin deficiency is a congenital disease transmitted at the genetic level during the conception of a child. Symptoms begin to appear from the first days of the baby's life. Over time, clinical signs become more diverse, and the patient's condition gradually worsens. In most patients, doctors diagnose a pulmonary form of pathology. Only 12% of patients have symptoms of liver tissue damage. Modern medicine does not have specific means for treating an ailment. Therefore, the main measures should be aimed at slowing down the course of the disease.
What is alpha-1 antitrypsin?
This is a protein for the production of which liver cells are responsible. From there, it enters the bloodstream, and then is transported to the lungs. What is this protein for? Its main function is to protect lung tissue from damage by other types of proteins - enzymes. These substances are necessary for the full functioning and development of the whole organism. For example, proteases are responsible for removing bacteria from the lungs, helping to fight infection. When released in large quantities, they also help protect the alveoli from exposure to tobacco smoke. The activity of these enzymes must be balanced. When the indicators deviate upward, the pulmonary elements begin to melt. Alpha-1-antitrypsin allows the regulation of protease enzyme activity .
How is the deficit formed?
Only 46 chromosomes are contained in one cell nucleus. All of them are divided into 23 pairs. In each pair, one chromosome is inherited from the father, the other from the mother. It is a filamentous structure. In turn, each gene consists of a specific sequence of deoxyribonucleic acid and occupies a specific place in the chromosome. He also controls a specific function or performs his own work in the body. DNA forms the human genetic material.
Alpha-1 antitrypsin deficiency is accompanied by gene damage in chromosome No. 14. When duplicating, protein is not produced in the required amount, a deficiency is formed. This substance settles in the liver and does not enter the lung tissue. Such a violation entails damage to the alveoli and the development of emphysema. Residual protein in the liver contributes to the formation of scar tissue. As a result, liver failure develops .
Disease transmission mechanism
The pathology characterizing Alpha-1-antitrypsin deficiency was first described in 1963 by Danish physician Sten Erickson. Today she is diagnosed extremely rarely. However, the number of patients increases exponentially. Why? It is all about the genetic nature of pathology. The disease is inherited when both parents are carriers of an abnormal gene. According to statistics, 1 person out of 25 is diagnosed with a similar defect. If two partners of the opposite sex with a damaged gene decide to conceive a baby, it is very likely that an unhealthy child will be born. Today, for every 5 thousand people there is only one with the development of a full-fledged clinical picture. Just a few decades ago, these figures were many times lower. For 20 thousand people, only one was found with a defective gene. Such statistics fully illustrate the extent of the spread of pathology.
Symptoms and first manifestations of the disease
The clinical picture of the pathological process is largely determined by its form and degree of damage. For most people, the symptoms of the disease have not been felt for decades. In others, on the contrary, pathology is rapidly progressing. The patient’s living conditions and his lifestyle are imprinted on this process.
Pulmonary manifestations of the disease are most common. In smokers, they appear after 20 years. In patients adhering to a healthy lifestyle, this line is exceeded almost 2 times (40-45 years). First, shortness of breath appears after intense physical exertion. It gradually leads to a worsening of the respiratory process. Then a cough with sputum is added. This disease is characterized by frequent inflammatory lesions of the upper respiratory tract.
Alpha-1-antitrypsin deficiency in children, more precisely its liver symptoms, occurs from the first days of life. They appear in the form of hepatitis of unknown etiology, yellowness of the skin. By the age of 14-16, most clinical cases resolve towards minimizing hepatic symptoms. Some adolescents retain episodic pulling pains in the right hypochondrium. The appearance of hepatic symptoms in adults is dangerous for the development of complications. A similar picture characterizes scarring of the tissue of the organ, which subsequently leads to severe cirrhosis and death of a person.
Differential diagnosis
Protein Alpha-1-antitrypsin plays an important role in the functioning of the whole organism. Its insufficiency is accompanied by serious complications, and sometimes leads to the death of a person. The increased risk group for pathology includes:
- smoking people with emphysema, which appeared before the age of 45;
- patients with panniculitis;
- non-smokers who are diagnosed with emphysema after 45 years;
- newborn babies with severe jaundice or high liver enzymes;
- patients with bronchiectasis of unknown etiology.
For differential diagnosis, the patient must donate blood for alpha-1-antitrypsin. If the analysis confirms a protein deficiency, each member of the patient's family must undergo a complete medical examination to detect the defective gene. All other diagnostic measures are aimed at determining the degree of tissue damage. Periodically it is necessary to undergo examination for:
- assessment of lung volume and respiratory rate;
- determination of spirometry indicators;
- blood tests for liver tests.
Treatment principles
Emphysema provokes irreversible changes. Therefore, any applied therapy does not allow to restore the structure of the lungs or improve their work, but can stop the progression of the disease. Treatment is quite expensive and is recommended only for non-smokers who have a mild organ dysfunction. It is shown if, in the analysis, alpha-1-antitrypsin is within the lower limit.
Quitting smoking, the use of bronchodilators are important components of therapy. Experimental treatment using phenylbutyric acid, which allows you to reverse the impaired formation of proteins in hepatocytes, is still under development. Doctors offer lung transplantation to many patients under the age of 60. Information about the benefits of surgery to reduce the volume of an organ with emphysema is very contradictory.
Treatment for liver damage is symptomatic. Substitution of enzymes in most cases is ineffective, since the disease is caused by a pathological process. Organ transplantation is indicated for patients with liver failure . Corticosteroids and tetracyclines are used to treat panniculitis.
Forecast
What can patients expect with a diagnosis of Alpha-1-antitrypsin deficiency? The treatment of this disease involves only amelioration of the patient's condition. It is not possible to completely overcome this pathology. The prognosis depends on the degree of organ damage. In especially serious cases, it is unfavorable. A person dies from emphysema or cirrhosis.
Scientists from around the world continue to actively study this disease, to seek a universal cure. For example, in the USA and some European countries, patients are offered to undergo a disease-confirming test before starting experimental treatment. Alpha-1-antitrypsin, obtained from the plasma of absolutely healthy people, is administered intravenously. Treatment is carried out according to specially developed schemes. Similar procedures are repeated several times a month. This treatment method is expensive and preventive. In addition, it is not suitable for patients with hepatic manifestations of the disease, when not the lungs are involved in the pathological process. In such situations, therapy is reduced to eliminating the symptoms of the disease.
Preventive measures
Modern medicine cannot offer specific methods of disease prevention. Doctors recommend couples planning a baby concept to attend genetics consultations. This is especially true for parents, one of whom already has a defective gene.
To summarize
A disease characterized by a lack of pulmonary protease and an accumulation of pathological antitrypsin in the liver is relatively rare. However, every year the number of patients with its symptoms increases exponentially. Unfortunately, it is not possible to prevent its development.