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HEREDITARY MONOGENIC DISEASES

           

Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency (Alpha-1) is a hereditary genetic disorder which causes low quantities of the alpha-1 antitrypsin (AAT) protein. Alpha-1 antitrypsin is a protein made in the liver which plays an important role in preventing the breakdown of enzymes in various organs. Individuals with Alpha-1 have a genetic disorder that prevents their body from creating enough of this protein. Its principal function is to protect the lungs and other organs from harmful substances such as tobacco smoke or toxic substances. The  necessary information for the production of this protein in the liver is found in chromosome 14. Alpha-1 antitrypsin deficiency must be inherited from both parents (who are, by definition, carriers) in order to cause the disorder.

SIGNS AND SYMPTOMS

Alpha-1 antitrypsin deficiency can have health repercussions at various levels:

1) Lungs:

  • Emphysema is the most frequent illness produced by alpha-1 antitrypsin deficiency. It is a chronic illness that consists of the gradual and progressive destruction of the pulmonary alveoli, the basic anatomic structure of the lungs, through which oxygen passes to the blood. In time, the lungs get larger and air pockets develop inhibiting the gas exchange. Additionally, the bronchial tubes (the structures that carry air to the alveoli) narrow, making the passage of air to the lungs more difficult. Consequently, respiratory capacity diminishes and the patient notices a shortness of breath, worsening over time. Early in the disease, shortness of breath may occur with exercise and activity but symptoms gradually worsen and may occur even at rest. It is important to note that the development of emphysema in patients with alpha-1-antitrypsin deficiency is linked with smoking. Therefore, the most important preventative measure to delay or prevent this illness is the quit smoking and to avoid second-hand smoke and other environmental pollutants.
  • Bronchiectasis is as illness in which there is permanent enlargement of parts of the airways of the lung. Inflammation of the bronchial air passages causes them to enlarge, forming sacs that retain the mucus in the airways, resulting in coughing to dislodge the mucus and recurring respiratory infections.

2) Liver

Occasionally, the deficiency of this protein means that it cannot pass through to the blood and accumulates in the cells that produce it in the liver. This can cause:

  • Neonatal jaundice: newborn babies can have a hepatitis that causes an accumulation of pigment (bilirubin) and produces a yellowing of the skin and mucus of the baby. Normally, it has a good prognosis and disappears in a few days. In some patients, it can develop into a chronic hepatitis or serious hepatic failure.
  • Hepatitis and cirrhosis: Occasionally, and more frequently in adults, hepatic alterations can produce a chronic hepatitis (permanent inflammation of the liver) which, in its advanced stages, produces cirrhosis (the liver becomes scarred and stops functioning). At this stage, toxic substances accumulate in the organism and liquid may accumulate in the abdomen (ascites).

3) Other organs

AAT deficit has been linked to alterations in other organs although these are exceptional rare cases: panniculitis, vasculitis, etc.

RISK FACTORS

If a person with an AAT deficit thinks about having children, he/she should keep in mind that:

  • If his/her spouse is not a carrier of this deficit, the child will be a carrier
  • If his/her spouse is a carrier or has an AAT deficiency, the possibilities of the child having the deficiency are greater.

In any case, if the child leads a healthy lifestyle and does not smoke, he/she has a greater possibility for a healthy life.

Alpha-1 antitrypsin deficiency cannot be prevented due to its hereditary component, but there are some recommended measures that can be taken to reduce the possibility of developing emphysema:

  • Quit smoking
  • Avoid second-hand smoke
  • Avoid air pollution or irritants
  • Use protection when being exposed to irritants or toxic materials in the workplace

PREVENTION

Once the alpha-1 antitrypsin deficiency has been diagnosed, it is important to follow healthy habits for life. It is important to know that the appearance of emphysema in patients with alpha-1 antitrypsin deficiency is closely linked to tobacco and that the most important measure that can be taken to delay or prevent emphysema is to abstain from smoking and to avoid second-hand smoke.

Not smoking is fundamental for those with this disorder. The loss of respiratory capacity is directly related to smoking and the persons with this deficiency that have never smoked have a life expectancy the same as that of persons without the deficiency. Therefore, a smoker should immediately quit if diagnosed with alpha-1 antitrypsin deficiency to slow down the loss of respiratory capacity.

Exposure to environmental pollution is another factor that increases the loss of breathing capability. In the workplace, extreme caution should be taken, using all of the safety measures provided (masks, proper ventilation, etc.)

Physical activity should be maintained but adapted to one´s level of fatigue. The activity that was done previous to the diagnosis of alpha-1 antitrypsin deficiency should not be limited; however, if the effort produces excessive fatigue, another exercise or physical therapy program may be prescribed by the doctor to maintain a quality of life.

Keeping a balanced diet and adequate weight also aids in feeling better. Being overweight and underfed should be avoided

GENE OR REGION STUDIED


  • SERPINA1