Alpha 1 Antitrypsin Deficiency Carrier

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 Alpha 1 antitrypsin deficiency definition and facts*

*Facts medically reviewed by Charles P. Patrick, MD, PhD

  • Alpha 1 antitrypsin deficiency  (AATD, antitrypsin deficiency, or alpha 1 antitrypsin deficiency) is a disorder (disease) that causes the alpha-1 antitrypsin (AAT) protein to be reduced or missing from the blood. This protein is necessary for healthy lungs, and the body uses it to protect the lungs from damage. If a person has low or no levels of AAT their lungs may be damaged.
  • Statistically, the disorder affects about one in 1500 to 3500 individuals with European ancestry. It is uncommon in Asians.
  • The signs and symptoms most people experience with this deficiency are :-

    • Chronic cough .
    • Emphysema .
    • COPD.
    • Liver failure.
    • Hepatitis.
    • Hepatomegaly (enlarged liver).
    • Jaundice.
    • Cirrhosis.
  • Mutations in the gene termed SERPNA1 cause alpha 1 antitrypsin deficiency carrier.
  • A patient with lung or liver disease like COPD (chronic obstructive pulmonary disease) with no obvious cause maybe AATD deficient.
  • Doctors can confirm the diagnosis of this deficiency with blood tests or liver biopsy.
  • How doctors treat AATD depends on the patient’s signs and symptoms. Examples of treatments include:
  • Bronchodilators and inhaled steroids can help lung problems.
  • Intravenous use of purified human ATT (Prolastin) raise the level of ATT in the blood and lungs (augmentation therapy) – end stage lung and liver disease may need transplantation of these organs as a definitive treatment.
  • Management of AATD involves pulmonary function tests, liver function monitoring and yearly vaccinations against influenza. Moreover, doctors recommend that patient’s with the deficiency be vaccinated against hepatitis A and B, and pneumococcus.
    • Stop smoking or reduce exposure to secondhand smoke.
    • Reduce exposure to environmental pollutants.
  • The prognosis for someone with this problem is quite variable, and is related to the development and progression of severity of the symptoms. However, many people have a somewhat shortened lifespan. If the symptoms are severe, the prognosis can be very poor.
  • Medical professionals refer to alpha-1 antitrypsin deficiency.

    • AAT.
    • AATD .
    • Alpha-1 proteinase inhibitor .
    • Alpha-1 related emphysema .
    • Genetic emphysema .
    • Hereditary pulmonary emphysema .
    • Inherited emphysema .

What is alpha 1 antitrypsin deficiency (AATD)?

Alpha-1 antitrypsin deficiency carrier (ATS) is a disorder that causes the absence or absence of alpha-antitrypsin (ATA) protein in the blood. The liver is pumped and sent through the bloodstream to the lungs, to protect the lungs from damage. Having low levels of AT (or not) can allow the lungs to be damaged, making breathing difficult. The age of onset and intensity of Aet may vary depending on the amount that is missing in the affected person. In adults, symptoms may include difficulty breathing. And low ability to exercise. Sapphire Respiratory infections, fatigue, vision problems and weight loss. Some people have chronic obstructive pulmonary disease (COPD) or asthma. Liver disease (cirrhosis) can occur in affected children or adults. In rare cases, a skin condition can cause an inflammation called iris. [1] A set of mutations in the SERPINA1 genes, inherited convincingly. [2] Treatment is based on each person’s symptoms and may include bronchodilators. Antibiotics for upper respiratory infections, intravenous treatment of intestines. And / or lung transplantation in severe cases.

 


How common is alpha 1 antitrypsin deficiency?

Alpha-1 deficiency occurs throughout the world, but its spread varies by population. This disorder affects approximately 1 in 1500 to 3,500 individuals of European origin. It is unusual for people of Asian descent. Many people with alpha-1 antitrypsin deficiency are probably not diagnosed, especially people with a lung condition called chronic obstructive pulmonary disease (COPD). Chronic obstructive pulmonary disease can be caused by alpha-1 deficiency of antitrypsin. However, alpha-1 antitrypsin deficiency is often never diagnosed. Some people with an anti-retinus alfa-1 deficiency are diagnosed with asthma

 


What are the genetic mutations that cause alpha 1 antipersin deficiency?

Mutations in the SERPINA1 gene cause alpha 1 antitrypsin deficiency.

Gene SERPINA1 provides instructions to produce a protein called alpha-1 antitrypsin. This protein protects the body from damage by a strong enzyme called neutrophil elastase. Elastase is released from white blood cells to fight infection, but can attack normal tissues (such as lung tissue) if not carefully controlled with alpha-1 antitrypsin. Mutations in the SERPINA1 gene can lead to a deficiency (deficiency) of the alpha-1 antitrypsin protein or an abnormal form of protein that can not control the elastase of neutrophils. Uncontrolled elastase neutrophils destroy the alveoli, which can lead to emphysema. The abnormal form of alpha-1 antitrypsin can also accumulate in the liver and damage this organ.

 Continue Read : Alpha 1 Antitrypsin Deficiency Treatment


SOURCES:

NIH; GARD. “Alpha-1 antitrypsin deficiency.” Updated: Apr, 06, 2016.
<https://rarediseases.info.nih.gov/diseases/5784/alpha-1-antitrypsin-deficiency>

NIH; Genetics Home Reference. “alpha-1 antitrypsin deficiency.” Updated: Jun 13, 2017.
<https://ghr.nlm.nih.gov/condition/alpha-1-antitrypsin-deficiency>

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