Alpha-1 Antitrypsin Deficiency

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Description

Alpha-1 Antitrypsin Deficiency (AATD) is a rare genetic disorder that affects the production of a protein called alpha-1 antitrypsin. This protein plays a crucial role in protecting the lungs from damage caused by inflammation. Individuals with AATD have a deficiency of this protein, making them more susceptible to lung diseases like emphysema and chronic obstructive pulmonary disease (COPD), as well as liver problems. This blog will delve into the intricacies of AATD, exploring its causes, symptoms, diagnosis, management strategies, and ways to thrive with the condition.

Genes Involved

Genes Involved:

• SERPINA1 Gene: The gene responsible for producing alpha-1 antitrypsin. Mutations in this gene lead to AATD.

Recognizing the Signs and Symptoms

Recognizing the Signs and Symptoms:

• Lung Problems:
  • Shortness of breath, especially during exertion
  • Frequent respiratory infections
  • Chronic cough and wheezing
  • Emphysema, a condition that damages the air sacs in the lungs
  • Chronic obstructive pulmonary disease (COPD)
• Liver Problems:
  • Jaundice (yellowing of the skin and eyes)
  • Enlarged liver
  • Liver cirrhosis
  • Liver failure
• Other Symptoms:
  • Skin problems like eczema
  • Asthma
  • Pancreatitis

Causes

Causes:

• Genetic Inheritance: AATD is inherited in an autosomal recessive pattern. This means that both parents must carry a copy of the mutated gene for their child to develop the disorder. If only one parent carries the gene, the child will be a carrier but will not have AATD.

Inheritance/recurrence risk

Inheritance or Recurrence Risk:

• Risk of Inheriting AATD: If both parents carry the mutated gene, there is a 25% chance that their child will inherit two copies of the gene and develop AATD. There is a 50% chance that their child will inherit one copy of the gene and become a carrier, and a 25% chance that their child will inherit two copies of the normal gene and not have AATD.
• Recurrence Risk: The risk of having another child with AATD is the same as the risk for the first child.