Alpha-1 Antitrypsin Deficiency

AATD

What is it?

What is AATD?

  • An inherited genetic disease affecting liver and lungs

  • No cure

  • causes yellowing of the skin and whites of the eyes (jaundice)

  • There are different levels and severities of the disease, Caius having the worst one

  •  1 of the 3 most lethal genetic diseases (along with with cystic fibrosis and Down syndrome)

  • The absence or mutation of the alpha1 protein made in the liver

  • Commonly misdiagnosed as asthma, and as chronic respiratory infections (think whenever you’ve heard “my so-and-so has lung/liver disease and hasn’t smoked/drank a day in their life!)

  • There are three mutations of the gene. M, S, and Z. You get one from Mom, and one from Dad

  • The variants are classified based on levels of alpha1-antitrypsin protein

  • Carriers of these genes often go undiagnosed. Although the severity of Caius’ is rare, it isn’t uncommon to carry a mutation. These people are predisposed to liver disease and obstructive pulmonary disease (I.e COPD, cirrhosis, emphysema)

  • Caius has the rarest genome and most extreme, ZZ. His liver produces close to 0 alpha-1 protein, and the abnormality it does produce accumulate in the liver and damages the organ

What Does the Alpha-1 Protein Do?

  • It is a protein made in your liver to help protect your lungs

  •  It protects neutrophils (white blood cells that fight infection and heal injury)

  • Caius has the rarest genome and most extreme, ZZ. His liver produces no detectable amount of alpha-1 protein. The Z allele is only carried by 2-3% of the population

Final Words

  • Worldwide, it is estimated that 185 million people have one copy of the S or Z allele and one copy of the M allele in each cell (MS or MZ)

  • Individuals with an MS (or SS) combination usually produce enough alpha-1 antitrypsin to protect the lungs. People with MZ alleles, however, have a slightly increased risk of impaired lung or liver function

All information on Alpha-1 Antitrypsin Deficiency comes from Medscape. Please follow the link here for more details.

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