Your Alpha-1 genotype is SZ. This means that you have AATD. AATD is a genetic condition that raises the risk for the development of A condition or illness that arises slowly over days or weeks and may or may not resolve with treatment. It is the opposite of acute. obstructive Medical term referring to the lungs. disease (COPD) and, in some cases, liver disease. The S mutation causes a moderate reduction in the quantity of alpha-1 antitrypsin (alpha-1 antitrypsin) in the blood and is risk-raising when combined with a second AATD mutation. The Z mutation is a deficiency allele (version of the gene) that traps alpha-1 antitrypsin in the liver and reduces the quantity in the blood. Risks for lung disease, and to a lower extent for liver disease, are increased by this genotype. However, we would stress that not all people with this genotype develop lung or liver disease. We recommend that you follow-up with a physician familiar with Alpha-1 to discuss personalized screening or management recommendations. A list of Alpha-1 specialists can be found at www.alpha1.org.Alpha-1 at MUSC – Genetic Counseling
Because Alpha-1 is a genetic condition, your result means that your relatives are at increased risk to have AATD or carry abnormal alpha-1 genes. We encourage you to make your family members and any reproductive partner aware of the condition in your family and the availability of testing. Testing for relatives must evaluate the S and Z mutations to ensure accurate results.
S: mild variantWhat is Your Phenotype and What Does it Mean? – Kimberly Foil, MS, CGC, Genetic Counseling Program, Alpha-1 Foundation; Division of PulmonaryMedical term referring to the lungs. and Critical Care Medicine, Medical University of South Carolina (MUSC)
• more common than the Z allele
• doesn’t get trapped in the liver – not typically associated with liver disease
• originated in the Iberian Peninsula (Spain and Portugal)
• low estimate that 5% (possibly as high as 12%) of North Americans are MS
Z:What is Your Phenotype and What Does it Mean? – Kimberly Foil, MS, CGC, Genetic Counseling Program, Alpha-1 Foundation; Division of PulmonaryMedical term referring to the lungs. and Critical Care Medicine, Medical University of South Carolina (MUSC)
• the most common clinically significant allele
• causes misfolding of antitrypsin in the liver – making normal quantities of the protein but it misfolds, gets stuck to others and forms polymers which get stuck in the liver.
• 85% trapped in the liver
• originated in Scandinavia
• estimated that 2-3% of people in North America have one copy of the Z allele
Patients with the PiSZ phenotype have a 20-50% increased likelihood of developing Obstructive airway disease in which the walls of the alveoli (air sacs) are damaged or destroyed. compared with MM homozygotes.Alpha1-Antitrypsin Deficiency – Medscape