Your Alpha-1 genotype is FS. This means that you have a rare form of AATD. AATD is a genetic condition that raises the risk for the development of chronicA 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 pulmonaryMedical term referring to the lungs. disease (COPD) and, in some cases, liver disease. The F mutation produces a dysfunctional alpha-1 protein product. The S mutation causes a moderate reduction in the quantity of alpha-1 antitrypsin (AATalpha-1 antitrypsin) in the blood and is risk-raising when combined with a second AATD mutation. The FS genotype, based on a limited amount of literature, may be associated with an increased risk of developing lung disease. We would stress that not everyone with this genotype develops lung disease and exact risks are not known. The FS genotype has not been associated with an increased risk for 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 also have abnormal alpha-1 genes. We encourage you to make your family members aware of the condition in your family and the availability of testing. In order for your relatives to have accurate testing, the test must look for both the F and S mutations. AATalpha-1 antitrypsin level testing is not accurate to detect Alpha-1 involving the F mutation. Reproductive partners of people with abnormal alpha-1 genes should also be offered testing to assess risk to children.
F: dysfunctional
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)
- Near normal level but doesn’t bind neutrophil elastaseA powerful enzyme released from white blood cells to fight infection, but it can attack normal tissues (especially the lungs) if not tightly controlled by alpha-1 antitrypsin. Source: Genetics Home Reference. well
- AATalpha-1 antitrypsin levels may be normal in Alpha-1 involving the F
- Likely lung risks like a Z
- No liver accumulation
S: mild variant
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)
• 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