Patient Comments: Alpha 1 Antitrypsin Deficiency - Genetic Testing

Have you had genetic testing for alpha-1 antitrypsin deficiency? If so, what were the results?

Comment from: Laurie, 45-54 Female (Patient) Published: October 21

On October 17 2015, I just found out I have ZZ alpha-1 antitrypsin deficiency. This is all new yet. I have been having breathing issues, shortness of breath for years not knowing what was going on. I am going to be getting my CT scan, then starting Prolastin treatments weekly, and working with a respiratory therapist soon. I am hopeful.

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Comment from: aboss, 65-74 Female (Patient) Published: March 07

The result was cx1-antitrypsin concentration +30.6. M phenotype (by isoelectric focusing) PiMS genotype, was not performed. I am a heterozygote, "carrier" 0 for an X1-antitrypsin allele that usually results in mildly reduced plasma cx1-antitrypsin concentration (PiS).

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Alpha-1 Antitrypsin Deficiency: Symptoms Question: What symptoms did you experience with alpha-1 antitrypsin deficiency? How old were you when they appeared?
Alpha 1 Antitrypsin Deficiency - Effective Treatments Question: What kinds of treatment have you received for your disease caused by an alpha-1 antitrypsin deficiency?

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