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Inherited Disorders and Birth Defects

Alpha 1 Antitripsin deficiency disorder

03/21/2007

Question:

Hi I am 21 and was diagnosed about 2 years ago with alpha 1 deficiency. It was only discovered during blood tests when the doctor looked at my liver tests, and said i had the liver of an alcoholic. I don`t have 2 deficient genes (ZZ) i just have one (MZ). I have found in my life i cannot exercise as much as everyone else without becoming tired in body and short of breath, in the winter i get around 5-7 colds where i am bed ridden for about 3 days, if i drink more than a few drinks i feel extremely sick the next day (i don`t drink regularly) and i feel very weak if i don`t eat regularly (more so than others). I was wondering if these are typical symptoms of the disorder i have. I know that smoking typically makes it worse and although i have never smoked, my mom smoked around 40-50 a day whilst pregnant with me and whilst i lived with her until mid teens. Will this have made it alot worse? Thankyou

Answer:

Alpha 1 antitrypsin deficiency is an inherited disease that affects the lungs and liver in children and adults with the disease.

The following information about alpha-1 antitrypsin deficiency is from the Genetics Home Reference Guide that is maintained by the National Institutes of Health (website below):

"The first signs and symptoms of lung disease caused by alpha-1 antitrypsin deficiency usually appear between ages 20 and 50. The earliest symptoms are shortness of breath following mild activity, reduced ability to exercise, and wheezing. Other signs and symptoms can include unintentional weight loss, recurring respiratory infections, fatigue, rapid heartbeat upon standing, and vision abnormalities. Advanced lung disease leads to emphysema, in which small air sacs in the lungs (alveoli) are damaged. Characteristic features of emphysema include difficulty breathing, a hacking cough, and a barrel-shaped chest. Smoking or exposure to tobacco smoke accelerates the appearance of symptoms and damage to the lungs."

Also, about "15 percent of adults with alpha-1 antitrypsin deficiency have liver damage".

Usually someone with only one deficient allele - MZ type - does not have any problems, however, not always. Research has found that a small percentage of people with the MZ type can have both liver and lung disease. Lung disease is more common in those people who smoke. Also, as in your case, exposure to second-hand smoke can also increase the chance of having lung problems.

Also, because alpha-1 antitrypsin deficiency is an inherited disease (autosomal recessive) and because the disease is very common - I would recommend that you talk to a geneticist or genetic counselor regarding the chance of having children with the disease as well. You can locate a genetics center near you at the National Society of Genetic Counselors Resource Center website listed below.

References:

Related Resources:

National Society of Genetic Counselors Resource Center
Genetics Home Reference

For more information:

Go to the Inherited Disorders and Birth Defects health topic, where you can:

Response by:

Anne Matthews, RN, PhD Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University