Top
10
Doctor insights on: Alpha 1 Antitrypsin Deficiency Genetics Birth Defects

Share
1

1
Anyone with an alpha-1 antitrypsin deficiency with liver problems?

Anyone with an alpha-1 antitrypsin deficiency with liver problems?

Yes: People with the zz phenotype for alpha1antitrypsin can develop early emphysema, as well as liver disease. Although rare, some of the heterozygotes, e.g. Those with the mz phenotype may also develop lung disease and or liver disease. Go to www.Alphaone.Org. ...Read more

Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


2

2
Could there be a connection between alpha 1 antitrypsin deficiency and smoking marijuana?

Could there be a connection between alpha 1 antitrypsin deficiency and smoking marijuana?

Not sure: This is an interesting question as Alpha 1 antitrypsin deficiency is not "caused" by cigarette smoking, but can certainly be aggravated by it. Thus, i think it is safe to say that any smoking may aggravate the symptoms of Alpha 1, but i don't think that there is a direct connection as smoking marijuana does not have primary affect on the enzyme activity. ...Read more

3

3
My grandmother had alpha-1 antitrypsin deficiency, should I be tested for it?

My grandmother had alpha-1 antitrypsin deficiency, should I be tested for it?

Alpha 1 antitrypsin: The genetics of this deficiency is complicated. The test is widely available for screening. Your question requires an understanding of the implications of a positive test, so that a discussion and or consultation with a geneticist is probably a good idea. ...Read more

See 1 more doctor answer
4

4
What is the link between the alpha-1 antitrypsin deficiency and the emphysema ?

What is the link between the alpha-1 antitrypsin deficiency and the emphysema ?

Destruction: Alpha-1 anti-trypsin is a protective chemical in the body that prevents destruction of lung and other tissues from the damage that the infection fighting cells can inflict. When you have a lack of this chemical, the destruction of the infection fighting cells in the body can go unopposed. This is especially true when someone smokes, which attracts those cells to fight off the toxins in the smoke. ...Read more

See 1 more doctor answer
5

5
Could marijuana smoking be dangerous when you are a carrier for alpha-1 antitrypsin deficiency?

Smoking Marijuana?: Smoking marihuana can cause u to have symptoms similar to schizophrenia and can cause u to be in a motivational state. U r still 18 years old if u r not motivated , how can u succeed in life?! ...Read more

6

6
What is alpha-1 antitrypsin deficiency and what do I do about it?

What is alpha-1 antitrypsin deficiency and what do I do about it?

Genetic problem: Because of this gene mutation, body becomes deficient in Alpha -1 - antitrypsin protein and manifests as chronic lung disease, just like in COPD pts but affects a younger population and affects the bases of the lung more than the apices.. Fortunately it is available to take on a daily basis to bring the levels of a1at within 'normal' range. ...Read more

7

7
If my grandmother had alpha-1 antitrypsin deficiency, should I be tested?

If my grandmother had alpha-1 antitrypsin deficiency, should I be tested?

Maybe: If one has a family history of homozygous alpha1antitrypsin deficiency, then one should consider testing, as even a carrier of this, especially one with the mz phenotype, may develop lung or liver diseases, in rare cases.If found to be a carrier, one should avoid tobacco, lung pollutants, and alcohol;and one should be vaccinated for hepatitis a and b.For more info, go to alpha1foundation, www.Alphaone.Org, . ...Read more

8

8
Hello docs, is alpha-1 antitrypsin deficiency life-threatening?

Hello docs, is alpha-1 antitrypsin deficiency life-threatening?

Yes: With some variation, the form presenting in childhood can lead to liver failure and death if a liver transplant is not available. The chronic lung issues are disabling for some. ...Read more

See 1 more doctor answer
9

9
Which is the link btwn the alpha-1 antitrypsin deficiency and the emphysema ?

Which is the link btwn the alpha-1 antitrypsin deficiency and the emphysema ?

Proteases: Alpha-1-antitrypsin is a protease inhibitor. It is elevated in inflammation to keep the proteases in check which cause tissue damage. Its deficiency allows the neutrophil elastin protease to destroy elastin which are the necessary components in the elasticity of the lung and cause the destruction of the interstitial tissues and cause emphysema. ...Read more

10

10
My mom was tested for Alpha 1 antitrypsin Deficiency, her lab report says her result is 1.65 and the reference range is 1.09-2.88. Interpretation plz?

My mom was tested for Alpha 1 antitrypsin Deficiency, her lab report says her result is 1.65 and the reference range is 1.09-2.88. Interpretation plz?

See below: All laboratory results need to be interpreted in the clinical context and the doctor who ordered the tests is usually in the best position to do that. Having said that, from the data you provided, you mother is not deficient in alpha 1 anti-trypsin. ...Read more

Dr. Debra Rosenblatt
28 doctors shared insights

Inherited Emphysema (Definition)

Inherited emphysema, also know as alpha-1 antitrypsin deficiency, is a condition where alpha-1 antitrypsin accumulates in the liver causing liver damage and is deficient in the lungs, leading to lung destruction ...Read more


Dr. Nikolaos Zacharias
467 doctors shared insights

Birth Defects (Definition)

Birth defects is a term for structural or functional abnormalities that a baby is be born with. These defects can be the result of genetic mutations or external insults to the developing fetus, such ...Read more