Alpha-1 Antitrypsin Deficiency
Alpha-1 Antitrypsin Deficiency
Your Guide to
Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency runs in families. If you have it, you got it from faulty genes that both your parents passed on to you.
Some people get the genes but don't get any symptoms, or they have the mild version of the disease.
The broken genes you get from your parents cause you to have a low level of alpha-1 protein in your blood. The alpha-1 protein can build up in the liver instead of going into your bloodstream.
The buildup in your liver causes liver disease. The shortage of alpha-1 protein in your bloodstream leads to lung disease.
You might not know you have the disease until you're a young adult, between the ages of 20 and 40. You may feel short of breath, especially when you try to exercise. You also may start to wheeze, or have a whistling sound when you breathe.
You may also get a lot of lung infections. Other warning signs include:
If alpha-1 causes problems with your liver, you might have symptoms like:
A newborn baby might have jaundice, or a yellow coloring of the skin or eyes, very yellow urine, poor weight gain, an enlarged liver, and bleeding from the nose or umbilical stump.
In rare cases, a skin disease called panniculitis causes hardening of the skin with painful lumps or patches.
To get a diagnosis, your doctor may ask you questions such as:
He'll also listen to your breathing with a stethoscope to see if he hears wheezing or other signs that your lungs aren't working right.
You need to get blood tests to confirm your diagnosis. Your doctor will take a sample of blood from you and send it to a lab.
The blood tests check to see if you have the broken genes that cause alpha-1. They also look to see how much of the protein you have in your bloodstream.
Alpha-1 Antitrypsin Deficiency
Causes
Your Guide to
Alpha-1 Antitrypsin Deficiency
- What Is Alpha-1 Antitrypsin Deficiency?
- Causes
- Symptoms
- Getting a Diagnosis
- Questions for Your Doctor
- Treatment
- Taking Care of Yourself
- What to Expect
- Getting Support
Alpha-1 antitrypsin deficiency runs in families. If you have it, you got it from faulty genes that both your parents passed on to you.
Some people get the genes but don't get any symptoms, or they have the mild version of the disease.
The broken genes you get from your parents cause you to have a low level of alpha-1 protein in your blood. The alpha-1 protein can build up in the liver instead of going into your bloodstream.
The buildup in your liver causes liver disease. The shortage of alpha-1 protein in your bloodstream leads to lung disease.
Symptoms
You might not know you have the disease until you're a young adult, between the ages of 20 and 40. You may feel short of breath, especially when you try to exercise. You also may start to wheeze, or have a whistling sound when you breathe.
You may also get a lot of lung infections. Other warning signs include:
- Feeling tired
- Your heart beats fast when you stand up
- Weight loss
If alpha-1 causes problems with your liver, you might have symptoms like:
- Yellowish skin or eyes
- Swollen belly or legs
- Coughing up blood
A newborn baby might have jaundice, or a yellow coloring of the skin or eyes, very yellow urine, poor weight gain, an enlarged liver, and bleeding from the nose or umbilical stump.
In rare cases, a skin disease called panniculitis causes hardening of the skin with painful lumps or patches.
Getting a Diagnosis
To get a diagnosis, your doctor may ask you questions such as:
- Do you feel short of breath?
- Have you been getting a lot of colds or lung infections?
- Have you lost weight lately?
- Have you noticed any yellowing of your skin or eyes?
He'll also listen to your breathing with a stethoscope to see if he hears wheezing or other signs that your lungs aren't working right.
You need to get blood tests to confirm your diagnosis. Your doctor will take a sample of blood from you and send it to a lab.
The blood tests check to see if you have the broken genes that cause alpha-1. They also look to see how much of the protein you have in your bloodstream.