Other than smoking cigarettes, one of the most common ways a person can develop emphysema is by receiving bad genes from your parents. If you inherit genes that cause alpha 1 antitrypson deficiency you most likely will develop emphysema.
While studying this condition I was surprised to learn that 200,000 people have been diagnosed with this condition, and this makes antitrypson 1 deficiency one of the most common hereditary disorders among Caucasians in the Western world, which includes Europe and the United States. Yet it's believed many who have it are not diagnosed (1).
Alpha 1 Antitrypson is a protein that is produced by liver cells and circulates in the blood and generally effects the lungs and liver. Elastase is a component of white blood cells used to kill invading bacteria and "neutralize invading particles inhaled into the lungs," according to National Jewish Health.
Once the job of elastase is complete, alpha 1 antitrypson inactivates elastase so that it does not destroy lung tissue. In the absense of alpha 1 antitrypson, elastase destroys lung tissue and this results in genetic emphysema.
Once a person has genetic emphysema diagnosis and treatment is the same as for any person with chronic obstructive pulmonary disease (COPD), and you can learn more by clicking here. The only difference is there is a blood test to check for alpha 1 antitrypson and other blood test to check for the gene that causes this genetic disorder.
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Those with genetic emphysema can get alpha 1 antitrypson infusions, especially at an early age. Here's an extract from the American College of Chest Physician's journal:
"Based on these data, it has become the standard of care to treat individuals with lung disease related to AATD with augmentation therapy. The usual dose is 60 mg/kg given weekly by IV infusion over 30 to 90 min. Side effects are rare but those reported include fever, leukocytosis, transient flu-like symptoms, asthenia, injection site pain, headache, dizziness, rash, transient hypertension and tachycardia, chest pain, increased cough, dyspnea, paresthesia, and pruritis, all in <1% of patients (based on product literature and prescribing information from augmentation therapies available in the United States)."
http://www.chestnet.org/accp/pccsu/%CE%B11-antitrypsin-augmentation-approaches-and-benefits?page=0,3
It is costly though. Treatments currently being studied include recombinant and inhaled forms. Since alpha antitrypson is made in the liver, a liver transplant cures the deficiency.
Those with genetic emphysema can get alpha 1 antitrypson infusions. Here is an extract from the American College of Chest Physician's journal:
"Based on these data, it has become the standard of care to treat individuals with lung disease related to AATD with augmentation therapy. The usual dose is 60 mg/kg given weekly by IV infusion over 30 to 90 min. Side effects are rare but those reported include fever, leukocytosis, transient flu-like symptoms, asthenia, injection site pain, headache, dizziness, rash, transient hypertension and tachycardia, chest pain, increased cough, dyspnea, paresthesia, and pruritis, all in <1% of patients (based on product literature and prescribing information from augmentation therapies available in the United States)."
http://www.chestnet.org/accp/pccsu/%CE%B11-antitrypsin-augmentation-approaches-and-benefits?page=0,3
It is expensive though. It also says:
"Virtually all of the circulating AAT protein is synthesized in liver hepatocytes... Liver transplantation “cures” AATD because the transplanted liver will produce and secrete normal levels of the protein, but it does not correct the abnormal gene in germ cells or other organs."
I read that 10-15% of all liver transplants are due to this antitrypson deficiency, which also often ruins the liver.
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