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Alpha-1 Lung Disease: Symptoms & Associated Conditions

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This information was reviewed and approved by Karina Serban, Robert Sandhaus, Robert A. Sandhaus, MD, PhD, FCCP (11/1/2017).

What are the symptoms of Alpha-1 lung disease?

People who develop Alpha-1 lung disease can develop shortness of breath by the time they are 40 or 50 years old, frequently earlier in those who smoke cigarettes. Some with Alpha-1 lung disease will develop bronchitis and eventual disruption of the normal architecture of the bronchial tubes and air sacs, such as bronchiectasis and emphysema. This can lead to recurrent episodes of cough, sputum production and even pneumonia. But shortness of breath is the most common symptom with developing Alpha-1 lung disease.


How does Alpha-1 lung disease affect other organs and systems in the body?

Liver Disease

In addition to causing lung disease, 25 percent of people with Alpha-1 deficiency due to the PiZZ genes will develop liver disease.  Liver disease from Alpha-1 can also affect newborns and children.


Skin Disease

Panniculitis is a disorder of skin tissue, including fat that lies underneath the skin. It usually involves inflamed, red lumps, often found on the legs. This condition is very rare. Alpha-1 antitrypsin replacement therapy is effective for the treatment of skin lesions.


Pulmonary Hypertension

This is a disorder of large and small blood vessels in the lung that leads to increased pressure, or hypertension, in the large vessels leading to the lungs from the right side of the heart. In very severe cases, the increasing pressure inside the right side of the heart can lead to right heart failure. This can be evaluated by cardiac ultrasound (cardiac echo) or heart catheterization.



Low oxygen levels in the bloodstream (hypoxemia) can be measured using a finger pulse oximeter. Severe emphysema and living at high altitude can be associated with hypoxemia and will require you to wear oxygen when walking, with sleep, or even 24 hours a day. Prolonged hypoxemia can cause pulmonary hypertension.



Significant weight loss, poor appetite, muscle atrophy and fatigue in someone who is not trying to lose weight is called cachexia. In people with Alpha-1, this condition is caused by the spillover of the inflammatory chemicals from the affected lung or liver into the main bloodstream and by the increasing amount of the body’s energy that is devoted to the respiratory muscles.



This is decreased ability to sustain a physical effort, from walking to carrying grocery bags. The diagnosis of deconditioning is based on your symptoms and completion of a cardiopulmonary exercise test ordered by your doctor.


Cardiovascular Disease

Overlap with coronary artery disease and hypertension is common in people with Alpha-1. The shortness of breath, hypoxemia and deconditioning may be worse. All people with Alpha-1 may be screened for cardiac disease. Attention should be paid to medications prescribed for the treatment of both conditions, as several lung medications can worsen a heart condition, and some medications used to treat hypertension and angina can negatively affect the lung.


Thromboembolic Disease

People with Alpha-1 can develop blood clots, especially in the veins of the calves and thighs, which later can migrate into the lung circulation and cause pulmonary embolism. Engorged and painful veins or acute severe shortness of breath are symptoms associated with this disease. Testing in a hospital setting is necessary to perform a leg ultrasound and chest computed tomography. Treatment with blood thinners is the usual treatment.



Nontuberculous mycobacteria lung infection, also called NTM, MAC or MAI, may occur more often in people with Alpha-1, even in heterozygous people, such as PiMZ. Nontuberculous mycobacteria are organisms commonly found in water and soil that can cause a lung disease resembling tuberculosis, although not contagious. Nontuberculous mycobacteria are difficult to treat, and consultation with an infectious disease specialist is often helpful.

People with Alpha-1 who have a catheter like a port or PICC line for weekly Alpha-1 antitrypsin augmentation therapy administration can develop catheter-related bloodstream infections with bacteria found commonly on the skin. Testing in a hospital setting is necessary to collect blood cultures. It is recommended to remove the catheter while receiving antibiotic treatment and carefully reconsider placing a new catheter.


Lung Cancer

There is some evidence that people with Alpha-1 Z or S genes may be at increased risk of developing lung cancer, even in the absence of exposure to cigarette smoke or asbestos, the two most common risk factors for lung cancer. A CT of the chest is a useful screening method for lung cancer.

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