FAMILIAL EMPHYSEMA

SYMPTOMS

You may go years without seeing any signs of illness. Shortness of breath is the most common sign of familial emphysema, and it usually develops gradually. You may try to avoid things that cause you to become breathless, so the condition may not become an issue until it begins to interfere with your everyday activities. Nevertheless, it leads to difficulty breathing even while you’re at rest.

If your unusual breathing problems worsen, don’t go away, or affect your normal activities, see your physician.

DIAGNOSIS

Your doctor will ask about your health information and perform a physical check to see if you have emphysema. A range of tests may be suggested by your doctor.

• Imaging tests. An X-ray can assist confirm an advanced emphysema diagnosis and check out other reasons for breathing problems.
• Lab tests. The ability of your lungs to carry oxygen into and eliminate carbon dioxide from your bloodstream can be determined using blood drawn from an artery in your wrist.
• Lung function tests. These noninvasive procedures determine how much oxygen your lungs can retain, as well as how well air moves in and out of them. 

TREATMENT

Familial emphysema cannot be cured; however, therapies can help reduce symptoms and decrease the disease’s severity.

Medications

Your doctor may recommend the following treatments based on the intensity of your signs:

• Inhaled steroids
• Bronchodilators
• Antibiotics

Therapy

• Nutrition therapy
• Pulmonary rehabilitation
• Supplemental oxygen

Surgery

• Lung transplant
• Lung volume reduction surgery

If you have familial emphysema, there are a few things you can do to slow down the disease’s progression and safeguard yourself against risks:

• Avoid other respiratory irritants
• Stop smoking
• Protect yourself from cold air
• Exercise regularly
• Get vaccinations