About familial emphysema

What is familial emphysema?

Alpha-1 antitrypsin deficiency (A1AD) is a hereditary disorder characterized by low levels of a protein called alpha-1 antitrypsin (A1AT) which is found in the blood. This deficiency may predispose an individual to several illnesses and most commonly manifests as chronic obstructive pulmonary disease (including bronchiectasis) and liver disease (especially cirrhosis and hepatoma), or more rarely, as a skin condition called panniculitis. A1AD is also more frequent among individuals with Wegener's granulomatosis. A deficiency of A1AT allows substances that break down proteins (so-called proteolytic enzymes) to attack various tissues of the body. The attack results in destructive changes in the lungs (emphysema) and may also affect the liver and skin. Alpha-1 antitrypsin is ordinarily released by specialized, granules within a type of white blood cells (called neutrophils or polymorphonuclear leukocytes) in response to infection or inflammation. Deficiency of alpha-1 antitrypsin results in unbalanced (i.e., relatively unopposed) rapid breakdown of proteins (protease activity), especially in the supporting elastic structures of the lungs. Over years, this destruction leads to progressive emphysema and is accelerated by smoking, some occupational exposures, and likely by other genetic modifiers of this risk which remain incompletely understood.

What are the symptoms for familial emphysema?

You can have emphysema for many years without noticing any signs or symptoms. The main symptom of emphysema is shortness of breath, which usually begins gradually.

You may start avoiding activities that cause you to be Short of breath, so the symptom doesn't become a problem until it starts interfering with daily tasks. Emphysema eventually causes Shortness of breath even while you're at rest.

What are the causes for familial emphysema?

The main cause of emphysema is long-term exposure to airborne irritants, including:

  • Tobacco smoke
  • Marijuana smoke
  • Air pollution
  • Chemical fumes and dust

Rarely, emphysema is caused by an inherited deficiency of a protein that protects the elastic structures in the lungs. It's called alpha-1-antitrypsin deficiency emphysema.

What are the treatments for familial emphysema?

Emphysema and COPD can't be cured, but treatments can help relieve symptoms and slow the progression of the disease.

Medications

Depending upon the severity of your symptoms, your doctor might suggest:

  • Bronchodilators. These drugs can help relieve coughing, shortness of breath and breathing problems by relaxing constricted airways.
  • Inhaled steroids. Corticosteroid drugs inhaled as aerosol sprays reduce inflammation and may help relieve shortness of breath.
  • Antibiotics. If you have a bacterial infection, like acute bronchitis or pneumonia, antibiotics are appropriate.

Therapy

  • Pulmonary rehabilitation. A pulmonary rehabilitation program can teach you breathing exercises and techniques that may help reduce your breathlessness and improve your ability to exercise.
  • Nutrition therapy. You'll also receive advice about proper nutrition. In the early stages of emphysema, many people need to lose weight, while people with late-stage emphysema often need to gain weight.
  • Supplemental oxygen. If you have severe emphysema with low blood oxygen levels, using oxygen regularly at home and when you exercise may provide some relief. Many people use oxygen 24 hours a day. It's usually administered via narrow tubing that fits into your nostrils.

Surgery

Depending on the severity of your emphysema, your doctor may suggest one or more different types of surgery, including:

  • Lung volume reduction surgery. In this procedure, surgeons remove small wedges of damaged lung tissue. Removing the diseased tissue helps the remaining lung tissue expand and work more efficiently and helps improve breathing.
  • Lung transplant. Lung transplantation is an option if you have severe lung damage and other options have failed.

What are the risk factors for familial emphysema?

Factors that increase your risk of developing emphysema include:

  • Smoking. Emphysema is most likely to develop in cigarette smokers, but cigar and pipe smokers also are susceptible. The risk for all types of smokers increases with the number of years and amount of tobacco smoked.
  • Age. Although the lung damage that occurs in emphysema develops gradually, most people with tobacco-related emphysema begin to experience symptoms of the disease between the ages of 40 and 60.
  • Exposure to secondhand smoke. Secondhand smoke, also known as passive or environmental tobacco smoke, is smoke that you inadvertently inhale from someone else's cigarette, pipe or cigar. Being around secondhand smoke increases your risk of emphysema.
  • Occupational exposure to fumes or dust. If you breathe fumes from certain chemicals or dust from grain, cotton, wood or mining products, you're more likely to develop emphysema. This risk is even greater if you smoke.
  • Exposure to indoor and outdoor pollution. Breathing indoor pollutants, such as fumes from heating fuel, as well as outdoor pollutants — car exhaust, for instance — increases your risk of emphysema.

Is there a cure/medications for familial emphysema?

Depending upon the severity of your symptoms, your doctor might suggest:

  • Bronchodilators. These drugs can help relieve coughing, shortness of breath and breathing problems by relaxing constricted airways.
  • Inhaled steroids. Corticosteroid drugs inhaled as aerosol sprays reduce inflammation and may help relieve shortness of breath.
  • Antibiotics. If you have a bacterial infection, like acute bronchitis or pneumonia, antibiotics are appropriate.

Video related to familial emphysema