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inherited lung disease :: Article Creator

Alpha-1: Should You Be Tested?

Alpha-1 antitrypsin deficiency is an inherited disease, which means it's passed down to you by your parents. It can lead to lung disease, especially if you smoke.

If you think there's a chance you have alpha-1, you should get tested. Though there's no cure yet, you can make smart moves to protect your lungs and get the right treatments.

Because most people with alpha-1 don't know they have it, many experts recommend alpha-1 testing for everyone with COPD or emphysema. It's also suggested if you have asthma that doesn't get better with treatment.

Most of the symptoms from alpha-1 are due to the effects in the lungs.

Symptoms of Alpha-1 include:

  • Shortness of breath
  • Wheezing
  • Frequent  colds, flu, or bronchitis
  • Fatigue
  • Unexplained weight loss

    • Though not common, some people develop liver symptoms, which include:

  • Jaundice, which causes your skin and eyes to turn yellowish
  • Swelling in your belly and legs

    • People who develop the illness have two faulty genes, one passed from each parent.

    It's possible to have just one broken gene, which makes you a carrier. You won't get alpha-1  yourself, but you pass the gene on to your children.

    A test can show that you have both genes. It cannot say for certain what will happen to your health. If you inherit two faulty genes, you may develop emphysema in your 40s or 50s -- or you may never get symptoms of lung disease. If you aren't tested, you may never even know you have alpha-1.

    The best way to diagnose alpha-1 is a test that looks at your DNA (genetic information.) Your doctor will take a blood sample. Lab workers will check your sample for the faulty genes that cause alpha-1.

    Another blood test measures how much of the alpha-1 protein is in your body.

    Your doctor may also suggest tests to look for lung disease. These may include:

  • A CT scan. This type of X-ray can spot emphysema.
  • Spirometry, which is a lung test to measure how much air you breathe in and out in a short time.
  • A blood gas test to measure how much oxygen is in your blood.

    • Though there's no cure for alpha-1, there are treatments to delay or prevent lung disease.

    It's also important to know if you can pass the genes on to family members.

    A healthy lifestyle -- including a balanced diet, regular exercise, and not smoking -- can help keep your lungs in the best possible shape. If you do develop lung disease, you can work with your doctor on a plan to help you manage symptoms and feel your best.

    Talk with your doctor if you have concerns about how to protect your privacy if you get tested.


    Types Of Interstitial Lung Disease (ILD)

    Interstitial lung disease (ILD) is a broad group of lung diseases comprising of more than a hundred distinct disorders. All of these involve scarring or inflammation of the interstitial lung tissue and affect the volume of oxygen that can reach the bloodstream via the respiratory system.

    They can be classified into different types, according to the cause of the disease, as described in more detail below.  

    Image Credit: April stock / Shutterstock.Com

    Idiopathic

    Although there are many known causes of interstitial lung disease, the most common of all types is idiopathic pulmonary fibrosis, which occurs without a known cause. Specific conditions that are classed as idiopathic may include:

  • Idiopathic pulmonary fibrosis
  • Non-specific interstitial pneumonia
  • Desquamative interstitial pneumonia
  • Respiratory bronchiolitis/interstitial lung disease
  • Acute interstitial pneumonia
  • Lymphoid interstitial pneumonia
  • Cryptogenic organizing pneumonia

    • Idiopathic lung disease involves damage to the lung tissue resulting from scarring or inflammation without a clearly identifiable cause. There are likely to be several factors that play a role in the pathology, such as genetic and environmental factors, but these are not always clear.

    Interstitial Lung Disease at the University of MichiganPlay

    Environmental

    In some cases, environmental or occupational factors may be responsible for the onset of interstitial lung disease, usually due to the inhalation of irritants.

    For example, extrinsic allergic alveolitis, also known as Farmer's lung, can lead to IPF as a result of the inhalation of dust in the farm environment. Similarly, black lung disease can affect coal miners that inhale coal dust in the occupational setting.

    Pneumoconiosis is a condition that is a type of interstitial lung disease resulting from exposure to chemicals, such as silicon, asbestos or iron. Specifically, inhalation of asbestos can cause asbestosis, iron can cause siderosis and silicon can cause silicosis.  When these irritants are inhaled that can cause damage to the lung tissue and symptoms of ILD.

    Individuals that smoke cigarettes are also at an elevated risk for ILD, as a result of the inhaled toxins.

    Multisystem

    There are also several systemic diseases that can result in interstitial lung disease, in addition to other effects around the body. Diseases of the connective tissues are the classic example of this type. Multisystem disease leading to IPF may include:

  • Dermatomyositis
  • Lupus erythematosus
  • Polymyositis
  • Rheumatoid arthritis
  • Sclerosis
  • Wegener's granulomatosis

    • Sarcoidosis is a notable systemic condition that involves the formation of granulomas anywhere around the body, but commonly in the lungs to cause interstitial pulmonary disease.

    Medication-Induced

    Adverse drug reactions can also induce interstitial lung disease in some patients. The may include reactions from:

  • Cytotoxic agents (e.G. Methotrexate or bleomycin)
  • Antiarrhythmic drugs (e.G. Amiodarone)
  • Antibiotics (e.G. Nitrofurantoin, sulfonamides, infliximab)
  • Statins

    • The damage to the lung tissue caused by these medications is highly variable, depending on the length and dose of the treatment.

    Infection

    Severe infections of the lungs can cause permanent damage to the respiratory system, leading to ILD. These infections may include:

  • Pneumonia
  • Tuberculosis
  • Chlamydia trachomatis
  • Respiratory syncytial virus
    • Familial

    Familial pulmonary fibrosis, also known as familial interstitial pneumonia, accounts for a small percentage of patients that have idiopathic pulmonary fibrosis. This occurs when a particular gene mutation is associated with increased susceptibility to scarring and damage to the lungs.

    Malignancy

    Malignancy has been associated with ILD, due to the pathology of the condition and the treatments to manage it.

    Lymphangitic carcinomatosis involves malignant growth in the lung tissue that can lead to the scarring and ILD. Chemotherapy and radiation therapy can both cause damage to the lungs and cause symptoms of ILD.

    References Further Reading

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