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Rare Lung Diseases

According to Cincinnati Children's Medical Hospital, there are approximately 6,000 rare diseases and 25 million individuals in the United States who are affected by the rare diseases. Rare lung diseases, defined as medical conditions that affect less than 200,000 individuals, are included in this group. Just because they are rare does not mean they don't impact the communities and families as well as the individuals with the afflictions.

  1. Lymphangioleiomyomatosis

    • Lymphangioleiomyomatosis, or LAM, is a lung disease that can affect women in their mid-30s to 40-years-old. With LAM, cells wildly grow in the lungs and spread to other tissues or organs, such as the kidneys or lymph nodes. Over time the disease worsens, and the LAM cells can destroy the normal cells so air in the lungs is restricted. In addition, the body can't provide the rest of the body with oxygen. The disease causes shortness or breath and pain. One lung can repeatedly collapse. There is no cure for LAM, but a lung transplant can improve the quality of life for many women.

    Pulmonary Alveolar Proteinosis

    • Pulmonary alveolar proteinosis, or PAP, is another rare lung disease. Unlike LAM, this disease can affect children, men and women. With PAP, grainy material, which consists of fat and protein, accumulates in the air sacs of the lungs. This makes breathing more difficult. PAP can be mild or severe and happen in addition to other diseases. PAP can occur with at any age. This disease can occur for no reason.

    Hereditary Interstitial

    • Hereditary Interstitial Lung Diseases, or HILD, develops in childhood. This disease is actually a diverse group of conditions involving the perialveolar and alveoli tissues. HILD interferes with the gas exchange in the lungs. So the air sacs in the lungs become stiff, inflamed and thick. In addition to making it hard to breathe, there is permanent scarring. The cause of the disease is not known. If HILD is left untreated, it can lead to respiratory or heart failure.

    Alpha-1 Antitrypsin Deficiency

    • Alpha-1 antitrypsin deficiency is an inherited disease that can affect the lungs in adults. In children, it can affect the liver and lungs. The AAT is a protein which protects the lungs, but delivered to the bloodstream via the liver. With Alpha-1 antitrypsin deficiency, there is not enough of the protein to protect the lungs. In adults, younger than 40-years-old, emphysema can develop. This disease can be treated, but not cured.

    Considerations

    • A blood test can detect AAT deficiency. For individuals with this disease, it is paramount to stay away from cigarette smoke. It will increase the risk for emphysema. Early warning signs of HILD is shortness of breathe during exercise and chest pain. Women with LAM can develop tumors in their kidneys.

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