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5 Rare Lung Diseases You Probably Haven't Heard Of

Home Blog 5 Rare Lung Diseases You Probably Haven't Heard Of
5 Rare Lung Diseases You Probably Haven't Heard Of

What makes a rare disease rare? According to the National Institute of Health (NIH), a rare disease is defined as one that affects fewer than 200,000 people. Most of these diseases are genetic. There are many challenges for those diagnosed with a rare disease. First, they can be very difficult to diagnose. Additionally, because few people have the disease there isn't a lot of money or resources being put towards researching causes or treatments. There also isn't a large community (if any) for patients to turn to.

That's why, in honor of Rare Disease Day, we are raising some awareness towards a few rare lung diseases. 

Here are 5 rare lung diseases you probably haven't heard of:


1.  Pulmonary Langerhans Cell Histiocytosis (PLCH)

  • This is a rare disease characterized by multiple lung cysts. Lung cysts are air-filled pockets inside the lung tissue. This disease is most commonly seen in young to middle-aged people. Cysts can progress over time leading to a gradual decline in lung function. According to the Rare Disease Network, 90% of patients with PLCH smoked cigarettes or had a lot of exposure to second-hand smoke. Around 40,000-50,000 patients have this disease worldwide. 


2.  Lymphangioleiomyomatosis (LAM)

  • This is a rare progressive lung disease that more known to affect women. This disease is characterized by an abnormal growth of smooth muscle cells. These cells invade all lung structures and limit flow through the airway, blood, and lymph vessels. The cells also damage the lung tissue, which causes cysts to form. According to the Rare Disease Network, only 30,000-50,000 people worldwide have this disease. 


3.  Birt-Hogg-Dube Syndrome (BHD)

  • This is a hereditary disease associated with multiple noncancerous (benign) skin tumors, lung cysts, and an increased risk of both benign kidney tumors and kidney cancer. Symptoms from this disease don't generally appear until adulthood. It's unknown how many people have this disease. 


4.  Pulmonary Alveolar Microlithiasis (PAM)

  • PAM is a rare, inherited lung disease. In this disease, tiny fragments of calcium phosphate collect in the small airs sacs of the lungs. This causes damage to your lungs. As in BHD, patients generally won't see symptoms until they reach their 30s or 40s. There have been more than 1000 cases reported worldwide. 


5.  Hermansky-Pudlak Syndrome (HPS)

  • This disease is characterized by the light coloring of the skin, hair, and eyes, and bleeding problems due to abnormal platelet function. Some HPS patients develop scarring on their lungs (pulmonary fibrosis). This disease is caused by genetic mutations in the genes related to cell function. HPS is most prevalent in Puerto Rico. There are only 10,000-20,000 HPS cases worldwide. 


Having a rare disease can be very isolating because fewer people are aware that it exists. That's why we should always be looking for ways to help those suffering from a rare disease, so they can feel supported and get the treatment and whatever resources they need to fight their illness. 


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