(StatePoint) Rare lung diseases affect people nationwide, yet many patients go undiagnosed or misdiagnosed for years. One rare lung disease that illustrates the challenges of timely diagnosis is autoimmune pulmonary alveolar proteinosis (aPAP). Like many rare lung diseases, aPAP has no cure, but treatment can help manage symptoms and improve quality of life.
To encourage early diagnosis of rare lung diseases like aPAP, the American Lung Association, with support from Savara, Inc., is sharing these five key points:
1. Symptoms are often common, but the pattern is not. Rare lung diseases like aPAP often have symptoms similar to more common lung conditions, like persistent cough, fatigue, and shortness of breath, especially with exertion. “Part of aPAP is that its symptoms mimic many lung diseases, which means patients get misdiagnosed as having asthma or recurrent pneumonias and the correct diagnosis is often delayed,” says Ali Ataya, MD a pulmonologist specializing in rare lung disease. “However, the distinguishing factor for rare lung diseases is a pattern over time of persistent, worsening symptoms or symptoms that don’t respond to standard treatments.”
2. Don’t wait on persistent or worsening symptoms. If symptoms are not improving with your current treatment, seeing a pulmonologist or healthcare provider specializing in rare lung diseases is key to getting the correct diagnosis. “A doctor familiar with rare lung diseases will know to look for a specific pattern of symptoms, especially when those symptoms aren’t improving with standard treatments like inhalers or antibiotics,” says Dr. Ataya.
3. Diagnosis often requires specialized testing. Unlike common lung conditions, rare lung diseases often cannot be confirmed with a single test. Diagnosis may involve: a detailed medical history and family medical history, a physical examination and specialized testing. A rare disease specialist will have a better understanding of what specialized tests to order to help diagnose your disease.
Dr. Ataya says in the case of aPAP, “Ordering a chest CT scan can reveal telltale signs, such as hazy areas in the lungs known as a ‘crazy paving’ pattern, while a simple blood test can help confirm the diagnosis.”
4. Treatment can help, especially when started early. Many rare lung diseases don’t yet have cures; however, treatment may be available to help manage symptoms, slow disease progression and improve quality of life. With rare lung diseases, it is vital to have a tailored treatment plan. A specialist can help get you on the path to targeted medical therapies, specialized procedures, pulmonary rehabilitation and ongoing monitoring to ensure your treatment plan continues to meet your needs.
As a patient living with aPAP, Niki P. advocates for getting treated by a specialist as soon as possible when living with a rare disease, “You need to know about your disease and what the treatments are.”
5. Support, education and specialized care make a difference. Living with a rare lung disease can be physically and emotionally challenging. Access to education, support networks and a coordinated care team that specializes in your rare disease is an essential part of long-term management. “You can thrive if you can get the right information from the experts. Don’t procrastinate. Learn as much as you possibly can. There’s so much available,” says Niki.
Early diagnosis starts with awareness. Learn more about rare lung diseases, like aPAP, and find trusted resources and support by calling the Lung HelpLine at 1-800-LUNGUSA.
“If you or someone you know is struggling with unexplained lung symptoms. Don’t settle for uncertainty,” says Dr. Ataya.
