Pulmonary fibrosis (PF) is a rare and often fatal lung disease and the road to diagnosis can be long and difficult. Nobody is sure how many people are affected by PF. Research has estimated that one in 200 adults over the age of 70 in the United States will have idiopathic pulmonary fibrosis (IPF), which is only one of more than 200 types. That’s the equivalent of more than 200,000 people living with IPF today. About 50,000 new cases are diagnosed annually, and up to 40,000 Americans die from IPF each year.
There are many factors that make this disease difficult for both patients and providers. Not only is there a longer time to diagnosis (and sometimes a misdiagnosis), but patients also experience debilitating symptoms. Unlike diabetes, heart disease, or cancer, which are high levels of awareness and medical terminology is readily available, PF is a condition that most people didn’t hear about until they were diagnosed. According to a recent poll by the Pulmonary Fibrosis Foundation (PFF), nearly nine in ten Americans are unfamiliar with the symptoms of PF. Finding expertise, where it is available, is critical to the early diagnosis and treatment of this patient population.
The more than 200 different lung diseases that qualify as PF all look very similar. In the simplest sense, pulmonary fibrosis literally means scarring in the lungs: the word “lungs” means lungs and the word “fibrosis” means scar tissue. If you have a process that over time causes scarring or inflammation of the lungs, the scar tissue can destroy normal lungs, making it difficult for oxygen to easily get into the bloodstream. The lungs become stiff, making it difficult for patients to take deep breaths.
Some known causes of PF are aging (over 60 years old), cigarette smoking (both current and past smokers), and genetics. We also know that as part of the systemic disease process, patients can develop PF in addition to an autoimmune disease such as rheumatoid arthritis or scleroderma. There are also environmental causes such as exposure to mold or animal proteins (especially from indoor or caged birds) that lead to a disease called hypersensitivity pneumonitis (HP). Other causes include certain drugs, such as chemotherapy and amiodarone, all of which can lead to drug toxicity and PF. On the other hand, there are many who suffer from these diseases whose cases cannot be traced back to a specific cause – the definition of “idiopathic”. However, all of these diseases have one common characteristic: inflammation and scarring of the lungs.
The symptoms of PF make this disease difficult to diagnose as they are not specific. Symptoms can range from asymptomatic to chronic dry cough, shortness of breath, and / or fatigue. Because symptoms are similar to other illnesses, such as the common cold, or may appear mild or absent early on, many patients are not diagnosed until the disease progresses to a later stage. Accurate and early diagnosis is therefore of vital importance.
There are some tests that we can use to determine if a patient has PF. Doctors look for low oxygen levels, “crackling” in the lungs (which sounds like the Velcro is being pulled apart), or for clubs on your fingers. In addition, high-resolution computed tomography (HRCT) tests have changed the way we diagnose patients with PF. HRCT scans provide a close-up view of the lungs and are more detailed than routine CT scans. Many forms of PF look similar to the untrained eye on a CT scan, but subtle findings on HRCT scans are critical in trying to determine what type of PF a patient might have. Through a lot of research, we are able to diagnose the type of PF by combining the medical history and the appearance of an HRCT scan in up to 50 percent of the cases. A doctor may also do a lung biopsy to determine the type of PF and what treatments might be effective.
WHY PF IS A PROBLEM
Once diagnosed, PF has a significant impact on the quality of life of patients who may become breathless when participating in everyday activities such as showering, getting dressed, talking on the phone, or even eating. Patients need to think ahead, analyze every single activity they plan, and rethink social participation as a chronic cough may prevent them from participating in conversations. Many also become dependent on a caregiver along with a wider support network. All of these things can be very challenging for someone living with PF.
In short, PF is a serious, life-limiting disease. While the average survival rate for certain forms of PF is only three to five years, earlier diagnosis and better treatments now available enable many people to live much longer. Fortunately, we have a number of options for treating PF, including oxygen therapy, pulmonary rehabilitation, drug use, and even lung transplants. In 2014, the FDA approved two drugs for IPF: nintedanib and pirfenidone. It was a great achievement for our community, but it is only the beginning of what we need to do for our patients.
This year is promising with advances in research and clinical trials. The research community is aggressively exploring new therapeutics for all forms of PF. For example, PRECISIONS, an NIH-sponsored study, examines genetic risk factors and responses to therapy and applies the principles of precision medicine to the treatment of IPF patients.
More than ever, there are many opportunities for patients to participate in clinical trials, and the PFF is playing a key role in supporting those trials. We also have the PFF registry which allows patients to participate in very positive ways to speed up the research effort. Through patient participation and working with various funding agencies and investigators, we will continue to make progress for patients with PF.
I hope that by disseminating useful information and providing helpful resources, the visibility of PF will continue to increase, leading to improved early detection and quality of life. We look forward to patients who live longer and better with this disease.