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Idiopathic Pulmonary Fibrosis

What is Idiopathic Pulmonary Fibrosis?

Idiopathic pulmonary fibrosis (IPF) is a rare disease characterized as a chronic lung disorder, in which the tissues in the lungs gradually thicken or harden over time. IPF is actually the most common form of a larger group of lung diseases without a known underlying cause, called interstitial lung diseases (ILDs). Broken down, “idiopathic” refers to a disease with an unknown underlying cause, “pulmonary” is anything relating to the lungs, and “fibrosis” is the thickening of tissues causing damage. This gradual but steady lung damage reduces the lungs’ ability to replace oxygen in the blood and deliver it to the body. The cause of this tissue scarring in the lungs is still unknown. 

Over a long period of time, idiopathic pulmonary fibrosis causes a deterioration of the lungs and difficulty breathing and development of other more serious and potentially life threatening lung disorders: lung cancer, blood clots in the lungs, pneumonia, high blood pressure in the vessels providing blood to the lungs. While uncommon, it is possible that individuals with IPF only have mild scarring in their lungs and can live relatively healthy and unaffected by this rare disease. Also uncommon, some individuals develop symptoms of IPF much more quickly and their lungs become damaged more severely (acute symptoms, developing suddenly instead of chronically over a long period of time).

 

 

Synonyms

  • Cryptogenic Fibrosing Alveolitis
  • Idiopathic diffuse interstitial pulmonary fibrosis
  • Idiopathic fibrosing alveolitis, chronic form
  • Usual interstitial pneumonia

Idiopathic pulmonary fibrosis (IPF) is a rare disease characterized as a chronic lung disorder, in which the tissues in the lungs gradually thicken or harden over time. IPF is actually the most common form of a larger group of lung diseases without a known underlying cause, called interstitial lung diseases (ILDs). Broken down, “idiopathic” refers to a disease with an unknown underlying cause, “pulmonary” is anything relating to the lungs, and “fibrosis” is the thickening of tissues causing damage. This gradual but steady lung damage reduces the lungs’ ability to replace oxygen in the blood and deliver it to the body. The cause of this tissue scarring in the lungs is still unknown. 

Over a long period of time, idiopathic pulmonary fibrosis causes a deterioration of the lungs and difficulty breathing and development of other more serious and potentially life threatening lung disorders: lung cancer, blood clots in the lungs, pneumonia, high blood pressure in the vessels providing blood to the lungs. While uncommon, it is possible that individuals with IPF only have mild scarring in their lungs and can live relatively healthy and unaffected by this rare disease. Also uncommon, some individuals develop symptoms of IPF much more quickly and their lungs become damaged more severely (acute symptoms, developing suddenly instead of chronically over a long period of time).

 

Acknowledgement of Idiopathic Pulmonary Fibrosis has not been added yet.

The estimated frequency of idiopathic pulmonary fibrosis diagnosis is 13-20 individuals in every 100,000, with about 100,000 total people diagnosed with this rare disease in the U.S. The more common form of IPF diagnosed is sporadic, meaning that no other members of the family have this rare disease. There are some cases where multiple family members are diagnosed, following an autosomal dominant pattern of inheritance but with an unknown genetic cause. 

 

Name Abbreviation
Cryptogenic Fibrosing Alveolitis CFA
Idiopathic diffuse interstitial pulmonary fibrosis
Idiopathic fibrosing alveolitis, chronic form
Usual interstitial pneumonia

The underlying cause of IPF is unknown, which is why the condition is 'idiopathic’. Scientists believe that it is a combination of genetic and environmental factors (http://rarediseases.org/rare-diseases/idiopathic-pulmonary-fibrosis/). The damage that causes the severe symptoms takes place in the delicate epithelial cells that line the alveoli of the lungs. These are the millions of tiny, thin-walled air sacs found in the lungs, where exchange of oxygen and carbon dioxide occur between the respiratory and circulatory systems (http://rarediseases.org/rare-diseases/idiopathic-pulmonary-fibrosis/). A likely explanation is that the body attempts to repair damaged epithelial cells as a part of normal wound healing. However this process occurs abnormally, leading to progressive scarring and damage to the alveoli and surrounding lung tissue. The root cause of the disease is not known, but it is understood that genetic changes will increase a person's risk of developing IPF. Then, exposure to certain environmental factors acts as a “trigger” to cause the symptoms (http://ghr.nlm.nih.gov/condition/idiopathic-pulmonary-fibrosis). TERC and TERT are two mutated genes which have been found in about 15 percent of all IPF cases. Pulmonary fibrosis can also occur as a small part of another genetic disorder such as Hermansky-Pudlack syndrome. This disease is characterized by albinism, vision abnormalities and platelet dysfunction leading to prolonged bleeding (http://rarediseases.org/rare-diseases/idiopathic-pulmonary-fibrosis/).

The early stages of IPF can present no symptoms at all (asymptomatic). The initial, characteristic symptom is shortness of breath during exertion such as exercise (http://rarediseases.org/rare-diseases/idiopathic-pulmonary-fibrosis/). Patients may also develop a dry, hacking cough that produces little to no sputum (phlegm, saliva etc.) (http://ghr.nlm.nih.gov/condition/idiopathic-pulmonary-fibrosis). Some additional symptoms include a loss of appetite leading to weight loss, and clubbing of the fingers and toes due to a lack of oxygen supply. If the disease continues to progress, severe symptoms such as respiratory failure, collapsed lungs (pneumothorax), and heart disease can occur (http://rarediseases.org/rare-diseases/idiopathic-pulmonary-fibrosis/). Patients suffering from IPF are also at a higher risk of developing lung cancer.

The diagnosis of IPF can be done initially through identification of characteristic symptoms. These include blue extremeties such as the hands and feet due to lack of oxygen in the blood, clubbing or swelling of the fingers and toes, and a high-pitched crackling sound when examining the lungs. This diagnosis will also depend on risk factors such as smoking and family history of this rare disease to rule out other potential disease causes of these symptoms. 

 

Diagnosis of idiopathic pulmonary fibrosis can be confirmed by specialized tests including traditional chest x-rays (radiography), computer tomography (CT) scans, pulmonary function tests, blood tests, and the surgical removal and microscopic examination of lung tissue (lung biopsy). The X-ray is the most common way of examining lung tissue for any damage. However, a special type of CT scanning known as high resolution computed tomography (HRCT) is often used for diagnosis because it produces detailed cross-sectional images of lung tissue structures. A doctor can also conduct pulmonary function tests, which measure how well the lungs exchange oxygen and how efficiently oxygen is transferred to and from the blood. Finally, if a conclusive diagnosis cannot be made through the previously mentioned tests, a lung biopsy can be implemented. In this procedure, samples of lung tissue from several places within the lungs for inspection.

 

The main goal of IPF treatment is to prevent more lung scarring, relieve symptoms, maintain the ability to be active, and improve the quality of life for the patient (https://rarediseases.info.nih.gov/gard/8609/idiopathic-pulmonary-fibrosis/resources/8). Recently in 2014, the Food and Drug Administration (FDA) approved two drugs for the treatment of the disease. The first, Ofev (nintedanib), is a kinase inhibitor that blocks multiple pathways that may be the cause of the scarring of lung tissue (http://rarediseases.org/rare-diseases/idiopathic-pulmonary-fibrosis/). Esbriet (pirfenidone), another drug, also operates in a similar manner. Many IPF patients will undergo oxygen therapy at some point to increase oxygen levels in the bloodstream. In this treatment, supplemental oxygen is provided to the patient to compensate for the damaged lungs, and will reduce breathlessness and allow individuals to participate in physical activity (https://rarediseases.info.nih.gov/gard/8609/idiopathic-pulmonary-fibrosis/resources/8). If the patient does not respond well to other available treatments, a lung transplant may be required, provided that the patient is does not have any other medical conditions.

Unfortunately, the prognosis for most IPF patients is quite poor, since only 20-30% of affected people survive at least 5 years after diagnosis. Although the disease is variable in different patients, there are three main courses that could occur. IPF can be a slow progressive disease (the most common), a disease marked by episodes of acute exacerbations, or a rapidly progressive disease. The main factors that inhibit long-term survival include older age at diagnosis, extensive cigarette smoking, lower body mass index (BMI), more severe physiologic impairment, and the possible development of other complications (eg, pulmonary hypertension, emphysema, and bronchogenic cancer) (https://rarediseases.info.nih.gov/gard/8609/idiopathic-pulmonary-fibrosis/resources/15).

Tips or Suggestions of Idiopathic Pulmonary Fibrosis has not been added yet.
Upcoming podcast Created by icrispe
Last updated 10 Apr 2019, 02:21 AM

Posted by icrispe
10 Apr 2019, 02:21 AM

Hi everyone, I'm a volunteer with RareShare and Rare Genomics, and I'm hosting a podcast in a couple of weeks where I'll be interviewing a Pulmonary Fibrosis expert (Dr David Lederer), along with a patient. If anyone has any specific questions they would like me to ask the expert or the patient, please post them here by April 15.

Thanks so much,
Imogen

Urge your congressperson to support PFREA HR 1027 Created by IPFdaughter
Last updated 23 Feb 2009, 12:24 AM

Posted by IPFdaughter
23 Feb 2009, 12:24 AM

The Pulmonary Fibrosis Research Enhancement Act (PFREA) has been re-introduced in Congress! This landmark bill, reintroduced on February 13th, establishes a national patient registry, calls for a national oversight program and efforts to increase public awareness of PF! Please note: the bill number has changed from the previous Congress. The NEW bill number is H.R. 1079. Tell your friends and family to call, email or write their congressman. Visit the Coalition for Pulminary Fibrosis website for an easy webform that will send an email for you (for free of course). http://www.coalitionforpf.org/cpf_join.php

Community News Articles
Default article

3 Perspectives on Facing a Rare Disease: A Patient, a Caregiver, and an Expert Discuss Diagnosis and Treatment of Pulmonary Fibrosis

Publication date: 8 Jun 2019

Community: Idiopathic Pulmonary Fibrosis

Podcast

Hear about rare disease diagnosis, treatment, and quality of life from the perspective of Pulmonary Fibrosis patient Jim Carns, his wife and caregiver Karen Carns, and Dr David Lederer, an expert from the Pulmonary Fibrosis Foundation who is also an Associate Professor at Columbia University. Jim tells us his diagnosis and treatment story, Karen explains what life is like as a caregiver or “care partner,” while Dr Lederer explains the causes of the disease, the treatment options, and upcoming Pulmonary Fibrosis research.


Community External News Link
Title Date Link
Boehringer Ingelheim Gambles $2.62 Billion on Two Fibrotic Disease Deals 07/23/2019
Community Resources
Title Description Date Link
Pulmonary Fibrosis Foundation

The Pulmonary Fibrosis Foundation is the primary organization dedicated to finding a cure for and raising awareness of Pulmonary Fibrosis.

03/20/2017

Clinical Trials


Cords registry

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

Community Leaders

CurePF

I am a professional working with the Coalition for Pulmonary Fibrosis. I can assist people with questions about the disease and efforts to find treatments and a cure.

 

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Community User List

I am a volunteer podcast organizer for RareShare.
I was diagnosed with Pulmonary Fibrosis August 5, 2010. I was a foster care case manager, but I am no longer able to work. I am married and have 2 adult children.
I was diagnosed with mild pulmonary fibrosis. The doctor isn't taking any action, he decided to wait and do another CT scan in 3 months. Seems to me that now is the time to attack it before it gets...
I am a professional working with the Coalition for Pulmonary Fibrosis. I can assist people with questions about the disease and efforts to find treatments and a cure.
I work with the Coalition for Pulmonary Fibrosis
My mother was diagnosed with IPF in September 2008.
Diagnosed about nine months ago with idiopathic pulmonary fibrosis confirmed with a lung biopsy in May 2008.
My name is David Isserman and I am one of the co-founders of RareShare. If you have any questions or feedback regarding RareShare, please feel free to contact me directly at david@rareshare.org.

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Upcoming podcast

Created by icrispe | Last updated 10 Apr 2019, 02:21 AM

Urge your congressperson to support PFREA HR 1027

Created by IPFdaughter | Last updated 23 Feb 2009, 12:24 AM


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