Rare Neurology News

Disease Profile

Idiopathic pulmonary fibrosis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

Adult

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ICD-10

J84.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Fibrosing alveolitis, cryptogenic; Familial idiopathic pulmonary fibrosis; Fibrocystic pulmonary dysplasia;

Categories

Lung Diseases

Summary

Idiopathic pulmonary fibrosis (IPF) is a condition in which tissues in the lungs become thick and stiff, or scarred, over time. The lungs then lose their ability to move oxygen to the brain and other parts of the body. Common symptoms include shortness of breath and a dry, hacking cough. In some cases fibrosis happens quickly, while in others, the process is much slower. Sometimes the disease stays the same for years. The condition is 'idiopathic' because the cause is unknown. When multiple family members are affected, it is called familial IPF. Many people with this condition live for about 3-5 years after the diagnosis. The most common cause of death is respiratory failure.[1]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Bronchiectasis
Permanent enlargement of the airways of the lungs
0002110
Clubbing of fingers
Clubbing (hands)
Clubbed fingers
Finger clubbing

[ more ]

0100759
Cough
Coughing
0012735
Crackles
0030830
Exertional dyspnea
0002875
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn

[ more ]

0002020
Ground-glass opacification on pulmonary HRCT
0025179
Honeycomb lung
0025175
Pulmonary fibrosis
0002206
Reticular pattern on pulmonary HRCT
0025390
5%-29% of people have these symptoms
Pulmonary insufficiency
0010444
Percent of people who have these symptoms is not available through HPO
Alveolar cell carcinoma
0006519
Autosomal dominant inheritance
0000006
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Decreased DLCO
0045051
Dyspnea
Trouble breathing
0002094
Elevated bronchoalveolar lavage fluid neutrophil proportion
0032977
Increased circulating antibody level
0010702
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Usual interstitial pneumonia
0031950

Treatment

In the past, the goals of treating idiopathic pulmonary fibrosis (IPF) have been to prevent more lung scarring, relieve symptoms, maintain the ability to be active, and improve the quality of life.[2] More recently, pirfenidone (an anti-fibrotic drug) has been approved to treat people with mild-to-moderate IPF in the European Union, Canada, and Asia.[3] The U.S. Food and Drug Administration (FDA) has granted Breakthrough Therapy Designation for pirfenidone and nintedanib, due to trials suggesting they slow the progression of IPF.[4] Several other drugs are being studied as potential treatments including cotrimoxazole, thalidomide, sildenafil, andimatinib mesylate. However, more research is needed to determine their safety and effectiveness.[3]

Most affected people need oxygen therapy at some point to increase oxygen levels in the bloodstream. Oxygen therapy can reduce breathlessness and allow people to be more active. Some people benefit from pulmonary rehabilitation, used for people with chronic lung diseases.

People with IPF may eventually need a lung transplant. This is more likely in younger patients (under 65) with severe disease who have not responded to other treatments, and who don't have other serious medical problems. Some consider lung transplants for people over 65 who don't have other serious medical problems.

For many years, corticosteroids (such as prednisolone) along with immunosuppressive drugs (such as azathioprine) were used to treat IPF. Sometimes an additional drug called N-acetylcysteine has also been used. These drugs were recommended based on the theory that generalized inflammation was a major part of IPF. However, the drugs were often ineffective and there has not been evidence that they improve long-term survival.

Gastroesophageal reflux may be treated with standard medications. Some studies have shown longer survival times and lower fibrosis scores in people receiving treatment for gastroesophageal reflux.[3]

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Social Networking Websites

    • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

      Organizations Providing General Support

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

        • The Mayo Clinic provides information about Idiopathic pulmonary fibrosis. Click on the above link to access this information.
        • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
        • Genetics Home Reference (GHR) contains information on Idiopathic pulmonary fibrosis. This website is maintained by the National Library of Medicine.
        • The National Heart, Lung, and Blood Institute (NHLBI) has information on this topic. NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases.
        • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

          In-Depth Information

          • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Idiopathic pulmonary fibrosis. Click on the link to view a sample search on this topic.

            References

            1. What Is Idiopathic Pulmonary Fibrosis?. NHLBI. September 20, 2011; https://www.nhlbi.nih.gov/health/health-topics/topics/ipf/. Accessed 7/30/2014.
            2. Idiopathic Pulmonary Fibrosis. National Heart, Lung, and Blood Institute (NHLBI). 2007; https://www.nhlbi.nih.gov/health/dci/Diseases/ipf/ipf_whatis.html. Accessed 12/9/2008.
            3. Idiopathic pulmonary fibrosis. NORD. May 7, 2014; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/432/viewAbstract. Accessed 7/30/2014.
            4. NINTEDANIB AND PIRFENIDONE GRANTED BREAKTHROUGH THERAPY DESIGNATION. Pulmonary Fibrosis Foundation. July 17, 2014; https://www.pulmonaryfibrosis.org/our-role/news-media/viewannouncement/nintedanib-and-pirfenidone-granted-breakthrough-therapy-designation. Accessed 7/30/2014.
            5. Talmadge E King, Jr. Treatment of idiopathic pulmonary fibrosis. UpToDate. Waltham, MA: UpToDate; July, 2014; Accessed 7/31/2014.
            6. Eric B Meltzer and Paul W Noble. Idiopathic pulmonary fibrosis. Orphanet Journal of Rare Diseases. 2008; 3:8:https://www.ojrd.com/content/3/1/8. Accessed 7/30/2014.

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