Respiratory bronchiolitis-interstitial lung disease syndrome

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:79127J68.4
Who is this for?
Show terms as
3Specialists8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
Report missing data

Overview

Respiratory bronchiolitis-interstitial lung disease syndrome (RB-ILD) is a rare lung condition that almost always occurs in people who smoke cigarettes, though it can occasionally affect former smokers. It is sometimes called 'smokers' lung disease' or 'respiratory bronchiolitis-associated interstitial lung disease.' In this condition, pigmented immune cells called macrophages build up inside the small airways of the lungs, causing inflammation and scarring of the delicate lung tissue. This makes it harder for the lungs to move oxygen into the bloodstream. The most common symptoms are a persistent cough and gradually worsening shortness of breath, especially during physical activity. Some people also notice crackle-like sounds when a doctor listens to their lungs. Because the symptoms come on slowly, many people do not realize something is wrong until the disease has already progressed. The good news is that RB-ILD often responds well to the most important treatment: stopping smoking. Many patients see significant improvement after quitting. In more severe cases, doctors may also prescribe corticosteroids to reduce lung inflammation. With early diagnosis and smoking cessation, the outlook for most patients is much better than for other types of interstitial lung disease.

Also known as:

Key symptoms:

Persistent dry or mild coughShortness of breath, especially during exercise or physical activityCrackling sounds in the lungs heard through a stethoscopeReduced ability to exercise or do physical tasksFatigue and low energyMild decrease in lung function on breathing testsOccasional mild chest discomfortClubbing of the fingers (thickening and rounding of fingertips) in some cases

Clinical phenotype terms (22)— hover any for plain English
EmphysemaHP:0002097Diffuse reticular or finely nodular infiltrationsHP:0002207Chronic pulmonary obstructionHP:0006510Ground-glass opacificationHP:0025179Reduced FEV1/FVC ratioHP:0030877Inspiratory cracklesHP:0031996Chronic bronchitisHP:0004469Hypersensitivity pneumonitisHP:0006516Respiratory tract infectionHP:0011947Nonproductive coughHP:0031246Decreased DLCOHP:0045051ClubbingHP:0001217
Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Respiratory bronchiolitis-interstitial lung disease syndrome.

View clinical trials →

No actively recruiting trials found for Respiratory bronchiolitis-interstitial lung disease syndrome at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Respiratory bronchiolitis-interstitial lung disease syndrome community →

Specialists

3 foundView all specialists →
LM
Lindsey McKernan, PhD, MPH
NASHVILLE, TN
Specialist
PI on 1 active trial
DP
David J Klumpp, PhD
GREENFIELD, WI
Specialist
PI on 1 active trial
LM
Lindsey McKernan, PhD MPH
NASHVILLE, TN
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Respiratory bronchiolitis-interstitial lung disease syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Respiratory bronchiolitis-interstitial lung disease syndromeForum →

No community posts yet. Be the first to share your experience with Respiratory bronchiolitis-interstitial lung disease syndrome.

Start the conversation →

Latest news about Respiratory bronchiolitis-interstitial lung disease syndrome

No recent news articles for Respiratory bronchiolitis-interstitial lung disease syndrome.

Follow this condition to be notified when news becomes available.

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.How certain are you that I have RB-ILD, and do I need a lung biopsy to confirm the diagnosis?,How much improvement can I realistically expect if I stop smoking?,Do I need to take corticosteroids, and what are the risks and benefits for my specific situation?,How often should I have follow-up visits and repeat breathing tests to monitor my lung function?,Are there pulmonary rehabilitation programs you can refer me to?,What symptoms should prompt me to seek emergency care?,Are there any clinical trials for RB-ILD that I might be eligible for?

Common questions about Respiratory bronchiolitis-interstitial lung disease syndrome

What is Respiratory bronchiolitis-interstitial lung disease syndrome?

Respiratory bronchiolitis-interstitial lung disease syndrome (RB-ILD) is a rare lung condition that almost always occurs in people who smoke cigarettes, though it can occasionally affect former smokers. It is sometimes called 'smokers' lung disease' or 'respiratory bronchiolitis-associated interstitial lung disease.' In this condition, pigmented immune cells called macrophages build up inside the small airways of the lungs, causing inflammation and scarring of the delicate lung tissue. This makes it harder for the lungs to move oxygen into the bloodstream. The most common symptoms are a persi

How is Respiratory bronchiolitis-interstitial lung disease syndrome inherited?

Respiratory bronchiolitis-interstitial lung disease syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Respiratory bronchiolitis-interstitial lung disease syndrome typically begin?

Typical onset of Respiratory bronchiolitis-interstitial lung disease syndrome is adult. Age of onset can vary across affected individuals.

Which specialists treat Respiratory bronchiolitis-interstitial lung disease syndrome?

3 specialists and care centers treating Respiratory bronchiolitis-interstitial lung disease syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.