Chronic beryllium disease

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Overview

Chronic beryllium disease (CBD), also known as berylliosis, is an occupational and environmental granulomatous lung disease caused by inhalation of beryllium dust, fumes, or particles. It is classified as a form of pneumoconiosis and primarily affects the lungs, though it can also involve the skin, lymph nodes, liver, and other organs. CBD develops in genetically susceptible individuals who have been exposed to beryllium, typically in occupational settings such as aerospace manufacturing, nuclear weapons production, electronics, ceramics, and dental alloy processing. The disease is characterized by a cell-mediated immune response (delayed-type hypersensitivity) to beryllium, leading to the formation of noncaseating granulomas in affected tissues, most prominently in the lungs. Key symptoms include progressive dyspnea (shortness of breath), chronic dry cough, fatigue, weight loss, chest pain, and night sweats. As the disease progresses, patients may develop restrictive or obstructive lung function impairment, reduced gas exchange capacity, and pulmonary fibrosis. The clinical and histological presentation closely resembles sarcoidosis, making differentiation challenging without a documented history of beryllium exposure and confirmatory immunologic testing. A preclinical stage known as beryllium sensitization can be detected by the beryllium lymphocyte proliferation test (BeLPT), which identifies an immune response to beryllium before clinical disease manifests. Genetic susceptibility plays a significant role in CBD development. The HLA-DPB1 gene variant encoding a glutamic acid at position 69 (Glu69) is strongly associated with increased risk of beryllium sensitization and disease. Treatment primarily involves corticosteroids (such as prednisone) to suppress the granulomatous inflammation and slow disease progression. Immunosuppressive agents such as methotrexate or azathioprine may be used as steroid-sparing therapies. Avoidance of further beryllium exposure is essential. In advanced cases with end-stage pulmonary fibrosis, lung transplantation may be considered. There is no cure for CBD, and management focuses on symptom control and slowing disease progression.

Also known as:

Clinical phenotype terms— hover any for plain English:

Abnormal respiratory system physiologyHP:0002795Hypersensitivity pneumonitisHP:0006516Immunologic hypersensitivityHP:0100326Abnormal tracheobronchial morphologyHP:0005607Lymphocytic interstitial pneumoniaHP:0006527Ground-glass opacificationHP:0025179Reticulonodular pattern on pulmonary HRCTHP:0025393PharyngitisHP:0025439Reduced FEV1/FVC ratioHP:0030877Abnormality on pulmonary function testingHP:0030878Abnormal CD4+ T cell subset proportionHP:0031392Mediastinal lymphadenopathyHP:0100721Abnormal skin morphologyHP:0011121
Inheritance

Multifactorial

Caused by a mix of several genes and environmental factors

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗NORD ↗

FDA & Trial Timeline

1 event
Sep 2020The Development of Quantitative Ultrasound Imaging Software Platform

Seoul National University Bundang Hospital — NA

TrialENROLLING BY INVITATION

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

1 available

HUMIRA

adalimumab· AbbVie, Inc.■ Boxed Warning

Treatment of adult patients with moderate to severe chronic plaque psoriasis who are candidates for systemic therapy or phototherapy, and when other systemic therapies are medically less appropriate

No actively recruiting trials found for Chronic beryllium disease at this time.

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

Search ClinicalTrials.gov ↗Join the Chronic beryllium disease community →

Specialists

23 foundView all specialists →
LM
Lisa A Maier
Specialist
3 Chronic beryllium disease publications
BF
Björn C Frye
Specialist
2 Chronic beryllium disease publications
DS
Daiana Stolz
Specialist
2 Chronic beryllium disease publications
DS
Daniel Soriano
BRONX, NY
Specialist
2 Chronic beryllium disease publications
PA
Prerana Agarwal
Specialist
2 Chronic beryllium disease publications
CT
Charlott Terschluse
Specialist
2 Chronic beryllium disease publications
LJ
Louis Jouanjan
Specialist
2 Chronic beryllium disease publications
IY
Ivana V Yang
Specialist
2 Chronic beryllium disease publications
ZL
Zhe Lei
ARLINGTON, VA
Specialist
2 Chronic beryllium disease publications
JM
Joachim Müller-Quernheim
Specialist
3 Chronic beryllium disease publications
GZ
Gernot Zissel
Specialist
3 Chronic beryllium disease publications
LM
Li Li, MD
Specialist
PI on 2 active trials1 Chronic beryllium disease publication
LM
Lisa Maier, MD
Specialist
PI on 1 active trial1 Chronic beryllium disease publication
BP
Brian Day, PhD
Specialist
PI on 1 active trial
LM
Lisa A. Maier, M.D., MSPH
Specialist
PI on 1 active trial
LM
Lisa A. Maier, MD, MSPH
Specialist
PI on 1 active trial
MM
Margaret M Mroz
Specialist
2 Chronic beryllium disease publications
TF
Tasha E Fingerlin
Specialist
2 Chronic beryllium disease publications
SL
Sucai Liu
Specialist
2 Chronic beryllium disease publications
KM
Kristyn MacPhail
Specialist
2 Chronic beryllium disease publications
JF
Johanna Feary
Specialist
2 Chronic beryllium disease publications
CQ
Caroline Quartucci
Specialist
2 Chronic beryllium disease publications
BF
Björn Christian Frye
Specialist
2 Chronic beryllium disease publications

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 Chronic beryllium disease.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Chronic beryllium disease

Disease timeline:

New trial: The Development of Quantitative Ultrasound Imaging Software Platform

Phase NA trial recruiting.

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.

Common questions about Chronic beryllium disease

What is Chronic beryllium disease?

Chronic beryllium disease (CBD), also known as berylliosis, is an occupational and environmental granulomatous lung disease caused by inhalation of beryllium dust, fumes, or particles. It is classified as a form of pneumoconiosis and primarily affects the lungs, though it can also involve the skin, lymph nodes, liver, and other organs. CBD develops in genetically susceptible individuals who have been exposed to beryllium, typically in occupational settings such as aerospace manufacturing, nuclear weapons production, electronics, ceramics, and dental alloy processing. The disease is characteriz

How is Chronic beryllium disease inherited?

Chronic beryllium disease follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Chronic beryllium disease typically begin?

Typical onset of Chronic beryllium disease is adult. Age of onset can vary across affected individuals.

Which specialists treat Chronic beryllium disease?

23 specialists and care centers treating Chronic beryllium disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.