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.
Clinical phenotype terms— hover any for plain English:
Multifactorial
Caused by a mix of several genes and environmental factors
Adult
Begins in adulthood (age 18 or older)
FDA & Trial Timeline
1 eventSeoul National University Bundang Hospital — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableHUMIRA
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
Clinical Trials
View all trials with filters →No actively recruiting trials found for Chronic beryllium disease at this time.
New trials open frequently. Follow this disease to get notified.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Chronic beryllium disease.
Community
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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
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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.