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Disease Profile

Beryllium disease

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.

Unknown

Age of onset

Adult

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ICD-10

J63.2

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)

Subacute Berylliosis; Reversible Berylliosis; Acute Berylliosis;

Categories

Lung Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
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Orpha Number: 133

Definition
A pneumoconiosis, characterized by granulomatous inflammation, that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.

Epidemiology
The number of workers exposed to beryllium has been estimated at 1 million in the US, although no accurate figure exists for the US or globally. The prevalence of BeS in those exposed ranges from 1 20%. Chronic beryllium disease (CBD) among those with BeS ranges from 15-100%.

Clinical description
Patients with CBD can range from those who are asymptomatic to those with severe lung dysfunction. Manifestations occur a few months to many years after exposure to beryllium and include chronic dry cough, dyspnea on exertion, chest pain, fatigue, fever, night sweats and weight loss. Additional extrapulmonary manifestations of dermatitis and skin granulomas have been reported. Progressive pulmonary fibrosis can eventually lead to cor pulmonale and respiratory failure. An increased risk of lung cancer among workers exposed to high levels of beryllium has also been observed.

Etiology
CBD is caused by occupational or environmental exposure to beryllium and beryllium-containing alloys (usually by inhalation of dust or fumes but also via contact with skin). Over time, in a subset of individuals, a cell-mediated immune response to beryllium may occur, causing the development of sensitized T cells that accumulate within the lungs and eventually form granulomas which can lead to fibrosis. A genetic variant in the HLA-DPB1 gene (6p21.3) with the presence of a glutamic acid at amino acid position 69 has been associated with the development of BeS and CBD.

Diagnostic methods
Diagnosis is based on a history of exposure to beryllium, characteristic clinical findings and laboratory testing. BeS can be detected with the beryllium lymphocyte proliferation test (BeLPT). Chest x-ray, CT scan of the lungs, exercise tolerance testing and pulmonary function tests can also aid in the diagnosis. Sampling of the lung with for example bronchoscopy with biopsy and bronchoalveolar lavage is usually required to demonstrate granulomatous inflammation in the lungs and or sensitization to beryllium

Differential diagnosis
The main differential diagnoses are sarcoidosis (most common), hypersensitivity pneumonitis and tuberculosis as well as other occupational lung diseases (such as silicosis).

Management and treatment
There is no cure for CBD. Treatment involves recommendations for cessation of beryllium exposure as medically prudent, and the use of immunosuppressive therapies, such as corticosteroids (prednisone). Early symptomatic disease may be treated with inhaled corticosteroids along with a short acting bronchodilator. Methotrexate and other immunosuppressive therapies can reduce steroid side effects. The efficacy of corticosteroids may be limited and relapses can occur after cessation of therapy or when dose is lowered. Those with advanced disease and major breathing difficulties may require oxygen supplementation. In severe cases, a lung transplant may be suggested. Patients should refrain from smoking. CBD may be prevented by providing exposed workers with respiratory protective devices and protective clothing and by minimizing exposure through use of workplace administration and engineering controls. The BeLPT is used to identify patients early on and to define workplace areas for modification in order to ultimately reduce additional BeS and CBD cases.

Prognosis
Prognosis varies, with some patients remaining clinically stable for many years and some experiencing a gradual worsening of symptoms over time. A debilitating course resulting in respiratory failure is also possible but regular monitoring and treatment can slow down the disease process.

Visit the Orphanet disease page for more resources.

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.

In-Depth Information

  • 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.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.