Mayer Annyce S, Mroz Margaret M, Van Dyke Michael K, Pacheco Karin A, Gottschall E Brigitte, Crooks James L, Maier Lisa A
Division of Environmental and Occupational Health Sciences, Department of Medicine, National Jewish Health, Denver, Colorado, USA.
Department of Environmental and Occupational Health, Colorado School of Public Health, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Am J Ind Med. 2025 Jan;68(1):68-75. doi: 10.1002/ajim.23676. Epub 2024 Nov 25.
Despite the utility of the beryllium lymphocyte proliferation test (BeLPT), distinguishing sarcoidosis, a disease of unknown etiology, from chronic beryllium disease (CBD), has long posed a diagnostic challenge. It is unclear if beryllium-exposed sarcoidosis cases (Be-exp-Sarc) are clinically distinct from CBD, or are misdiagnosed cases of CBD.
We performed a case-case study of 40 beryllium-exposed individuals diagnosed with Be-exp-Sarc compared to 40 frequency-matched CBD cases. We compared demographics, exposure, clinical, physical, and radiographic characteristics and HLA DBPI E69 genotype.
Compared to CBD, Be-exp-Sarc cases were diagnosed at a younger age, had lower lung function, were less likely to have normal radiographic imaging, were more likely to have massive adenopathy and extra-thoracic manifestations and were more likely to have been prescribed systemic immunosuppressive therapy. Be-exp-Sarc tended to have fewer years of beryllium exposure, but there were no significant differences in the amount of beryllium exposure. HLA DPBI E69 was present in 53% of Be-exp-Sarc cases, not different from the general population, versus 92% of CBD cases (p < 0.001).
While a number of differences were observed, the only absolute distinguishing features were lack of confirmed beryllium sensitization in Be-exp-Sarc and lack of extra-thoracic manifestations in CBD. These findings suggest that Be-exp-Sarc may be distinct from CBD, and beryllium or some other workplace exposure may possibly play an as yet to be defined etiologic role, although the possibility that these cases could be due to selection bias from heightened surveillance in beryllium workforces cannot be excluded.
尽管铍淋巴细胞增殖试验（BeLPT）具有实用性，但长期以来，将病因不明的结节病与慢性铍病（CBD）区分开来一直是一项诊断挑战。尚不清楚接触铍的结节病病例（Be-exp-Sarc）在临床上是否与CBD不同，或者是否为CBD的误诊病例。
我们对40例被诊断为Be-exp-Sarc的铍接触个体与40例频率匹配的CBD病例进行了病例对照研究。我们比较了人口统计学、接触情况、临床、体格和影像学特征以及HLA DBPI E69基因型。
与CBD相比，Be-exp-Sarc病例诊断时年龄较小，肺功能较低，影像学检查正常的可能性较小，更有可能出现大量淋巴结肿大和胸外表现，并且更有可能接受全身性免疫抑制治疗。Be-exp-Sarc的铍接触年限往往较少，但铍接触量没有显著差异。53%的Be-exp-Sarc病例存在HLA DPBI E69，与普通人群无异，而CBD病例中这一比例为92%（p<0.001）。
虽然观察到了一些差异，但唯一绝对的区分特征是Be-exp-Sarc中缺乏经证实的铍致敏，以及CBD中缺乏胸外表现。这些发现表明，Be-exp-Sarc可能与CBD不同，铍或其他一些工作场所接触可能在病因方面发挥尚未明确的作用，尽管不能排除这些病例可能是由于对铍接触人群加强监测导致的选择偏倚。
