Berylliosis

Note: Chronic beryllium disease (berylliosis) can closely mimic sarcoidosis both clinically and histologically. Always ask about occupational exposure (aerospace, nuclear, electronics). ⚠️

🔎 About

• Beryllium is a rare lightweight metal with exceptional strength‑to‑weight ratio, heat resistance, and a melting point ≈ 1500 °C.
• Commonly used in the aerospace industry ✈️, nuclear reactors ☢️, fluorescent lamps 💡, precision instruments ⚙️, and ceramic/electronic components.
• Inhalation of beryllium dust, fumes, or compounds triggers a cell‑mediated hypersensitivity reaction (Type IV) leading to granulomatous lung disease.
• Latency period may be months to decades following exposure.

🧬 Aetiology & Pathogenesis

• Occurs only in genetically susceptible individuals — associated with the HLA‑DPB1 (Glu69) allele.
• Beryllium binds macrophage proteins → forms an antigen complex → activates CD4⁺ T‑cells → cytokine release → granuloma formation.
• ⚠️ Family members can be affected via contaminated clothing (“para‑occupational” exposure).
• Chronic immune activation may lead to progressive interstitial fibrosis.

🩺 Clinical Features

• Acute berylliosis: Rare; chemical pneumonitis after high‑level exposure → cough, dyspnoea, fever, diffuse crackles, pulmonary oedema‑like CXR.
• Chronic berylliosis: Gradual onset of dry cough, exertional breathlessness, fatigue, weight loss, arthralgia, ± chest pain.
• Extra‑pulmonary features: skin papules or ulcers at contact sites, conjunctivitis, hepatosplenomegaly, lymphadenopathy.
• Signs resemble chronic sarcoidosis → often misdiagnosed unless exposure history sought.

📋 Investigations

• CXR / HRCT:
  • Acute — diffuse alveolar or pulmonary oedema pattern.
  • Chronic — reticulonodular or micronodular opacities, perihilar predominance, possible fibrosis.
• PFTs: Restrictive pattern with ↓ TLC, ↓ DLCO; may show mixed defect late in disease.
• Histology: Well‑formed non‑caseating epithelioid granulomas, identical to sarcoidosis.
• Beryllium Lymphocyte Proliferation Test (BeLPT): Gold standard — performed on peripheral blood or bronchoalveolar lavage (BAL) lymphocytes.
• BAL: Lymphocytosis (> 20%) and positive BeLPT confirm sensitisation.
• Serum ACE: Can be elevated (similar to sarcoid, hence not diagnostic).

🧪 Diagnostic Criteria (Chronic Beryllium Disease)

• 1️⃣ Documented beryllium exposure.
• 2️⃣ Positive BeLPT (blood or BAL).
• 3️⃣ Compatible histopathology with non‑caseating granulomas.

⚖️ Differentiating Berylliosis vs Sarcoidosis

💊 Management

• General principles: Removal from exposure site is essential for all patients.
• Acute disease: Corticosteroids (e.g. prednisolone 40 mg/day) often cause rapid improvement.
• Chronic disease:
  • Long‑term corticosteroids to suppress granulomatous inflammation.
  • Steroid‑sparing agents (methotrexate, azathioprine) in refractory cases.
  • Immunomodulatory biologics (e.g. anti‑TNF) under research for steroid‑resistant forms.
• Supportive: Oxygen therapy, pulmonary rehabilitation, vaccinations (Influenza, Pneumococcus), and regular follow‑up with HRCT + PFT.
• Patient counselling on protective equipment and workplace safety standards (OSHA guidelines).

⚠️ Complications

• Hypercalcaemia from extrarenal 1‑α‑hydroxylase activity.
• Progressive pulmonary fibrosis → chronic hypoxia and cor pulmonale (right‑heart failure).
• Secondary infection (Pseudomonas, Nocardia) in advanced disease from steroid use.
• Pneumothorax / honeycomb lung in end‑stage fibrosis.

📉 Prognosis

• Highly variable — depends on early recognition, antigen avoidance, and steroid responsiveness.
• Early diagnosis + exposure cessation → favourable long‑term outlook.
• Untreated chronic disease may progress to respiratory failure and pulmonary hypertension.
• No definitive cure; management aims at symptom control and preserving lung function.

🏭 Preventive & Occupational Measures

• Industrial air monitoring + engineering controls (high‑efficiency filtration and local exhaust).
• Personal protective equipment (PPE): respirators, gloves, protective clothing.
• Routine BeLPT screening programs for at‑risk workers.
• Employer reporting and worker education mandated by OSHA and NIOSH standards.

3 Clinical Cases — Berylliosis (Chronic Beryllium Disease) ⚙️🫁

• Case 1 — Aerospace worker 🛩️: 45‑year‑old man from aircraft manufacturing presents with progressive exertional dyspnoea and dry cough. CXR: bilateral hilar adenopathy + interstitial infiltrates. Teaching: Exposure history + positive BeLPT confirm CBD. Removal from workplace essential.
• Case 2 — Electronics factory employee 💻: 38‑year‑old woman develops chronic cough and chest tightness while working with beryllium ceramics. HRCT: upper‑lobe nodularity. Teaching: Occupational exposure important even in small‑scale industries. Steroid therapy for symptomatic cases.
• Case 3 — Advanced fibrotic disease ❤️🫁: 57‑year‑old retired metalworker with worsening breathlessness and ankle oedema. Echo: pulmonary hypertension and RV failure. Teaching: Highlights end‑stage CBD progression to cor pulmonale. Requires long‑term O₂ and supportive management.