What are the signs and symptoms of sarcoidosis?

Signs and Symptoms of Sarcoidosis

Sarcoidosis presents with a spectrum of manifestations ranging from asymptomatic disease to progressive and potentially fatal conditions, with clinical features varying widely based on organ involvement. 1

Highly Probable Clinical Features

• Löfgren's syndrome: Bilateral hilar adenopathy with erythema nodosum and/or periarticular arthritis 1

• Skin manifestations:

  • Lupus pernio (violaceous lesions on nose, cheeks, ears) 1
  • Erythema nodosum 1
  • Maculopapular, erythematous, or violaceous skin lesions 1
  • Subcutaneous nodules 1

• Ocular manifestations:

  • Uveitis 1
  • Optic neuritis 1
  • Scleritis 1
  • Retinitis 1
  • Lacrimal gland swelling 1

• Neurological manifestations:

  • Seventh cranial nerve paralysis 1
  • Gadolinium enhancement on CNS MRI 1

• Metabolic abnormalities:

  • Hypercalcemia or hypercalciuria with abnormal vitamin D metabolism 1

Pulmonary Manifestations

Pulmonary involvement occurs in approximately 90% of sarcoidosis patients 2, with key features including:

• Respiratory symptoms:

  • Dyspnea (shortness of breath)
  • Dry cough
  • Chest pain 3

• Radiographic findings:

  • Bilateral hilar adenopathy 1
  • Perilymphatic nodules on chest CT 1
  • Upper lobe or diffuse infiltrates 1
  • Peribronchial thickening 1

Cardiac Manifestations

• Treatment-responsive cardiomyopathy or atrioventricular node block 1
• Spontaneous/inducible ventricular tachycardia without risk factors 1
• Reduced left ventricular ejection fraction without risk factors 1
• New-onset third-degree AV block in young or middle-aged adults 1
• Increased inflammatory activity in heart on imaging (MRI, PET, gallium) 1

Other Organ System Involvement

• Lymphatic system:

  • Two or more enlarged extrathoracic lymph nodes 1
  • Symmetrical parotid enlargement 1, 4

• Hepatic/Splenic:

  • Hepatomegaly/splenomegaly 1
  • Imaging showing enlargement or nodules in liver or spleen 1
  • Elevated alkaline phosphatase (>3× upper limit of normal) 1

• Renal:

  • Treatment-responsive renal failure 1
  • Nephrolithiasis with calcium stones 1

• Musculoskeletal:

  • Osteolysis, cysts/punched-out lesions, trabecular pattern in bone 1
  • Inflammatory lesions in bone on imaging 1

• ENT manifestations:

  • Granulomatous lesions on direct laryngoscopy 1

Systemic Symptoms

• Fatigue (often pronounced) 5, 6
• Fever 3
• Unintentional weight loss 3
• Small fiber neuropathy 5

Laboratory Findings

• Elevated ACE level (>50% of upper limit of normal) 1
• BAL lymphocytosis or elevated CD4:CD8 ratio 1

Important Clinical Considerations

• Disease progression may lead to pulmonary fibrosis, respiratory failure, pulmonary hypertension, or cardiac complications including sudden cardiac death 1

• Cardiac involvement occurs in 25% of patients but causes clinical problems in only 5%; however, it can be suddenly fatal, necessitating screening in all patients 5

• Ocular involvement may be asymptomatic but can cause permanent vision impairment if untreated, requiring screening in all patients 5

• Diagnostic challenges: The diagnosis is based on three criteria: compatible clinical presentation, nonnecrotizing granulomatous inflammation on biopsy, and exclusion of alternative causes 1

• Highly specific syndromes that may not require histological confirmation include:

  • Löfgren's syndrome
  • Lupus pernio
  • Heerfordt's syndrome (uveoparotid fever with facial nerve palsy) 1, 2

The clinical presentation of sarcoidosis is notoriously variable, with manifestations ranging from asymptomatic to life-threatening, making it a diagnostic challenge that requires careful evaluation of multiple organ systems.